| Year |
Citation |
Score |
| 2024 |
Vandebergh M, Ramos EM, Corriveau-Lecavalier N, Ramanan VK, Kornak J, Mester C, Kolander T, Brushaber D, Staffaroni AM, Geschwind D, Wolf A, Kantarci K, Gendron TF, Petrucelli L, Van den Broeck M, ... ... Rademakers R, et al. Gene specific effects on brain volume and cognition of in frontotemporal lobar degeneration. Medrxiv : the Preprint Server For Health Sciences. PMID 38633784 DOI: 10.1101/2024.04.05.24305253 |
0.302 |
|
| 2024 |
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, ... ... Rademakers R, et al. MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study. The Lancet. Neurology. 23: 487-499. PMID 38631765 DOI: 10.1016/S1474-4422(24)00083-8 |
0.414 |
|
| 2023 |
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, ... ... Rademakers R, et al. Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. Medrxiv : the Preprint Server For Health Sciences. PMID 38234807 DOI: 10.1101/2023.12.28.23300612 |
0.314 |
|
| 2023 |
Badihian N, Ali F, Botha H, Savica R, Machulda MM, Clark HM, Stierwalt JAG, Pham NTT, Baker MC, Rademakers R, Lowe V, Whitwell JL, Josephs KA. The MAPT P.G324L and P.A406G mutations are associated with progressive supranuclear palsy with atypical features. Parkinsonism & Related Disorders. 119: 105962. PMID 38134678 DOI: 10.1016/j.parkreldis.2023.105962 |
0.391 |
|
| 2023 |
Grossman M, Seeley WW, Boxer AL, Hillis AE, Knopman DS, Ljubenov PA, Miller B, Piguet O, Rademakers R, Whitwell JL, Zetterberg H, van Swieten JC. Frontotemporal lobar degeneration. Nature Reviews. Disease Primers. 9: 40. PMID 37563165 DOI: 10.1038/s41572-023-00447-0 |
0.368 |
|
| 2023 |
Matchett BJ, Lincoln SJ, Baker M, Tamvaka N, Labuzan SA, Hicks Sirmans TN, Moloney CM, Helminger J, Hinkle KM, Cabrera-Rodriguez J, Wickland DP, Johnson PW, Heckman MG, Reddy JS, Younkin SG, ... ... Rademakers R, et al. The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study. Medicine. 102: e34017. PMID 37327267 DOI: 10.1097/MD.0000000000034017 |
0.335 |
|
| 2023 |
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, ... ... Rademakers R, et al. Creating the Pick's disease International Consortium: Association study of H2 haplotype with risk of Pick's disease. Medrxiv : the Preprint Server For Health Sciences. PMID 37163045 DOI: 10.1101/2023.04.17.23288471 |
0.434 |
|
| 2023 |
T Vicente C, Perneel J, Wynants S, Heeman B, Van den Broeck M, Baker M, Cheung S, Faura J, Mackenzie IRA, Rademakers R. C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes. Brain : a Journal of Neurology. PMID 37100087 DOI: 10.1093/brain/awad133 |
0.304 |
|
| 2023 |
Perneel J, Manoochehri M, Huey ED, Rademakers R, Goldman J. Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family. Frontiers in Neurology. 14: 1160248. PMID 37077569 DOI: 10.3389/fneur.2023.1160248 |
0.383 |
|
| 2022 |
Lee H, Mackenzie IRA, Beg MF, Popuri K, Rademakers R, Wittenberg D, Hsiung GR. White-matter abnormalities in presymptomatic and mutation carriers. Brain Communications. 5: fcac333. PMID 36632182 DOI: 10.1093/braincomms/fcac333 |
0.323 |
|
| 2022 |
Perneel J, Neumann M, Heeman B, Cheung S, Van den Broeck M, Wynants S, Baker M, Vicente CT, Faura J, Rademakers R, Mackenzie IRA. Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging. Acta Neuropathologica. PMID 36527486 DOI: 10.1007/s00401-022-02531-3 |
0.33 |
|
| 2022 |
Reho P, Koga S, Shah Z, Chia R, Rademakers R, Dalgard CL, Boeve BF, Beach TG, Dickson DW, Ross OA, Scholz SW. GRN Mutations Are Associated with Lewy Body Dementia. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 35810449 DOI: 10.1002/mds.29144 |
0.406 |
|
| 2022 |
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, ... ... Rademakers R, et al. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. PMID 35102318 DOI: 10.1038/s41588-022-01020-3 |
0.386 |
|
| 2021 |
Pottier C, Mateiu L, Baker MC, DeJesus-Hernandez M, Teixeira Vicente C, Finch NA, Tian S, van Blitterswijk M, Murray ME, Ren Y, Petrucelli L, Oskarsson B, Biernacka JM, Graff-Radford NR, Boeve BF, ... ... Rademakers R, et al. Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations. Brain : a Journal of Neurology. PMID 34918030 DOI: 10.1093/brain/awab437 |
0.345 |
|
| 2021 |
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, ... ... Rademakers R, et al. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. 53: 1636-1648. PMID 34873335 DOI: 10.1038/s41588-021-00973-1 |
0.43 |
|
| 2021 |
Barbier M, Camuzat A, Hachimi KE, Guegan J, Rinaldi D, Lattante S, Houot M, Sánchez-Valle R, Sabatelli M, Antonell A, Molina-Porcel L, Clot F, Couratier P, van der Ende E, van der Zee J, ... ... Rademakers R, et al. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. Brain : a Journal of Neurology. 144: 2798-2811. PMID 34687211 DOI: 10.1093/brain/awab171 |
0.306 |
|
| 2021 |
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, ... ... Rademakers R, et al. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. Jama Neurology. PMID 34459874 DOI: 10.1001/jamaneurol.2021.2598 |
0.372 |
|
| 2021 |
Zhou X, Kukar T, Rademakers R. Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology. Advances in Experimental Medicine and Biology. 1281: 219-242. PMID 33433878 DOI: 10.1007/978-3-030-51140-1_14 |
0.366 |
|
| 2020 |
Chu SA, Flagan TM, Staffaroni AM, Jiskoot LC, Deng J, Spina S, Zhang L, Sturm VE, Yokoyama JS, Seeley WW, Papma JM, Geschwind DH, Rosen HJ, Boeve BF, Boxer AL, ... ... Rademakers R, et al. Brain volumetric deficits in MAPT mutation carriers: a multisite study. Annals of Clinical and Translational Neurology. PMID 33247623 DOI: 10.1002/acn3.51249 |
0.337 |
|
| 2020 |
Ghirelli A, Tosakulwong N, Weigand SD, Clark HM, Ali F, Botha H, Duffy JR, Utianski RL, Buciuc M, Murray ME, Labuzan SA, Spychalla AJ, Pham NTT, Schwarz CG, Senjem ML, ... ... Rademakers R, et al. Sensitivity-specificity of tau and Aβ PET in frontotemporal lobar degeneration. Annals of Neurology. PMID 32869362 DOI: 10.1002/Ana.25893 |
0.322 |
|
| 2020 |
Mol MO, van Rooij JGJ, Wong TH, Melhem S, Verkerk AJMH, Kievit AJA, van Minkelen R, Rademakers R, Pottier C, Kaat LD, Seelaar H, van Swieten JC, Dopper EGP. Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients. Neurobiology of Aging. PMID 32843152 DOI: 10.1016/j.neurobiolaging.2020.07.014 |
0.3 |
|
| 2020 |
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus J, Shi J, Heckman M, Spiegel M, Cook C, Song Y, Yue M, Daughrity L, Carlomagno Y, Jansen-West K, ... ... Rademakers R, et al. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. The Journal of Clinical Investigation. PMID 32790644 DOI: 10.1172/Jci139741 |
0.439 |
|
| 2020 |
Zhou X, Brooks M, Jiang P, Koga S, Zuberi AR, Baker MC, Parsons TM, Castanedes-Casey M, Phillips V, Librero AL, Kurti A, Fryer JD, Bu G, Lutz C, Dickson DW, ... Rademakers R, et al. Loss of Tmem106b exacerbates FTLD pathologies and causes motor deficits in progranulin-deficient mice. Embo Reports. e50197. PMID 32761777 DOI: 10.15252/Embr.202050197 |
0.362 |
|
| 2020 |
Gentry MT, Lapid MI, Syrjanen J, Calvert K, Hughes S, Brushaber D, Kremers W, Bove J, Brannelly P, Coppola G, Dheel C, Dickerson B, Dickinson S, Faber K, Fields J, ... ... Rademakers R, et al. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 32656921 DOI: 10.1002/Alz.12095 |
0.327 |
|
| 2020 |
Wernick AI, Walton RL, Koga S, Soto-Beasley AI, Heckman MG, Gan-Or Z, Ren Y, Rademakers R, Uitti RJ, Wszolek ZK, Cheshire WP, Dickson DW, Ross OA. GBA variation and susceptibility to multiple system atrophy. Parkinsonism & Related Disorders. 77: 64-69. PMID 32623306 DOI: 10.1016/J.Parkreldis.2020.06.007 |
0.387 |
|
| 2020 |
Townley RA, Polsinelli AJ, Fields JA, Machulda MM, Jones DT, Graff-Radford J, Kantarci KM, Lowe VJ, Rademakers RV, Baker MC, Kumar N, Boeve BF. Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in : the next generation. Neurocase. 1-9. PMID 32602775 DOI: 10.1080/13554794.2020.1787458 |
0.308 |
|
| 2020 |
Zhou X, Nicholson AM, Ren Y, Brooks M, Jiang P, Zuberi A, Phuoc HN, Perkerson RB, Matchett B, Parsons TM, Finch NA, Lin W, Qiao W, Castanedes-Casey M, Phillips V, ... ... Rademakers R, et al. Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies. Brain : a Journal of Neurology. PMID 32504082 DOI: 10.1093/Brain/Awaa141 |
0.373 |
|
| 2020 |
Kempthorne L, Yoon H, Madore C, Smith S, Wszolek ZK, Rademakers R, Kim J, Butovsky O, Dickson DW. Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy. Acta Neuropathologica Communications. 8: 72. PMID 32430064 DOI: 10.1186/S40478-020-00947-0 |
0.323 |
|
| 2020 |
Jackson JL, Finch NA, Baker MC, Kachergus JM, DeJesus-Hernandez M, Pereira K, Christopher E, Prudencio M, Heckman MG, Thompson EA, Dickson DW, Shah J, Oskarsson B, Petrucelli L, Rademakers R, et al. Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers. Molecular Neurodegeneration. 15: 7. PMID 32000838 DOI: 10.1186/S13024-020-0359-8 |
0.394 |
|
| 2020 |
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, ... ... Rademakers R, et al. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathologica. PMID 31955222 DOI: 10.1007/s00401-019-02107-8 |
0.303 |
|
| 2020 |
Staffaroni AM, Bajorek L, Casaletto KB, Cobigo Y, Goh SM, Wolf A, Heuer HW, Elahi FM, Ljubenkov PA, Dever R, Kornak J, Appleby B, Bove J, Bordelon Y, Brannelly P, ... ... Rademakers R, et al. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 16: 11-21. PMID 31914230 DOI: 10.1016/J.Jalz.2019.01.012 |
0.345 |
|
| 2020 |
Heuer HW, Wang P, Rascovsky K, Wolf A, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber DE, Caso C, Coppola G, Dickerson B, Dickinson S, Domoto-Reilly K, Faber K, ... ... Rademakers R, et al. Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 16: 60-70. PMID 31914226 DOI: 10.1002/Alz.12046 |
0.419 |
|
| 2020 |
Ramos EM, Dokuru DR, Van Berlo V, Wojta K, Wang Q, Huang AY, Deverasetty S, Qin Y, van Blitterswijk M, Jackson J, Appleby B, Bordelon Y, Brannelly P, Brushaber DE, Dickerson B, ... ... Rademakers R, et al. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 16: 118-130. PMID 31914217 DOI: 10.1002/Alz.12011 |
0.357 |
|
| 2019 |
Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford N, Jack CR, Jones D, ... ... Rademakers R, et al. Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study. Neurobiology of Aging. PMID 31918955 DOI: 10.1016/J.Neurobiolaging.2019.12.004 |
0.429 |
|
| 2019 |
Moore KM, Nicholas J, Grossman M, McMillan CT, Irwin DJ, Massimo L, Van Deerlin VM, Warren JD, Fox NC, Rossor MN, Mead S, Bocchetta M, Boeve BF, Knopman DS, Graff-Radford NR, ... ... Rademakers R, et al. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. The Lancet. Neurology. PMID 31810826 DOI: 10.1016/S1474-4422(19)30394-1 |
0.435 |
|
| 2019 |
Olney NT, Ong E, Goh SM, Bajorek L, Dever R, Staffaroni AM, Cobigo Y, Bock M, Chiang K, Ljubenkov P, Kornak J, Heuer HW, Wang P, Rascovsky K, Wolf A, ... ... Rademakers R, et al. Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 31784375 DOI: 10.1016/J.Jalz.2019.08.196 |
0.397 |
|
| 2019 |
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, ... ... Rademakers R, et al. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience. PMID 31768050 DOI: 10.1038/S41593-019-0530-0 |
0.359 |
|
| 2019 |
Boeve B, Bove J, Brannelly P, Brushaber D, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova R, ... ... Rademakers R, et al. The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 31636026 DOI: 10.1016/J.Jalz.2019.06.4947 |
0.313 |
|
| 2019 |
Dickson DW, Baker MC, Jackson JL, DeJesus-Hernandez M, Finch NA, Tian S, Heckman MG, Pottier C, Gendron TF, Murray ME, Ren Y, Reddy JS, Graff-Radford NR, Boeve BF, Petersen RC, ... ... Rademakers R, et al. Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers. Acta Neuropathologica Communications. 7: 150. PMID 31594549 DOI: 10.1186/S40478-019-0797-0 |
0.388 |
|
| 2019 |
Chen Q, Boeve BF, Schwarz CG, Reid R, Tosakulwong N, Lesnick TG, Bove J, Brannelly P, Brushaber D, Coppola G, Dheel C, Dickerson BC, Dickinson S, Faber K, Fields J, ... ... Rademakers R, et al. Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers. Neurobiology of Aging. 83: 54-62. PMID 31585367 DOI: 10.1016/J.Neurobiolaging.2019.08.011 |
0.443 |
|
| 2019 |
Sakae N, Roemer SF, Bieniek KF, Murray ME, Baker MC, Kasanuki K, Graff-Radford NR, Petrucelli L, Van Blitterswijk M, Rademakers R, Dickson DW. Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations. Annals of Clinical and Translational Neurology. PMID 31448566 DOI: 10.1002/Acn3.50875 |
0.45 |
|
| 2019 |
Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford NR, Jack CR, Jones DT, ... ... Rademakers R, et al. Rates of lobar atrophy in asymptomatic mutation carriers. Alzheimer's & Dementia (New York, N. Y.). 5: 338-346. PMID 31388560 DOI: 10.1016/J.Trci.2019.05.010 |
0.429 |
|
| 2019 |
Mao Q, Zheng X, Gefen T, Rogalski E, Spencer CL, Rademakers R, Fought AJ, Kohler M, Weintraub S, Xia H, Mesulam MM, Bigio EH. FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology. Journal of Neuropathology and Experimental Neurology. PMID 31361008 DOI: 10.1093/Jnen/Nlz059 |
0.406 |
|
| 2019 |
Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, ... ... Rademakers R, et al. Frontal lobe H MR spectroscopy in asymptomatic and symptomatic mutation carriers. Neurology. PMID 31315971 DOI: 10.1212/Wnl.0000000000007961 |
0.381 |
|
| 2019 |
Josephs KA, Zhang YJ, Baker M, Rademakers R, Petrucelli L, Dickson DW. C-terminal and full length TDP-43 specie differ according to FTLD-TDP lesion type but not genetic mutation. Acta Neuropathologica Communications. 7: 100. PMID 31266542 DOI: 10.1186/S40478-019-0755-X |
0.382 |
|
| 2019 |
Hirsch-Reinshagen V, Alfaify OA, Hsiung GR, Pottier C, Baker M, Perkerson RB, Rademakers R, Briemberg H, Foti DJ, Mackenzie IR. Clinicopathologic correlations in a family with a mutation presenting as primary progressive aphasia and primary lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-8. PMID 31244341 DOI: 10.1080/21678421.2019.1632347 |
0.492 |
|
| 2019 |
Koga S, Eric Ahlskog J, DeTure MA, Baker M, Roemer SF, Konno T, Rademakers R, Ross OA, Dickson DW. Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1. Journal of Neuropathology and Experimental Neurology. PMID 31216016 DOI: 10.1093/Jnen/Nlz048 |
0.383 |
|
| 2019 |
Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, ... ... Rademakers R, et al. Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. PMID 31173437 DOI: 10.1111/Jon.12642 |
0.408 |
|
| 2019 |
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, ... ... Rademakers R, et al. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathologica. PMID 31131421 DOI: 10.1007/S00401-019-02026-8 |
0.406 |
|
| 2019 |
Ebbert MTW, Jensen TD, Jansen-West K, Sens JP, Reddy JS, Ridge PG, Kauwe JSK, Belzil V, Pregent L, Carrasquillo MM, Keene D, Larson E, Crane P, Asmann YW, Ertekin-Taner N, ... ... Rademakers R, et al. Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight. Genome Biology. 20: 97. PMID 31104630 DOI: 10.1186/S13059-019-1707-2 |
0.35 |
|
| 2019 |
Nelson PT, Dickson DW, Trojanowski JQ, Jack CR, Boyle PA, Arfanakis K, Rademakers R, Alafuzoff I, Attems J, Brayne C, Coyle-Gilchrist ITS, Chui HC, Fardo DW, Flanagan ME, Halliday G, et al. Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report. Brain : a Journal of Neurology. PMID 31039256 DOI: 10.1093/Brain/Awz099 |
0.393 |
|
| 2019 |
Sharma R, Graff-Radford J, Rademakers R, Boeve BF, Petersen RC, Jones DT. CSF1R mutation presenting as dementia with Lewy bodies. Neurocase. 1-4. PMID 30968732 DOI: 10.1080/13554794.2019.1601230 |
0.362 |
|
| 2019 |
Zhang YJ, Guo L, Gonzales PK, Gendron TF, Wu Y, Jansen-West K, O'Raw AD, Pickles SR, Prudencio M, Carlomagno Y, Gachechiladze MA, Ludwig C, Tian R, Chew J, DeTure M, ... ... Rademakers R, et al. Heterochromatin anomalies and double-stranded RNA accumulation underlie poly(PR) toxicity. Science (New York, N.Y.). 363. PMID 30765536 DOI: 10.1126/Science.Aav2606 |
0.333 |
|
| 2019 |
Pottier C, Ren Y, Perkerson RB, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, ... ... Rademakers R, et al. Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta Neuropathologica. PMID 30739198 DOI: 10.1007/S00401-019-01962-9 |
0.424 |
|
| 2019 |
Carlomagno Y, Chung DC, Yue M, Kurti A, Avendano NM, Castanedes-Casey M, Hinkle KM, Jansen-West K, Daughrity LM, Tong J, Phillips V, Rademakers R, DeTure M, Fryer JD, Dickson DW, et al. Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant. Acta Neuropathologica Communications. 7: 10. PMID 30674342 DOI: 10.1186/S40478-019-0661-2 |
0.403 |
|
| 2019 |
Fernandez V, Huey D, Budde JP, Farias FHG, Harari O, Norton J, Gentsch J, Morris JC, Goate A, Rademakers R, Graff-Radford NR, Boeve BF, Kauwe J, Cruchaga C, Nia-Load. O2-10-02: Whole Exome Sequencing Analysis In Early Onset Alzheimer Reveals Novel Candidate Genes Alzheimers & Dementia. 15. DOI: 10.1016/J.Jalz.2019.06.4506 |
0.322 |
|
| 2019 |
Chen Q, Boeve BF, Senjem ML, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields JA, Forsberg LK, Gavrilova RH, Gearhart D, Graff-Radford J, Graff-Radford NR, Jack CR, Jones DT, ... ... Rademakers R, et al. O2-09-06: Trajectory Of Lobar Atrophy In Asymptomatic And Symptomatic Grn Mutation Carriers: A Longitudinal Tbm-Syn Study Alzheimers & Dementia. 15. DOI: 10.1016/J.Jalz.2019.06.4504 |
0.382 |
|
| 2019 |
Miller ZA, Ossenkoppele R, Shwe W, Allen IE, Rosenberg LM, Olguin D, Edwards K, Ketelle R, Karydas AM, Perry DC, Sturm V, Yokoyama JS, Desikan RS, Geschwind DH, Wolters EE, ... ... Rademakers R, et al. F2-01-01: Neurodevelopmental Differences And Environmental Insults Inversely Correlate With Age Of Onset In Alzheimer'S Disease Alzheimers & Dementia. 15. DOI: 10.1016/J.Jalz.2019.06.4416 |
0.31 |
|
| 2019 |
Chen Q, Boeve BF, Senjem ML, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields JA, Forsberg LK, Gavrilova RH, Gearhart D, Graff-Radford J, Graff-Radford NR, Jack CR, Jones DT, ... ... Rademakers R, et al. P3-364: Rates Of Lobar Atrophy In Asymptomatic Mapt Mutation Carriers Alzheimers & Dementia. 15. DOI: 10.1016/J.Jalz.2019.06.3397 |
0.4 |
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| 2019 |
Chen Q, Boeve BF, Schwarz CG, Reid RI, Tosakulwong N, Lesnick TG, Bove J, Brannelly P, Brushaber D, Coppola G, Dheel C, Dickerson BC, Dickinson S, Faber K, Fields JA, ... ... Rademakers R, et al. P2-329: Tracking White Matter Degeneration In Asymptomatic And Symptomatic Mapt Mutation Carriers With Dti Alzheimers & Dementia. 15. DOI: 10.1016/J.Jalz.2019.06.2736 |
0.39 |
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| 2018 |
Zhao N, Liu CC, Van Ingelgom AJ, Linares C, Kurti A, Knight JA, Heckman MG, Diehl NN, Shinohara M, Martens YA, Attrebi ON, Petrucelli L, Fryer JD, Wszolek ZK, Graff-Radford NR, ... ... Rademakers R, et al. APOE ε2 is associated with increased tau pathology in primary tauopathy. Nature Communications. 9: 4388. PMID 30348994 DOI: 10.1038/S41467-018-06783-0 |
0.392 |
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| 2018 |
Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, ... ... Rademakers R, et al. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain : a Journal of Neurology. PMID 30252044 DOI: 10.1093/Brain/Awy238 |
0.498 |
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| 2018 |
Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, et al. Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease. Molecular Neurodegeneration. 13: 46. PMID 30126445 DOI: 10.1186/S13024-018-0274-4 |
0.312 |
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| 2018 |
Hang Wong T, Pottier C, Hondius D, H H Meeter L, G J van Rooij J, Melhem S, Brain Bank TN, van Minkelen R, M van Duijn C, J M Rozemuller A, Seelaar H, Rademakers R, C van Swieten J. Three VCP Mutations in Patients with Frontotemporal Dementia. Journal of Alzheimer's Disease : Jad. PMID 30103325 DOI: 10.3233/JAD-180301 |
0.427 |
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| 2018 |
Sanchez-Contreras MY, Kouri N, Cook CN, Serie DJ, Heckman MG, Finch NA, Caselli RJ, Uitti RJ, Wszolek ZK, Graff-Radford N, Petrucelli L, Wang LS, Schellenberg GD, Dickson DW, Rademakers R, et al. Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci. Molecular Neurodegeneration. 13: 37. PMID 29986742 DOI: 10.1186/S13024-018-0267-3 |
0.369 |
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| 2018 |
Mordes DA, Prudencio M, Goodman LD, Klim JR, Moccia R, Limone F, Pietilainen O, Chowdhary K, Dickson DW, Rademakers R, Bonini NM, Petrucelli L, Eggan K. Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients. Acta Neuropathologica Communications. 6: 55. PMID 29973287 DOI: 10.1186/S40478-018-0555-8 |
0.364 |
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| 2018 |
Ren Y, van Blitterswijk M, Allen M, Carrasquillo MM, Reddy JS, Wang X, Beach TG, Dickson DW, Ertekin-Taner N, Asmann YW, Rademakers R. TMEM106B haplotypes have distinct gene expression patterns in aged brain. Molecular Neurodegeneration. 13: 35. PMID 29970152 DOI: 10.1186/S13024-018-0268-2 |
0.367 |
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| 2018 |
Zhang YJ, Gendron TF, Ebbert MTW, O'Raw AD, Yue M, Jansen-West K, Zhang X, Prudencio M, Chew J, Cook CN, Daughrity LM, Tong J, Song Y, Pickles SR, Castanedes-Casey M, ... ... Rademakers R, et al. Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. Nature Medicine. PMID 29942091 DOI: 10.1038/S41591-018-0071-1 |
0.335 |
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| 2018 |
Arrant AE, Nicholson AM, Zhou X, Rademakers R, Roberson ED. Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency. Molecular Neurodegeneration. 13: 32. PMID 29929528 DOI: 10.1186/S13024-018-0264-6 |
0.383 |
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| 2018 |
Popuri K, Dowds E, Beg MF, Balachandar R, Bhalla M, Jacova C, Buller A, Slack P, Sengdy P, Rademakers R, Wittenberg D, Feldman HH, Mackenzie IR, Hsiung GR. Gray matter changes in asymptomatic and mutation carriers. Neuroimage. Clinical. 18: 591-598. PMID 29845007 DOI: 10.1016/J.Nicl.2018.02.017 |
0.36 |
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| 2018 |
Pottier C, Zhou X, Perkerson RB, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, ... ... Rademakers R, et al. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. The Lancet. Neurology. PMID 29724592 DOI: 10.1016/S1474-4422(18)30126-1 |
0.598 |
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| 2018 |
Ren Y, Reddy JS, Pottier C, Sarangi V, Tian S, Sinnwell JP, McDonnell SK, Biernacka JM, Carrasquillo MM, Ross OA, Ertekin-Taner N, Rademakers R, Hudson M, Mainzer LS, Asmann YW. Identification of missing variants by combining multiple analytic pipelines. Bmc Bioinformatics. 19: 139. PMID 29661148 DOI: 10.1186/S12859-018-2151-0 |
0.318 |
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| 2018 |
Gefen T, Ahmadian SS, Mao Q, Kim G, Seckin M, Bonakdarpour B, Ramos EM, Coppola G, Rademakers R, Rogalski E, Rademaker A, Weintraub S, Mesulam MM, Geula C, Bigio EH. Combined Pathologies in FTLD-TDP Types A and C. Journal of Neuropathology and Experimental Neurology. PMID 29584904 DOI: 10.1093/Jnen/Nly018 |
0.311 |
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| 2018 |
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Rademakers R, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/J.Neuron.2018.02.027 |
0.479 |
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| 2018 |
Pottier C, Rampersaud E, Baker M, Wu G, Wuu J, McCauley JL, Zuchner S, Schule R, Bermudez C, Hussain S, Cooley A, Wallace M, Zhang J, Taylor JP, Benatar M, ... Rademakers R, et al. Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-3. PMID 29558868 DOI: 10.1080/21678421.2018.1452947 |
0.455 |
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| 2018 |
Konno T, Miura T, Harriott AM, Mezaki N, Edwards ES, Rademakers R, Ross OA, Meschia JF, Ikeuchi T, Wszolek ZK. Partial Loss of Function of CSF1R in a Patient with White Matter Abnormalities. European Journal of Neurology. PMID 29509319 DOI: 10.1111/Ene.13611 |
0.312 |
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| 2018 |
Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, Nilsson C, Landqvist Waldö M, Alafuzoff I, Hansson O, Gustafson L, Puschmann A. Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review. Alzheimer's Research & Therapy. 10: 2. PMID 29370822 DOI: 10.1186/S13195-017-0330-2 |
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| 2018 |
Chou CC, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F, Sayegh M, Donlin-Asp PG, Chen YH, Duong DM, Seyfried NT, Powers MA, Kukar T, Hales CM, Gearing M, ... ... Rademakers R, et al. TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD. Nature Neuroscience. PMID 29311743 DOI: 10.1038/S41593-017-0047-3 |
0.4 |
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| 2018 |
Chen Q, Boeve BF, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields JA, Forsberg LK, Gavrilova RH, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones DT, Knopman DS, ... ... Rademakers R, et al. P1-420: Accelerated Neurochemical Changes Prior To Phenoconversion To Frontotemporal Lobar Degeneration In Presymptomatic Microtubule-Associated Protein Tau (Mapt) Mutation Carriers: A Longitudinal Mrs Study Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.429 |
0.437 |
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| 2018 |
Touroutoglou A, Brickhouse M, Krivensky S, Wong B, Getchell K, Lucente D, McGinnis SM, Dickerson BC, Boeve BF, Rosen HJ, Boxer AL, Bove J, Brushaber D, Coppola G, Dheel C, ... ... Rademakers R, et al. P1-419: Using A Brain Network Approach To Predict Genetic Mutation In Individual Patients With Familial Frontotemporal Dementia Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.428 |
0.411 |
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| 2018 |
Chen Q, Boeve BF, Brushaber D, Dheel C, Fields JA, Forsberg LK, Gavrilova RH, Gearhart D, Haley D, Graff-Radford J, Jones DT, Knopman DS, Graff-Radford NR, Kraft RA, Lapid MI, ... Rademakers R, et al. P2-430: Mr Spectroscopy From Frontal Lobe And Posterior Cingulate Gyrus In Asymptomatic And Symptomatic Microtubule-Associated Protein Tau (Mapt) Mutation Carriers Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.1122 |
0.42 |
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| 2017 |
McGoldrick P, Zhang M, van Blitterswijk M, Sato C, Moreno D, Xiao S, Zhang AB, McKeever PM, Weichert A, Schneider R, Keith J, Petrucelli L, Rademakers R, Zinman L, Robertson J, et al. Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression. Neurology. PMID 29282338 DOI: 10.1212/Wnl.0000000000004865 |
0.319 |
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| 2017 |
Botha H, Finch NA, Gavrilova RH, Machulda MM, Fields JA, Lowe VJ, Petersen RC, Jack CR, Dheel CM, Gearhart DJ, Knopman DS, Rademakers R, Boeve BF. Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome. Neurology. Genetics. 3: e201. PMID 29264393 DOI: 10.1212/Nxg.0000000000000201 |
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| 2017 |
Hirsch-Reinshagen V, Pottier C, Nicholson AM, Baker M, Hsiung GR, Krieger C, Sengdy P, Boylan KB, Dickson DW, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, ... ... Rademakers R, et al. Clinical and neuropathological features of ALS/FTD with TIA1 mutations. Acta Neuropathologica Communications. 5: 96. PMID 29216908 DOI: 10.1017/Cjn.2018.48 |
0.377 |
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| 2017 |
Mao Q, Wang D, Li Y, Kohler M, Wilson J, Parton Z, Shmaltsuyeva B, Gursel D, Rademakers R, Weintraub S, Mesulam MM, Xia H, Bigio EH. Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration. Journal of Neuropathology and Experimental Neurology. 76: 957-968. PMID 29044416 DOI: 10.1093/Jnen/Nlx085 |
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| 2017 |
Evers BM, Rodriguez-Navas C, Tesla RJ, Prange-Kiel J, Wasser CR, Yoo KS, McDonald J, Cenik B, Ravenscroft TA, Plattner F, Rademakers R, Yu G, White CL, Herz J. Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency. Cell Reports. 20: 2565-2574. PMID 28903038 DOI: 10.1016/J.Celrep.2017.08.056 |
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| 2017 |
Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie B, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, ... Rademakers R, et al. Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Research. PMID 28887402 DOI: 10.1101/Gr.225672.117 |
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| 2017 |
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, ... ... Rademakers R, et al. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron. 95: 808-816.e9. PMID 28817800 DOI: 10.1016/J.Neuron.2017.07.025 |
0.487 |
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| 2017 |
Ebbert MTW, Ross CA, Pregent LJ, Lank RJ, Zhang C, Katzman RB, Jansen-West K, Song Y, da Rocha EL, Palmucci C, Desaro P, Robertson AE, Caputo AM, Dickson DW, Boylan KB, ... Rademakers R, et al. Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease. Acta Neuropathologica. PMID 28808785 DOI: 10.1007/S00401-017-1760-4 |
0.378 |
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| 2017 |
Finch NA, Wang X, Baker MC, Heckman MG, Gendron TF, Bieniek KF, Wuu J, DeJesus-Hernandez M, Brown PH, Chew J, Jansen-West KR, Daughrity LM, Nicholson AM, Murray ME, Josephs KA, ... ... Rademakers R, et al. Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers. Neurology. Genetics. 3: e161. PMID 28660252 DOI: 10.1212/Nxg.0000000000000161 |
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| 2017 |
Prudencio M, Gonzales PK, Cook CN, Gendron TF, Daughrity LM, Song Y, Ebbert MTW, van Blitterswijk M, Zhang YJ, Jansen-West K, Baker MC, DeTure M, Rademakers R, Boylan KB, Dickson DW, et al. Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients. Human Molecular Genetics. PMID 28637276 DOI: 10.1093/Hmg/Ddx233 |
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| 2017 |
Lee SE, Sias AC, Mandelli ML, Brown JA, Brown AB, Khazenzon AM, Vidovszky AA, Zanto TP, Karydas AM, Pribadi M, Dokuru D, Coppola G, Geschwind DH, Rademakers R, Gorno-Tempini ML, et al. Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers. Neuroimage. Clinical. 14: 286-297. PMID 28337409 DOI: 10.1016/J.Nicl.2016.12.006 |
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| 2017 |
Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J, Momeni P, et al. Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathologica. PMID 28271184 DOI: 10.1007/S00401-017-1693-Y |
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| 2017 |
Boxer AL, Rosen HJ, Boeve BF, Heuer H, Grossman M, Coppola G, Dickerson BC, Bordelon YM, Dheel C, Faber K, Fields JA, Fong J, Foroud TM, Ghoshal N, Graff-Radford N, ... ... Rademakers R, et al. [P2-303]: ADVANCING RESEARCH AND TREATMENT IN FRONTOTEMPORAL LOBAR DEGENERATION (ARTFL) NORTH AMERICAN RARE DISEASE CLINICAL RESEARCH CONSORTIUM: PROGRESS AND CHARACTERIZATION OF INITIAL PARTICIPANTS Alzheimer's & Dementia. 13: P733-P734. DOI: 10.1016/J.Jalz.2017.06.956 |
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| 2017 |
Caneus J, Granic A, Rademakers R, Dickson DW, Coughlan CM, Chial HJ, Potter H. [P2-140]: ABNORMAL CHROMOSOME COPY NUMBER AND ASSOCIATED NEURONAL CELL DEATH IN FRONTOTEMPORAL LOBAR DEGENERATION Alzheimer's & Dementia. 13: P661-P661. DOI: 10.1016/J.Jalz.2017.06.790 |
0.308 |
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| 2017 |
Dheel CM, Boeve BF, Rosen HJ, Boxer AL, Coppola G, Dickerson BC, Faber K, Fields JA, Foroud TM, Gavrilova RH, Ghoshal N, Goldman J, Graff-Radford N, Grossman M, Heuer H, ... ... Rademakers R, et al. [P1-254]: CHARACTERISTICS AND PROGRESS ON THE INITIAL 209 SUBJECTS IN THE LONGITUDINAL EVALUATION OF FAMILIAL FRONTOTEMPORAL DEMENTIA SUBJECTS (LEFFTDS) PROTOCOL Alzheimer's & Dementia. 13: P345-P345. DOI: 10.1016/J.Jalz.2017.06.270 |
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| 2016 |
Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, ... ... Rademakers R, et al. ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiology of Aging. PMID 28017481 DOI: 10.1016/J.Neurobiolaging.2016.11.010 |
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| 2016 |
Tacik P, Sanchez-Contreras M, DeTure M, Murray ME, Rademakers R, Ross OA, Wszolek ZK, Parisi JE, Knopman DS, Petersen RC, Dickson DW. Clinicopathologic heterogeneity in FTDP-17 due to MAPT p.P301L mutation, including a patient with globular glial tauopathy. Neuropathology and Applied Neurobiology. PMID 27859539 DOI: 10.1111/Nan.12367 |
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| 2016 |
Miller ZA, Sturm VE, Camsari GB, Karydas A, Yokoyama JS, Grinberg LT, Boxer AL, Rosen HJ, Rankin KP, Gorno-Tempini ML, Coppola G, Geschwind DH, Rademakers R, Seeley WW, Graff-Radford NR, et al. Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture. Neurology(R) Neuroimmunology & Neuroinflammation. 3: e301. PMID 27844039 DOI: 10.1212/Nxi.0000000000000301 |
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| 2016 |
Sanchez-Contreras M, Heckman MG, Tacik P, Diehl N, Brown PH, Soto-Ortolaza AI, Christopher EA, Walton RL, Ross OA, Golbe LI, Graff-Radford N, Wszolek ZK, Dickson DW, Rademakers R. Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 27709685 DOI: 10.1002/Mds.26815 |
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| 2016 |
Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, ... ... Rademakers R, et al. TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiology of Aging. PMID 27658901 DOI: 10.1016/J.Neurobiolaging.2016.07.028 |
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| 2016 |
Nicholson AM, Rademakers R. What we know about TMEM106B in neurodegeneration. Acta Neuropathologica. PMID 27543298 DOI: 10.1007/S00401-016-1610-9 |
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| 2016 |
Tacik P, DeTure MA, Yari C, Lin WL, Murray ME, Baker MC, Josephs KA, Boeve BF, Wszolek ZK, Graff-Radford NR, Parisi JE, Petrucelli L, Rademakers R, Isaacson RS, Heilman KM, et al. FTDP-17 with pick body-like inclusions associated with a novel tau mutation, p.E372G. Brain Pathology (Zurich, Switzerland). PMID 27529406 DOI: 10.1111/Bpa.12428 |
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| 2016 |
Heckman MG, Soto-Ortolaza AI, Sanchez Contreras MY, Murray ME, Pedraza O, Diehl NN, Walton R, Labbé C, Lorenzo-Betancor O, Uitti RJ, van Gerpen J, Ertekin-Taner N, Smith GE, Kantarci K, Savica R, ... ... Rademakers R, et al. LRRK2 variation and dementia with Lewy bodies. Parkinsonism & Related Disorders. PMID 27521182 DOI: 10.1016/J.Parkreldis.2016.07.015 |
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| 2016 |
Walton RL, Soto-Ortolaza AI, Murray ME, Lorenzo-Betancor O, Ogaki K, Heckman MG, Rayaprolu S, Rademakers R, Ertekin-Taner N, Uitti RJ, van Gerpen JA, Wszolek ZK, Smith GE, Kantarci K, Lowe VJ, et al. TREM2 p.R47H substitution is not associated with dementia with Lewy bodies. Neurology. Genetics. 2: e85. PMID 27458607 DOI: 10.1212/Nxg.0000000000000085 |
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| 2016 |
Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, ... ... Rademakers R, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics. PMID 27455347 DOI: 10.1038/Ng.3626 |
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| 2016 |
Nicholson AM, Finch NA, Almeida M, Perkerson RB, van Blitterswijk M, Wojtas A, Cenik B, Rotondo S, Inskeep V, Almasy L, Dyer T, Peralta J, Jun G, Wood AR, Frayling TM, ... ... Rademakers R, et al. Prosaposin is a regulator of progranulin levels and oligomerization. Nature Communications. 7: 11992. PMID 27356620 DOI: 10.1038/Ncomms11992 |
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| 2016 |
Jaeger PA, Lucin KM, Britschgi M, Vardarajan B, Huang RP, Kirby ED, Abbey R, Boeve BF, Boxer AL, Farrer LA, Finch N, Graff-Radford NR, Head E, Hoffree M, Huang R, ... ... Rademakers R, et al. Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain. Molecular Neurodegeneration. 11: 31. PMID 27112350 DOI: 10.1186/S13024-016-0095-2 |
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| 2016 |
Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, ... ... Rademakers R, et al. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nature Communications. 7: 11253. PMID 27080313 DOI: 10.1038/Ncomms11253 |
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| 2016 |
Ravenscroft TA, Pottier C, Murray ME, Baker M, Christopher E, Levitch D, Brown PH, Barker W, Duara R, Greig-Custo M, Betancourt A, English M, Sun X, Ertekin-Taner N, Graff-Radford NR, ... ... Rademakers R, et al. The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. American Journal of Neurodegenerative Disease. 5: 94-101. PMID 27073747 |
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| 2016 |
Pottier C, Ravenscroft TA, Sanchez-Contreras M, Rademakers R. Genetics of FTLD: Overview and what else we can expect from genetic studies. Journal of Neurochemistry. PMID 27009575 DOI: 10.1111/Jnc.13622 |
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| 2016 |
Zhang YJ, Gendron TF, Grima JC, Sasaguri H, Jansen-West K, Xu YF, Katzman RB, Gass J, Murray ME, Shinohara M, Lin WL, Garrett A, Stankowski JN, Daughrity L, Tong J, ... ... Rademakers R, et al. C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nature Neuroscience. PMID 26998601 DOI: 10.1038/Nn.4272 |
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| 2016 |
Rodriguez-Porcel F, Lowder L, Rademakers R, Ravenscroft T, Ghetti B, Hagen MC, Espay AJ. Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome. Neurology. PMID 26873956 DOI: 10.1212/Wnl.0000000000002491 |
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| 2016 |
Koga S, Josephs KA, Ogaki K, Labbé C, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Aoki N, Rademakers R, Wszolek ZK, Ross OA, Dickson DW. Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 26841329 DOI: 10.1002/Mds.26499 |
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| 2016 |
Mutsaerts HJMM, Rohrer JD, Thomas DL, Cash DM, Vita Ed, Nicholas JM, Swieten JCv, Dopper EGP, Jiskoot LC, Minkelen Rv, Rombouts SARB, Dick KM, Bocchetta M, Cardoso MJ, Espak M, ... ... Rademakers R, et al. Cerebral Perfusion As An Imaging Biomarker Of Presymptomatic Genetic Frontotemporal Dementia: Preliminary Results From The Genetic Frontotemporal Dementia Initiative (Genfi) Alzheimers & Dementia. 12. DOI: 10.1016/J.Jalz.2016.06.772 |
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| 2016 |
Boeve BF, Jones DT, Lowe VJ, Wiste HJ, Senjem ML, Kantarci K, Knopman DS, Dheel C, Wszolek Z, Rademakers R, Petersen RC, Jack CR. Pet Tau Imaging With Av-1451 In Microtubule Associated Protein Tau (Mapt) Mutation Carriers Relative To Alzheimer’S Disease Dementia And Controls Alzheimers & Dementia. 12: 131. DOI: 10.1016/J.Jalz.2016.06.211 |
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| 2016 |
Dheel C, Przybelski SA, Senjem ML, Kantarci K, Jones DT, Fields JA, Machulda MM, Jack CR, Rademakers R, Knopman DS, Wszolek Z, Petersen RC, Boeve BF. Neuropsychological And Mri Findings In Mapt Mutation Carriers In The Evolution From The Asymptomatic To Symptomatic State Alzheimers & Dementia. 12: 720. DOI: 10.1016/J.Jalz.2016.06.1416 |
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| 2015 |
Bieniek KF, Ross OA, Cormier KA, Walton RL, Soto-Ortolaza A, Johnston AE, DeSaro P, Boylan KB, Graff-Radford NR, Wszolek ZK, Rademakers R, Boeve BF, McKee AC, Dickson DW. Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank. Acta Neuropathologica. PMID 26518018 DOI: 10.1007/S00401-015-1502-4 |
0.34 |
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| 2015 |
Dickson DW, Rademakers R, Nicholson AM, Schneider JA, Yu L, Bennett DA. The TMEM106B locus and TDP-43 pathology in older persons without FTLD. Neurology. 85: 1354-5. PMID 26459943 DOI: 10.1212/01.Wnl.0000472918.79256.A9 |
0.418 |
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| 2015 |
van Blitterswijk M, Gendron TF, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Daughrity LM, Murray ME, Heckman MG, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Josephs KA, Parisi JE, ... ... Rademakers R, et al. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. Acta Neuropathologica. PMID 26437865 DOI: 10.1007/S00401-015-1480-6 |
0.319 |
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| 2015 |
Tacik P, DeTure M, Hinkle KM, Lin WL, Sanchez-Contreras M, Carlomagno Y, Pedraza O, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease. Journal of Neuropathology and Experimental Neurology. 74: 1042-52. PMID 26426266 DOI: 10.1097/Nen.0000000000000248 |
0.384 |
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| 2015 |
Wren MC, Zhao J, Liu CC, Murray ME, Atagi Y, Davis MD, Fu Y, Okano HJ, Ogaki K, Strongosky AJ, Tacik P, Rademakers R, Ross OA, Dickson DW, Wszolek ZK, et al. Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells. Molecular Neurodegeneration. 10: 46. PMID 26373282 DOI: 10.1186/S13024-015-0042-7 |
0.483 |
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| 2015 |
Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK, Pedraza O, Lucas JA, Murray ME, Desaro P, Robertson A, Overstreet K, Thomas CS, Crook JE, Castanedes-Casey M, ... ... Rademakers R, et al. Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta Neuropathologica. 130: 559-73. PMID 26350237 DOI: 10.1007/S00401-015-1474-4 |
0.42 |
|
| 2015 |
Painter MM, Atagi Y, Liu CC, Rademakers R, Xu H, Fryer JD, Bu G. TREM2 in CNS homeostasis and neurodegenerative disease. Molecular Neurodegeneration. 10: 43. PMID 26337043 DOI: 10.1186/S13024-015-0040-9 |
0.368 |
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| 2015 |
Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, ... ... Rademakers R, et al. Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies. Neurology. PMID 26333800 DOI: 10.1212/Wnl.0000000000001946 |
0.322 |
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| 2015 |
Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG. A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. American Journal of Human Genetics. 97: 465-74. PMID 26279204 DOI: 10.1016/J.Ajhg.2015.07.009 |
0.412 |
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| 2015 |
Prudencio M, Belzil VV, Batra R, Ross CA, Gendron TF, Pregent LJ, Murray ME, Overstreet KK, Piazza-Johnston AE, Desaro P, Bieniek KF, DeTure M, Lee WC, Biendarra SM, Davis MD, ... ... Rademakers R, et al. Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS. Nature Neuroscience. 18: 1175-82. PMID 26192745 DOI: 10.1038/Nn.4065 |
0.331 |
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| 2015 |
Zeier Z, Esanov R, Belle KC, Volmar CH, Johnstone AL, Halley P, DeRosa BA, Khoury N, van Blitterswijk M, Rademakers R, Albert J, Brothers SP, Wuu J, Dykxhoorn DM, Benatar M, et al. Bromodomain inhibitors regulate the C9ORF72 locus in ALS. Experimental Neurology. 271: 241-50. PMID 26099177 DOI: 10.1016/J.Expneurol.2015.06.017 |
0.356 |
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| 2015 |
Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, ... ... Rademakers R, et al. Jump from Pre-mutation to Pathologic Expansion in C9orf72. American Journal of Human Genetics. 96: 962-70. PMID 26004200 DOI: 10.1016/J.Ajhg.2015.04.016 |
0.418 |
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| 2015 |
Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, ... ... Rademakers R, et al. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathologica. 130: 77-92. PMID 25943890 DOI: 10.1007/S00401-015-1436-X |
0.827 |
|
| 2015 |
Nakamura M, Bieniek KF, Lin WL, Graff-Radford NR, Murray ME, Castanedes-Casey M, Desaro P, Baker MC, Rutherford NJ, Robertson J, Rademakers R, Dickson DW, Boylan KB. A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration. Acta Neuropathologica. 130: 145-57. PMID 25917047 DOI: 10.1007/S00401-015-1431-2 |
0.48 |
|
| 2015 |
Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, ... ... Rademakers R, et al. A novel tau mutation, p.K317N, causes globular glial tauopathy. Acta Neuropathologica. 130: 199-214. PMID 25900293 DOI: 10.1007/S00401-015-1425-0 |
0.388 |
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| 2015 |
Flanagan EP, Baker MC, Perkerson RB, Duffy JR, Strand EA, Whitwell JL, Machulda MM, Rademakers R, Josephs KA. Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia. Dementia and Geriatric Cognitive Disorders. 39: 281-6. PMID 25765123 DOI: 10.1159/000375299 |
0.466 |
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| 2015 |
Whitwell JL, Boeve BF, Weigand SD, Senjem ML, Gunter JL, Baker MC, DeJesus-Hernandez M, Knopman DS, Wszolek ZK, Petersen RC, Rademakers R, Jack CR, Josephs KA. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 22: 745-52. PMID 25683866 DOI: 10.1111/Ene.12675 |
0.373 |
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| 2015 |
Fujioka S, Strongosky AJ, Hassan A, Rademakers R, Dickson DW, Wszolek ZK. Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia. Parkinsonism & Related Disorders. 21: 329-31. PMID 25609077 DOI: 10.1016/J.Parkreldis.2014.12.024 |
0.36 |
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| 2015 |
Ng AS, Rademakers R, Miller BL. Frontotemporal dementia: a bridge between dementia and neuromuscular disease. Annals of the New York Academy of Sciences. 1338: 71-93. PMID 25557955 DOI: 10.1111/Nyas.12638 |
0.445 |
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| 2015 |
Pottier C, Baker M, Dickson DW, Rademakers R. PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease. Brain : a Journal of Neurology. 138: e357. PMID 25414037 DOI: 10.1093/Brain/Awu332 |
0.36 |
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| 2015 |
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O. Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 22: 328-33. PMID 25311247 DOI: 10.1111/Ene.12572 |
0.397 |
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| 2015 |
Kertesz A, Finger E, Murrell J, Chertkow H, Ang LC, Baker M, Ravenscroft T, Rademakers R, Munoz DG. Progressive supranuclear palsy in a family with TDP-43 pathology. Neurocase. 21: 178-84. PMID 24479957 DOI: 10.1080/13554794.2013.878729 |
0.792 |
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| 2014 |
Rademakers R, van Blitterswijk M. Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS. Neuron. 84: 241-3. PMID 25374348 DOI: 10.1016/J.Neuron.2014.10.002 |
0.381 |
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| 2014 |
Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, et al. Analysis of COQ2 gene in multiple system atrophy. Molecular Neurodegeneration. 9: 44. PMID 25373618 DOI: 10.1186/1750-1326-9-44 |
0.456 |
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| 2014 |
van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, ... ... Rademakers R, et al. Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Molecular Neurodegeneration. 9: 38. PMID 25239657 DOI: 10.1186/1750-1326-9-38 |
0.437 |
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| 2014 |
Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, Sato C, Liang Y, Singleton A, Robertson J, Rademakers R, Zinman L, Rogaeva E. Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology. 83: 1476-8. PMID 25209579 DOI: 10.1212/Wnl.0000000000000886 |
0.469 |
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| 2014 |
Fujioka S, Boeve BF, Parisi JE, Tacik P, Aoki N, Strongosky AJ, Baker M, Sanchez-Contreras M, Ross OA, Rademakers R, Sossi V, Dickson DW, Stoessl AJ, Wszolek ZK. A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study. Parkinsonism & Related Disorders. 20: 1129-34. PMID 25175602 DOI: 10.1016/J.Parkreldis.2014.07.014 |
0.385 |
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| 2014 |
Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL, Sasaguri H, Caulfield T, Hubbard J, Daughrity L, Chew J, Belzil VV, Prudencio M, Stankowski JN, Castanedes-Casey M, ... ... Rademakers R, et al. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathologica. 128: 505-24. PMID 25173361 DOI: 10.1007/S00401-014-1336-5 |
0.346 |
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| 2014 |
Hallam BJ, Jacova C, Hsiung GY, Wittenberg D, Sengdy P, Bouchard-Kerr P, Slack P, Rademakers R, Baker M, Chow TW, Levine B, Feldman HH, Mackenzie IR. Early neuropsychological characteristics of progranulin mutation carriers. Journal of the International Neuropsychological Society : Jins. 20: 694-703. PMID 24993774 DOI: 10.1017/S1355617714000551 |
0.419 |
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| 2014 |
Guerreiro R, Brás J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiology of Aging. 35: 2656.e13-6. PMID 24958194 DOI: 10.1016/J.Neurobiolaging.2014.05.013 |
0.549 |
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| 2014 |
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, ... ... Rademakers R, et al. Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology. 13: 686-99. PMID 24943344 DOI: 10.1016/S1474-4422(14)70065-1 |
0.533 |
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| 2014 |
Murray ME, Cannon A, Graff-Radford NR, Liesinger AM, Rutherford NJ, Ross OA, Duara R, Carrasquillo MM, Rademakers R, Dickson DW. Differential clinicopathologic and genetic features of late-onset amnestic dementias. Acta Neuropathologica. 128: 411-21. PMID 24899141 DOI: 10.1007/S00401-014-1302-2 |
0.326 |
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| 2014 |
van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, ... ... Rademakers R, et al. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiology of Aging. 35: 2421.e13-7. PMID 24866401 DOI: 10.1016/J.Neurobiolaging.2014.04.016 |
0.443 |
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| 2014 |
Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R. ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family. European Neurology. 72: 64-71. PMID 24861139 DOI: 10.1159/000362267 |
0.41 |
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| 2014 |
Sanchez-Contreras M, Baker MC, Finch NA, Nicholson A, Wojtas A, Wszolek ZK, Ross OA, Dickson DW, Rademakers R. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. Human Mutation. 35: 964-71. PMID 24796542 DOI: 10.1002/Humu.22582 |
0.466 |
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| 2014 |
Bieniek KF, van Blitterswijk M, Baker MC, Petrucelli L, Rademakers R, Dickson DW. Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. Jama Neurology. 71: 775-81. PMID 24756204 DOI: 10.1001/Jamaneurol.2013.6368 |
0.372 |
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| 2014 |
Bit-Ivan EN, Lee KH, Gitelman D, Weintraub S, Mesulam M, Rademakers R, Isaacs AM, Hatanpaa KJ, White CL, Mao Q, Akman O, DiMauro S, Bigio EH. Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. Neuropathology and Applied Neurobiology. 40: 778-82. PMID 24750115 DOI: 10.1111/Nan.12144 |
0.38 |
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| 2014 |
Bit-Ivan EN, Suh E, Shim HS, Weintraub S, Hyman BT, Arnold SE, McCarty-Wood E, Van Deerlin VM, Schneider JA, Trojanowski JQ, Frosch MP, Baker MC, Rademakers R, Mesulam M, Bigio EH. A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. Journal of Neuropathology and Experimental Neurology. 73: 467-73. PMID 24709683 DOI: 10.1097/Nen.0000000000000070 |
0.407 |
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| 2014 |
Shinohara M, Fujioka S, Murray ME, Wojtas A, Baker M, Rovelet-Lecrux A, Rademakers R, Das P, Parisi JE, Graff-Radford NR, Petersen RC, Dickson DW, Bu G. Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease. Brain : a Journal of Neurology. 137: 1533-49. PMID 24625695 DOI: 10.1093/Brain/Awu046 |
0.407 |
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| 2014 |
Josephs KA, Duffy JR, Strand EA, Machulda MM, Vemuri P, Senjem ML, Perkerson RB, Baker MC, Lowe V, Jack CR, Rademakers R, Whitwell JL. Progranulin-associated PiB-negative logopenic primary progressive aphasia. Journal of Neurology. 261: 604-14. PMID 24449064 DOI: 10.1007/S00415-014-7243-9 |
0.36 |
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| 2014 |
van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, ... ... Rademakers R, et al. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathologica. 127: 397-406. PMID 24385136 DOI: 10.1007/S00401-013-1240-4 |
0.465 |
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| 2014 |
van Blitterswijk M, Rademakers R, van den Berg LH. Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations in TARDBP. Neuropathology and Applied Neurobiology. 40: 356-8. PMID 24237396 DOI: 10.1111/Nan.12099 |
0.431 |
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| 2014 |
Lee WC, Almeida S, Prudencio M, Caulfield TR, Zhang YJ, Tay WM, Bauer PO, Chew J, Sasaguri H, Jansen-West KR, Gendron TF, Stetler CT, Finch N, Mackenzie IR, Rademakers R, et al. Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency. Human Molecular Genetics. 23: 1467-78. PMID 24163244 DOI: 10.1093/Hmg/Ddt534 |
0.34 |
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| 2014 |
Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics. 15: 23-30. PMID 24135862 DOI: 10.1007/S10048-013-0378-5 |
0.603 |
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| 2014 |
Kouri N, Carlomagno Y, Baker M, Liesinger AM, Caselli RJ, Wszolek ZK, Petrucelli L, Boeve BF, Parisi JE, Josephs KA, Uitti RJ, Ross OA, Graff-Radford NR, DeTure MA, Dickson DW, ... Rademakers R, et al. Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathologica. 127: 271-82. PMID 24121548 DOI: 10.1007/S00401-013-1193-7 |
0.445 |
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| 2014 |
Caselli RJ, Locke DE, Dueck AC, Knopman DS, Woodruff BK, Hoffman-Snyder C, Rademakers R, Fleisher AS, Reiman EM. The neuropsychology of normal aging and preclinical Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 10: 84-92. PMID 23541188 DOI: 10.1016/J.Jalz.2013.01.004 |
0.321 |
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| 2014 |
Adeli A, Savica R, Lowe VJ, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Crum BA, Jack CR, Petersen RC, Boeve BF. The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome. Neurocase. 20: 110-20. PMID 23199140 DOI: 10.1080/13554794.2012.732090 |
0.429 |
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| 2014 |
Sitek EJ, Narozanska E, Barczak A, Jasinska-Myga B, Harciarek M, Chodakowska-Zebrowska M, Kubiak M, Wieczorek D, Konieczna S, Rademakers R, Baker M, Berdynski M, Brockhuis B, Barcikowska M, Zekanowski C, et al. Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? Neurocase. 20: 69-86. PMID 23121543 DOI: 10.1080/13554794.2012.732087 |
0.426 |
|
| 2014 |
Whitwell JL, Duffy JR, Strand EA, Machulda MM, Senjem ML, Schwarz CG, Gunter JL, Reid R, Baker MC, Perkerson RB, Lowe VJ, Rademakers R, Jack CR, Josephs KA. IC-P-030: CLINICAL AND NEUROIMAGING BIOMARKERS OF ALZHEIMER'S DISEASE PRESENTING WITH PROGRESSIVE APHASIA Alzheimer's & Dementia. 10: P19-P20. DOI: 10.1016/J.Jalz.2014.05.034 |
0.338 |
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| 2014 |
Graff-Radford J, Jones D, Weigand S, Przybelski S, Whitwell JL, Senjem M, Knopman DS, Graff-Radford NR, Josephs K, Wszolek Z, Vemuri P, Fields JA, Ferman TJ, Lucas J, Lowe VJ, ... ... Rademakers R, et al. Longitudinal Mri And Neuropsychological Changes In Symptomatic Frontotemporal Lobar Degeneration Subjects With Mutations In Mapt, Pgrn, And C9Orf72 Alzheimers & Dementia. 10. DOI: 10.1016/J.Jalz.2014.04.284 |
0.39 |
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| 2014 |
Jones DT, Weigand S, Przybelski S, Graff-Radford J, Mathew S, Gunter J, Whitwell JL, Knopman DS, Graff-Radford NR, Josephs K, Wszolek Z, Vemuri P, Fields JA, Machulda MM, Ferman TJ, ... ... Rademakers R, et al. Longitudinal Changes In Brain Mri And Neuropsychological Measures In Asymptomatic And Symptomatic Familial Frontotemporal Lobar Degeneration With Mutations In Mapt Alzheimers & Dementia. 10: 6. DOI: 10.1016/J.Jalz.2014.04.029 |
0.326 |
|
| 2013 |
Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathologica. 126: 895-905. PMID 24166615 DOI: 10.1007/S00401-013-1199-1 |
0.336 |
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| 2013 |
Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, et al. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathologica. 126: 829-44. PMID 24129584 DOI: 10.1007/S00401-013-1192-8 |
0.355 |
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| 2013 |
Kertesz A, Ang LC, Jesso S, MacKinley J, Baker M, Brown P, Shoesmith C, Rademakers R, Finger EC. Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort. Cognitive and Behavioral Neurology : Official Journal of the Society For Behavioral and Cognitive Neurology. 26: 146-54. PMID 24077574 DOI: 10.1097/Wnn.0000000000000008 |
0.465 |
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| 2013 |
van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, ... ... Rademakers R, et al. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 81: 1332-41. PMID 24027057 DOI: 10.1212/Wnl.0B013E3182A8250C |
0.808 |
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| 2013 |
van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC, ... ... Rademakers R, et al. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. The Lancet. Neurology. 12: 978-88. PMID 24011653 DOI: 10.1016/S1474-4422(13)70210-2 |
0.391 |
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| 2013 |
Jacova C, Hsiung GY, Tawankanjanachot I, Dinelle K, McCormick S, Gonzalez M, Lee H, Sengdy P, Bouchard-Kerr P, Baker M, Rademakers R, Sossi V, Stoessl AJ, Feldman HH, Mackenzie IR. Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers. Neurology. 81: 1322-31. PMID 24005336 DOI: 10.1212/Wnl.0B013E3182A8237E |
0.363 |
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| 2013 |
Murray ME, Bieniek KF, Banks Greenberg M, DeJesus-Hernandez M, Rutherford NJ, van Blitterswijk M, Niemantsverdriet E, Ash PE, Gendron TF, Kouri N, Baker M, Goodman IJ, Petrucelli L, Rademakers R, Dickson DW. Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72. Acta Neuropathologica. 126: 545-54. PMID 23922030 DOI: 10.1007/S00401-013-1161-2 |
0.498 |
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| 2013 |
Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL, Caselli R, ... ... Rademakers R, et al. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Molecular Neurodegeneration. 8: 19. PMID 23800361 DOI: 10.1186/1750-1326-8-19 |
0.425 |
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| 2013 |
Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, ... ... Rademakers R, et al. Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism & Related Disorders. 19: 869-77. PMID 23787135 DOI: 10.1016/J.Parkreldis.2013.05.013 |
0.434 |
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| 2013 |
Nicholson AM, Finch NA, Wojtas A, Baker MC, Perkerson RB, Castanedes-Casey M, Rousseau L, Benussi L, Binetti G, Ghidoni R, Hsiung GY, Mackenzie IR, Finger E, Boeve BF, Ertekin-Taner N, ... ... Rademakers R, et al. TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. Journal of Neurochemistry. 126: 781-91. PMID 23742080 DOI: 10.1111/Jnc.12329 |
0.425 |
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| 2013 |
Ravenscroft TA, Baker MC, Rutherford NJ, Neumann M, Mackenzie IR, Josephs KA, Boeve BF, Petersen R, Halliday GM, Kril J, van Swieten JC, Seeley WW, Dickson DW, Rademakers R. Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS. Neurobiology of Aging. 34: 2235.e11-3. PMID 23635657 DOI: 10.1016/J.Neurobiolaging.2013.04.004 |
0.777 |
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| 2013 |
van Blitterswijk M, Baker MC, Bieniek KF, Knopman DS, Josephs KA, Boeve B, Caselli R, Wszolek ZK, Petersen R, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 463-9. PMID 23634771 DOI: 10.3109/21678421.2013.787630 |
0.47 |
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| 2013 |
Cannon A, Fujioka S, Rutherford NJ, Ferman TJ, Broderick DF, Boylan KB, Graff-Radford NR, Uitti RJ, Rademakers R, Wszolek ZK, Dickson DW. Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis. Neurology. 80: 1771-7. PMID 23596077 DOI: 10.1212/Wnl.0B013E3182919059 |
0.478 |
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| 2013 |
Miller ZA, Rankin KP, Graff-Radford NR, Takada LT, Sturm VE, Cleveland CM, Criswell LA, Jaeger PA, Stan T, Heggeli KA, Hsu SC, Karydas A, Khan BK, Grinberg LT, Gorno-Tempini ML, ... ... Rademakers R, et al. TDP-43 frontotemporal lobar degeneration and autoimmune disease. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 956-62. PMID 23543794 DOI: 10.1136/Jnnp-2012-304644 |
0.414 |
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| 2013 |
Lee SE, Tartaglia MC, Yener G, Genç S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, López de Munain A, Combarros O, Kramer JH, Kenet RO, Boxer AL, et al. Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. Alzheimer Disease and Associated Disorders. 27: 302-9. PMID 23518664 DOI: 10.1097/Wad.0B013E31828Cc357 |
0.442 |
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| 2013 |
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 495: 467-73. PMID 23455423 DOI: 10.1038/Nature11922 |
0.441 |
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| 2013 |
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron. 77: 639-46. PMID 23415312 DOI: 10.1016/J.Neuron.2013.02.004 |
0.352 |
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| 2013 |
Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology. 80: 1033-40. PMID 23408870 DOI: 10.1212/Wnl.0B013E31828726A7 |
0.454 |
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| 2013 |
Josephs KA, Whitwell JL, Murray ME, Parisi JE, Graff-Radford NR, Knopman DS, Boeve BF, Senjem ML, Rademakers R, Jack CR, Petersen RC, Dickson DW. Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia. Brain : a Journal of Neurology. 136: 455-70. PMID 23358603 DOI: 10.1093/Brain/Aws324 |
0.348 |
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| 2013 |
Rademakers R, van Blitterswijk M. Motor neuron disease in 2012: Novel causal genes and disease modifiers. Nature Reviews. Neurology. 9: 63-4. PMID 23318296 DOI: 10.1038/Nrneurol.2012.276 |
0.419 |
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| 2013 |
Rayaprolu S, Fujioka S, Traynor S, Soto-Ortolaza AI, Petrucelli L, Dickson DW, Rademakers R, Boylan KB, Graff-Radford NR, Uitti RJ, Wszolek ZK, Ross OA. TARDBP mutations in Parkinson's disease. Parkinsonism & Related Disorders. 19: 312-5. PMID 23231971 DOI: 10.1016/J.Parkreldis.2012.11.003 |
0.495 |
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| 2013 |
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, ... ... Rademakers R, et al. TREM2 variants in Alzheimer's disease. The New England Journal of Medicine. 368: 117-27. PMID 23150934 DOI: 10.1056/Nejmoa1211851 |
0.539 |
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| 2013 |
Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilariño-Güell C, Farrer MJ, Wszolek ZK, Dickson DW. Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathologica. 125: 425-38. PMID 23124435 DOI: 10.1007/S00401-012-1059-4 |
0.345 |
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| 2013 |
Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, Rutherford NJ, Heckman MG, Traynor S, Strongosky A, Graff-Radford N, Van Gerpen J, Uitti RJ, Shih JJ, Lin SC, Wszolek ZK, Rademakers R, Ross OA. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism & Related Disorders. 19: 198-201. PMID 23084342 DOI: 10.1016/J.Parkreldis.2012.09.013 |
0.452 |
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| 2013 |
Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW. Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Acta Neuropathologica. 125: 289-302. PMID 23053135 DOI: 10.1007/S00401-012-1048-7 |
0.486 |
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| 2013 |
Coon EA, Daube JR, Dejesus-Hernandez M, Adeli A, Savica R, Parisi JE, Dickson DW, Josephs KA, Baker MC, Johnson KA, Ivnik RJ, Petersen RC, Knopman DS, Boylan KB, Rademakers R, et al. Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 132-7. PMID 23035801 DOI: 10.3109/17482968.2012.724075 |
0.368 |
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| 2013 |
Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R. Estimating the age of the most common Italian GRN mutation: walking back to Canossa times. Journal of Alzheimer's Disease : Jad. 33: 69-76. PMID 22890101 DOI: 10.3233/Jad-2012-121306 |
0.444 |
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| 2013 |
Gendron TF, Rademakers R, Petrucelli L. TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. Journal of Alzheimer's Disease : Jad. 33: S35-45. PMID 22751173 DOI: 10.3233/Jad-2012-129036 |
0.484 |
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| 2013 |
Bigio EH, Weintraub S, Rademakers R, Baker M, Ahmadian SS, Rademaker A, Weitner BB, Mao Q, Lee KH, Mishra M, Ganti RA, Mesulam MM. Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation. Neuropathology : Official Journal of the Japanese Society of Neuropathology. 33: 122-33. PMID 22702520 DOI: 10.1111/J.1440-1789.2012.01332.X |
0.496 |
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| 2013 |
McDade EM, Boeve BF, Fields JA, Kumar N, Rademakers R, Baker MC, Knopman BD, Petersen RC, Jack CR, Kantarci K. MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene. Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. 23: 409-13. PMID 22612156 DOI: 10.1111/J.1552-6569.2012.00717.X |
0.392 |
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| 2013 |
Whitwell JL, Xu J, Mandrekar J, Boeve BF, Knopman DS, Parisi JE, Senjem ML, Dickson DW, Petersen RC, Rademakers R, Jack CR, Josephs KA. Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates. Neurobiology of Aging. 34: 636-9. PMID 22502999 DOI: 10.1016/J.Neurobiolaging.2012.03.009 |
0.368 |
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| 2013 |
Melkebeke DV, Rademakers R, Baker M, Lammens M, Maes J, Hemelsoet D. A novel Csf1r mutation in hereditary diffuse leuko/INS;encephalopathy with spheroids Journal of the Neurological Sciences. 333. DOI: 10.1016/J.Jns.2013.07.2227 |
0.367 |
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| 2012 |
Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R. C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. American Journal of Neurodegenerative Disease. 1: 107-18. PMID 23383383 |
0.403 |
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| 2012 |
van Blitterswijk M, DeJesus-Hernandez M, Rademakers R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Current Opinion in Neurology. 25: 689-700. PMID 23160421 DOI: 10.1097/Wco.0B013E32835A3Efb |
0.372 |
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| 2012 |
Verbeeck C, Deng Q, Dejesus-Hernandez M, Taylor G, Ceballos-Diaz C, Kocerha J, Golde T, Das P, Rademakers R, Dickson DW, Kukar T. Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis. Molecular Neurodegeneration. 7: 53. PMID 23046583 DOI: 10.1186/1750-1326-7-53 |
0.499 |
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| 2012 |
Fujioka S, Rayaprolu S, Sundal C, Broderick DF, Langley WA, Shoffner J, Hyams LC, Rademakers R, Graff-Radford NR, Tatum W, Ross OA, Wszolek ZK. A novel de novo pathogenic mutation in the CACNA1A gene. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 1578-9. PMID 23038654 DOI: 10.1002/Mds.25198 |
0.431 |
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| 2012 |
Takada LT, Pimentel ML, Dejesus-Hernandez M, Fong JC, Yokoyama JS, Karydas A, Thibodeau MP, Rutherford NJ, Baker MC, Lomen-Hoerth C, Rademakers R, Miller BL. Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Archives of Neurology. 69: 1149-53. PMID 22964910 DOI: 10.1001/Archneurol.2012.650 |
0.471 |
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| 2012 |
Keller BA, Volkening K, Droppelmann CA, Ang LC, Rademakers R, Strong MJ. Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism. Acta Neuropathologica. 124: 733-47. PMID 22941224 DOI: 10.1007/S00401-012-1035-Z |
0.38 |
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| 2012 |
Kandiah N, Sengdy P, Mackenzie IR, Hsiung GY, de Jesus-Hernandez M, Rademakers R. Rapidly progressive dementia in a Chinese patient due to C90RF72 mutation. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 39: 676-7. PMID 22931716 |
0.346 |
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| 2012 |
Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas A, Baker MC, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee SE, et al. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology. 79: 1002-11. PMID 22875087 DOI: 10.1212/Wnl.0B013E318268452E |
0.435 |
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| 2012 |
Rutherford NJ, Carrasquillo MM, Li M, Bisceglio G, Menke J, Josephs KA, Parisi JE, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Rademakers R. TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease. Neurology. 79: 717-8. PMID 22855871 DOI: 10.1212/Wnl.0B013E318264E3Ac |
0.412 |
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| 2012 |
Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, ... ... Rademakers R, et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiology of Aging. 33: 2950.e5-7. PMID 22840558 DOI: 10.1016/J.Neurobiolaging.2012.07.005 |
0.478 |
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| 2012 |
Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R. C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository. Neurology. 79: 482-3. PMID 22815561 DOI: 10.1212/Wnl.0B013E31826170F1 |
0.373 |
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| 2012 |
Gass J, Lee WC, Cook C, Finch N, Stetler C, Jansen-West K, Lewis J, Link CD, Rademakers R, Nykjær A, Petrucelli L. Progranulin regulates neuronal outgrowth independent of sortilin. Molecular Neurodegeneration. 7: 33. PMID 22781549 DOI: 10.1186/1750-1326-7-33 |
0.614 |
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| 2012 |
Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nature Reviews. Neurology. 8: 423-34. PMID 22732773 DOI: 10.1038/Nrneurol.2012.117 |
0.443 |
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| 2012 |
Savica R, Adeli A, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Whitwell J, Jack CR, Lowe V, Petersen RC, Boeve BF. Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Archives of Neurology. 69: 1164-9. PMID 22637471 DOI: 10.1001/Archneurol.2012.772 |
0.425 |
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| 2012 |
Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, ... ... Rademakers R, et al. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Human Molecular Genetics. 21: 3500-12. PMID 22556362 DOI: 10.1093/Hmg/Dds161 |
0.454 |
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| 2012 |
Rayaprolu S, Soto-Ortolaza A, Rademakers R, Uitti RJ, Wszolek ZK, Ross OA. Angiogenin variation and Parkinson disease. Annals of Neurology. 71: 725-7; author reply . PMID 22522484 DOI: 10.1002/Ana.23586 |
0.36 |
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| 2012 |
McDade E, Boeve BF, Burrus TM, Boot BP, Kantarci K, Fields J, Lowe VJ, Peller P, Knopman D, Baker M, Finch N, Rademakers R, Petersen R. Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin. Neurology. 78: 1245-9. PMID 22491866 DOI: 10.1212/Wnl.0B013E318251594C |
0.309 |
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| 2012 |
Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE, et al. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 358-64. PMID 22399793 DOI: 10.1136/Jnnp-2011-301883 |
0.437 |
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| 2012 |
Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain : a Journal of Neurology. 135: 794-806. PMID 22366795 DOI: 10.1093/Brain/Aws001 |
0.492 |
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| 2012 |
Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, ... ... Rademakers R, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain : a Journal of Neurology. 135: 765-83. PMID 22366793 DOI: 10.1093/Brain/Aws004 |
0.469 |
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| 2012 |
Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain : a Journal of Neurology. 135: 709-22. PMID 22344582 DOI: 10.1093/Brain/Awr354 |
0.491 |
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| 2012 |
Wider C, Ross OA, Nishioka K, Heckman MG, Vilariño-Güell C, Jasinska-Myga B, Erketin-Taner N, Rademakers R, Graff-Radford NR, Mash DC, Papapetropoulos S, Duara R, Uchikado H, Wszolek ZK, Farrer MJ, et al. An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 424-9. PMID 22291217 DOI: 10.1136/Jnnp-2011-301413 |
0.387 |
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| 2012 |
Nicholson AM, Gass J, Petrucelli L, Rademakers R. Progranulin axis and recent developments in frontotemporal lobar degeneration. Alzheimer's Research & Therapy. 4: 4. PMID 22277331 DOI: 10.1186/Alzrt102 |
0.43 |
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| 2012 |
Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, DeJesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathologica. 123: 409-17. PMID 22228244 DOI: 10.1007/S00401-011-0937-5 |
0.508 |
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| 2012 |
Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nature Genetics. 44: 200-5. PMID 22197934 DOI: 10.1038/Ng.1027 |
0.43 |
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| 2012 |
Lee SE, Seeley WW, Poorzand P, Rademakers R, Karydas A, Stanley CM, Miller BL, Rankin KP. Clinical characterization of bvFTD due to FUS neuropathology. Neurocase. 18: 305-17. PMID 22060063 DOI: 10.1080/13554794.2011.604637 |
0.365 |
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| 2012 |
Sundal C, Lash J, Aasly J, Øygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. Journal of the Neurological Sciences. 314: 130-7. PMID 22050953 DOI: 10.1016/J.Jns.2011.10.006 |
0.359 |
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| 2012 |
Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF, Boxer AL, DeJesus-Hernandez M, Mackenzie IR, Waite A, Williams N, ... ... Rademakers R, et al. Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Aging. 33: 209.e3-8. PMID 21925771 DOI: 10.1016/J.Neurobiolaging.2011.08.005 |
0.472 |
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| 2012 |
Khan B, Rankin K, Sha S, Takada L, Yokoyama J, Karydas A, Fong J, Rutherford N, Baker M, DeJesus-Hernandez M, Coppola G, Rademakers R, Rosen H, Seeley W, Boxer A, et al. C9ORF72 Mutations in Two Patients with Slowly Progressive bvFTD "Phenocopy" (S54.006) Neurology. 78: S54.006-S54.006. DOI: 10.1212/Wnl.78.1_Meetingabstracts.S54.006 |
0.456 |
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| 2012 |
Sundal C, Fujioka S, Van Gerpen J, Wider C, Aasly J, Roeber S, Shuster E, Ghetti B, Garbern J, Tselis A, Swerdlow R, Miller B, Rademakers R, Dickson D, Broderick D, et al. Observational Study for MRI Characteristics in HDLS with a Known Gene Mutation on Chromosome 5 (P06.180) Neurology. 78: P06.180-P06.180. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P06.180 |
0.383 |
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| 2012 |
Savica R, Graff-Radford N, DeJesus-Hernandez M, Knopman D, Adeli A, Boot B, Kuntz K, Petersen R, Rutherford N, Baker M, Rademakers R, Boeve B. Clinical Characteristics of Parkinsonism in Frontotemporal Dementia Syndromes Associated with Mutations in MAPT, PGRN, C9ORF72 (P06.075) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P06.075 |
0.48 |
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| 2012 |
Sundal C, Van Gerpen J, Fujioka S, Aasly J, Wider C, Roeber S, Shuster E, Ghetti B, Garbern J, Tselis A, Swerdlow R, Rademakers R, Dickson D, Broderick D, Wszolek Z. HDLS: Due to CSF1R Gene Mutation; Clinical Characteristics (P05.119) Neurology. 78: P05.119-P05.119. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.119 |
0.407 |
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| 2012 |
Pedraza O, Boeve B, DeJesus-Hernandez M, Rush B, Lucas J, Fields J, Machulda M, Graff-Radford N, Knopman D, Josephs K, Rutherford N, Baker M, Ferman T, Smith G, Ivnik R, ... ... Rademakers R, et al. Cognitive Endophenotype Associated with the C9ORF72 GGGGCC Expansion in FTD/ALS (P05.063) Neurology. 78: P05.063-P05.063. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.063 |
0.395 |
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| 2012 |
Whitwell J, Weigand S, Boeve B, Senjem M, DeJesus-Hernandez M, Baker M, Knopman D, Wszolek Z, Parisi J, Dickson D, Petersen R, Rademakers R, Jack C, Josephs K. Neuroanatomical Signature of C9ORF72: A Comparison to MAPT, Progranulin and Sporadic FTD (P05.061) Neurology. 78: P05.061-P05.061. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.061 |
0.301 |
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| 2012 |
Yokoyama J, Takada L, Sha S, Karydas A, Khan B, Fong J, DeJesus-Hernandez M, Rutherford N, Baker M, Rademakers R, Coppola G, Seeley W, Boxer A, Miller B, Rankin K. Differential Effect of the C9ORF72 Hexanucleotide Repeat on Brain Morphology in bvFTD and FTD-ALS (IN9-2.005) Neurology. 78: IN9-2.005-IN9-2.005. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In9-2.005 |
0.338 |
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| 2012 |
Takada L, Sha S, Rankin K, Yokoyama J, Khan B, Karydas A, Fong J, DeJesus-Hernandez M, Rutherford N, Baker M, Rademakers R, Coppola G, Seeley W, Boxer A, Miller B. Neuropsychiatric Features of C9ORF72 Mutation-Associated bvFTD and FTD-ALS (IN9-2.003) Neurology. 78: IN9-2.003-IN9-2.003. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In9-2.003 |
0.418 |
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| 2012 |
Boylan K, DeJesus-Hernandez M, Rush B, Desaro P, Johnston A, Kryston T, Rutherford N, Baker M, Wszolek Z, Dickson D, Rademakers R. Phenotype of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia with ALS (FTD/ALS) Associated with the GGGGCC Repeat Expansion in C9ORF72 (c9FTD/ALS) (IN9-1.004) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In9-1.004 |
0.34 |
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| 2012 |
Hsiung G, DeJesus-Hernandez M, Feldman H, Sengdy P, Bouchard-Kerr P, Dwosh E, Leung B, Fok A, Rutherford N, Baker M, Rademakers R, Mackenzie IRA. Clinical Heterogeneity in Familial Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Caused by C9ORF72 Mutation (IN9-1.001) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In9-1.001 |
0.462 |
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| 2012 |
Kantarci K, Boeve B, Wszolek Z, Przybelski S, Senjem M, Baker M, Knopman D, Rademakers R, Petersen R, Jack C. Anteromedial temporal lobe DTI and structural MRI changes in presymptomatic and symptomatic MAPT mutation carriers Alzheimers & Dementia. 8: 170. DOI: 10.1016/J.Jalz.2012.05.456 |
0.36 |
|
| 2012 |
Boeve B, Graff-Radford N, Boylan K, DeJesus-Hernandez M, Knopman D, Josephs K, Pedraza O, Baker M, Dickson D, Petersen R, Rademakers R. O1-05-06: Characterization of frontotemporal dementia +/- amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 Alzheimer's & Dementia. 8: P94-P94. DOI: 10.1016/J.Jalz.2012.05.2129 |
0.332 |
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| 2012 |
Youn YC, Jacova C, Jang J, Sengdy P, Kee BS, Feldman H, Rademakers R, Mackenzie I, Hsiung G. Longitudinal gray and white matter changes in progranulin mutation carriers at risk for FTD: A VBM study Alzheimers & Dementia. 8: 689. DOI: 10.1016/J.Jalz.2012.05.1859 |
0.375 |
|
| 2012 |
Kantarci K, Boeve B, Wszolek Z, Przybelski S, Senjem M, Baker M, Knopman D, Rademakers R, Petersen R, Jack C. Anteromedial temporal lobe diffusion tensor imaging and structural MRI changes in presymptomatic and symptomatic microtubule-associated protein tau (MAPT) mutation carriers Alzheimers & Dementia. 8: 71. DOI: 10.1016/J.Jalz.2012.05.168 |
0.367 |
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| 2012 |
Graff-Radford N, Murray M, Ross O, Duara R, Rademakers R, Whitwell J, Dickson D. O4-04-01: Differentiating clinicopathologic and genetic aspects of hippocampal sclerosis in Alzheimer's disease from limbic predominant Alzheimer's disease and “pure” hippocampal sclerosis Alzheimer's & Dementia. 8: P620-P621. DOI: 10.1016/J.Jalz.2012.05.1652 |
0.351 |
|
| 2011 |
Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathologica. 122: 673-90. PMID 22083254 DOI: 10.1007/S00401-011-0907-Y |
0.446 |
|
| 2011 |
Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, ... ... Rademakers R, et al. A yeast functional screen predicts new candidate ALS disease genes. Proceedings of the National Academy of Sciences of the United States of America. 108: 20881-90. PMID 22065782 DOI: 10.1073/Pnas.1109434108 |
0.384 |
|
| 2011 |
Kocerha J, Kouri N, Baker M, Finch N, DeJesus-Hernandez M, Gonzalez J, Chidamparam K, Josephs KA, Boeve BF, Graff-Radford NR, Crook J, Dickson DW, Rademakers R. Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations. Bmc Genomics. 12: 527. PMID 22032330 DOI: 10.1186/1471-2164-12-527 |
0.32 |
|
| 2011 |
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, ... ... Rademakers R, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 72: 245-56. PMID 21944778 DOI: 10.1016/J.Neuron.2011.09.011 |
0.427 |
|
| 2011 |
Kouri N, Murray ME, Hassan A, Rademakers R, Uitti RJ, Boeve BF, Graff-Radford NR, Wszolek ZK, Litvan I, Josephs KA, Dickson DW. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain : a Journal of Neurology. 134: 3264-75. PMID 21933807 DOI: 10.1093/Brain/Awr234 |
0.358 |
|
| 2011 |
Kumar N, Boeve BF, Boot BP, Orr CF, Duffy J, Woodruff BK, Nair AK, Ellison J, Kuntz K, Kantarci K, Jack CR, Westmoreland BF, Fields JA, Baker M, Rademakers R, et al. Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. Archives of Neurology. 68: 1165-70. PMID 21911696 DOI: 10.1001/Archneurol.2011.187 |
0.435 |
|
| 2011 |
Dopper EGP, Seelaar H, Chiu WZ, De Koning I, Van Minkelen R, Baker MC, Rozemuller AJM, Rademakers R, Van Swieten JC. Symmetrical corticobasal syndrome caused by a novel c.314dup progranulin mutation Journal of Molecular Neuroscience. 45: 354-358. PMID 21863316 DOI: 10.1007/s12031-011-9626-z |
0.419 |
|
| 2011 |
Neumann M, Bentmann E, Dormann D, Jawaid A, DeJesus-Hernandez M, Ansorge O, Roeber S, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ang LC, Bilbao J, Rademakers R, Haass C, et al. FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Brain : a Journal of Neurology. 134: 2595-609. PMID 21856723 DOI: 10.1093/Brain/Awr201 |
0.455 |
|
| 2011 |
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nature Genetics. 43: 699-705. PMID 21685912 DOI: 10.1038/Ng.859 |
0.514 |
|
| 2011 |
Nicholson AM, Finch NA, Rademakers R. Human genetics as a tool to identify progranulin regulators. Journal of Molecular Neuroscience : Mn. 45: 532-7. PMID 21626010 DOI: 10.1007/S12031-011-9554-Y |
0.321 |
|
| 2011 |
Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, ... ... Rademakers R, et al. Ataxin-2 repeat-length variation and neurodegeneration. Human Molecular Genetics. 20: 3207-12. PMID 21610160 DOI: 10.1093/Hmg/Ddr227 |
0.435 |
|
| 2011 |
Mackenzie IR, Ansorge O, Strong M, Bilbao J, Zinman L, Ang LC, Baker M, Stewart H, Eisen A, Rademakers R, Neumann M. Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation. Acta Neuropathologica. 122: 87-98. PMID 21604077 DOI: 10.1007/S00401-011-0838-7 |
0.505 |
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| 2011 |
Kouri N, Whitwell JL, Josephs KA, Rademakers R, Dickson DW. Corticobasal degeneration: a pathologically distinct 4R tauopathy. Nature Reviews. Neurology. 7: 263-72. PMID 21487420 DOI: 10.1038/Nrneurol.2011.43 |
0.431 |
|
| 2011 |
Chen-Plotkin AS, Martinez-Lage M, Sleiman PM, Hu W, Greene R, Wood EM, Bing S, Grossman M, Schellenberg GD, Hatanpaa KJ, Weiner MF, White CL, Brooks WS, Halliday GM, Kril JJ, ... ... Rademakers R, et al. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Archives of Neurology. 68: 488-97. PMID 21482928 DOI: 10.1001/Archneurol.2011.53 |
0.458 |
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| 2011 |
Pao WC, Dickson DW, Crook JE, Finch NA, Rademakers R, Graff-Radford NR. Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically. Alzheimer Disease and Associated Disorders. 25: 364-8. PMID 21346515 DOI: 10.1097/Wad.0B013E31820F8F50 |
0.425 |
|
| 2011 |
Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa KJ, Karydas AM, Sengdy P, ... ... Rademakers R, et al. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology. 76: 467-74. PMID 21178100 DOI: 10.1212/Wnl.0B013E31820A0E3B |
0.417 |
|
| 2011 |
Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GY, Rutherford N, Laluz V, Whitwell J, Foti D, McDade E, Molano J, Karydas A, ... ... Rademakers R, et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. Journal of Neurology, Neurosurgery, and Psychiatry. 82: 196-203. PMID 20562461 DOI: 10.1136/Jnnp.2009.204081 |
0.436 |
|
| 2011 |
Narożańska E, Jasińska-Myga B, Sitek EJ, Robowski P, Brockhuis B, Lass P, Dubaniewicz M, Wieczorek D, Baker M, Rademakers R, Wszolek ZK, Sławek J. Frontotemporal dementia and parkinsonism linked to chromosome 17--the first Polish family. European Journal of Neurology. 18: 535-7. PMID 20561037 DOI: 10.1111/J.1468-1331.2010.03107.X |
0.429 |
|
| 2010 |
Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, ... ... Rademakers R, et al. Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. American Journal of Human Genetics. 87: 890-7. PMID 21087763 DOI: 10.1016/J.Ajhg.2010.11.002 |
0.358 |
|
| 2010 |
Rutherford NJ, Finch NA, DeJesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, Uitti RJ, Graff-Radford NR, Rademakers R. Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 424.e23-4. PMID 21074900 DOI: 10.1016/J.Neurobiolaging.2010.09.029 |
0.41 |
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| 2010 |
Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. The Lancet. Neurology. 9: 995-1007. PMID 20864052 DOI: 10.1016/S1474-4422(10)70195-2 |
0.393 |
|
| 2010 |
Xu YF, Gendron TF, Zhang YJ, Lin WL, D'Alton S, Sheng H, Casey MC, Tong J, Knight J, Yu X, Rademakers R, Boylan K, Hutton M, McGowan E, Dickson DW, et al. Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 10851-9. PMID 20702714 DOI: 10.1523/Jneurosci.1630-10.2010 |
0.7 |
|
| 2010 |
Rademakers R, Stewart H, Dejesus-Hernandez M, Krieger C, Graff-Radford N, Fabros M, Briemberg H, Cashman N, Eisen A, Mackenzie IR. Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis. Muscle & Nerve. 42: 170-6. PMID 20544928 DOI: 10.1002/Mus.21665 |
0.486 |
|
| 2010 |
Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE, Dickson DW, Rademakers R, et al. FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathologica. 120: 33-41. PMID 20490813 DOI: 10.1007/S00401-010-0698-6 |
0.434 |
|
| 2010 |
DeJesus-Hernandez M, Kocerha J, Finch N, Crook R, Baker M, Desaro P, Johnston A, Rutherford N, Wojtas A, Kennelly K, Wszolek ZK, Graff-Radford N, Boylan K, Rademakers R. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Human Mutation. 31: E1377-89. PMID 20232451 DOI: 10.1002/Humu.21241 |
0.478 |
|
| 2010 |
Dickson DW, Baker M, Rademakers R. Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly. Neuro-Degenerative Diseases. 7: 170-4. PMID 20197700 DOI: 10.1159/000289231 |
0.34 |
|
| 2010 |
Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nature Genetics. 42: 234-9. PMID 20154673 DOI: 10.1038/Ng.536 |
0.519 |
|
| 2010 |
Kelley BJ, Haidar W, Boeve BF, Baker M, Shiung M, Knopman DS, Rademakers R, Hutton M, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Petersen RC. Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. Archives of Neurology. 67: 171-7. PMID 20142525 DOI: 10.1001/Archneurol.2010.113 |
0.64 |
|
| 2010 |
Tartaglia MC, Sidhu M, Laluz V, Racine C, Rabinovici GD, Creighton K, Karydas A, Rademakers R, Huang EJ, Miller BL, DeArmond SJ, Seeley WW. Sporadic corticobasal syndrome due to FTLD-TDP. Acta Neuropathologica. 119: 365-74. PMID 19876635 DOI: 10.1007/S00401-009-0605-1 |
0.491 |
|
| 2010 |
Xu Y, Gendron T, Zhang Y, Lin W, D'Alton S, Sheng H, Crook R, Casey MC, Tong J, Knight J, Yu X, Rademakers R, Boylan K, Hutton M, McGowan E, et al. P1-185: Wild-type human TDP-43 induces mitochondrial abnormalities and axonal degeneration in transgenic mice Alzheimer's & Dementia. 6: S227-S227. DOI: 10.1016/J.Jalz.2010.05.735 |
0.627 |
|
| 2010 |
Gass JM, Cook C, Rademakers R, Lewis J, Petrucelli L. O1-07-02: Loss of progranulin and its impact on neuronal function Alzheimer's & Dementia. 6: S83-S83. DOI: 10.1016/J.Jalz.2010.05.250 |
0.539 |
|
| 2010 |
Kantarci K, Boeve BF, Wszolek ZK, Rademakers R, Whitwell JL, Baker MC, Senjem ML, Knopman DS, Petersen RC, Jack CR. 1H MR spectroscopy in presymptomatic MAPT mutation carriers: A biomarker for tau mediated pathology Alzheimers & Dementia. 6. DOI: 10.1016/J.Jalz.2010.05.120 |
0.399 |
|
| 2009 |
Sitek EJ, Narożańska E, Sławek J, Wieczorek D, Brockhuis B, Lass P, Dubaniewicz M, Jasińska-Myga B, Baker M, Rademakers R, Wszołek ZK. Unilateral neglect in a patient diagnosed with frontotemporal dementia and parkinsonism linked to chromosome 17. Acta Neuropsychiatrica. 21: 209-10. PMID 25384634 DOI: 10.1111/J.1601-5215.2009.00367.X |
0.332 |
|
| 2009 |
Jawaid A, Rademakers R, Kass JS, Kalkonde Y, Schulz PE. Traumatic brain injury may increase the risk for frontotemporal dementia through reduced progranulin. Neuro-Degenerative Diseases. 6: 219-20. PMID 20145419 DOI: 10.1159/000258704 |
0.428 |
|
| 2009 |
Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA, Mackenzie IR. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain : a Journal of Neurology. 132: 2922-31. PMID 19674978 DOI: 10.1093/Brain/Awp214 |
0.485 |
|
| 2009 |
Neumann M, Roeber S, Kretzschmar HA, Rademakers R, Baker M, Mackenzie IR. Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathologica. 118: 605-16. PMID 19669651 DOI: 10.1007/S00401-009-0581-5 |
0.455 |
|
| 2009 |
Rademakers R, Rovelet-Lecrux A. Recent insights into the molecular genetics of dementia. Trends in Neurosciences. 32: 451-61. PMID 19640594 DOI: 10.1016/J.Tins.2009.05.005 |
0.34 |
|
| 2009 |
Gitcho MA, Bigio EH, Mishra M, Johnson N, Weintraub S, Mesulam M, Rademakers R, Chakraverty S, Cruchaga C, Morris JC, Goate AM, Cairns NJ. TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathologica. 118: 633-45. PMID 19618195 DOI: 10.1007/S00401-009-0571-7 |
0.463 |
|
| 2009 |
Caselli RJ, Dueck AC, Osborne D, Sabbagh MN, Connor DJ, Ahern GL, Baxter LC, Rapcsak SZ, Shi J, Woodruff BK, Locke DE, Snyder CH, Alexander GE, Rademakers R, Reiman EM. Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. The New England Journal of Medicine. 361: 255-63. PMID 19605830 DOI: 10.1056/Nejmoa0809437 |
0.32 |
|
| 2009 |
Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, ... ... Rademakers R, et al. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology. 72: 2024-8. PMID 19506225 DOI: 10.1212/Wnl.0B013E3181A92C4C |
0.396 |
|
| 2009 |
Jasinska-Myga B, Wider C, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Baker M, Rademakers R, Uitti RJ, Farrer MJ, Ross OA, Wszolek ZK. GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 16: 909-11. PMID 19473366 DOI: 10.1111/J.1468-1331.2009.02621.X |
0.341 |
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| 2009 |
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, ... Rademakers R, et al. Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. Neurobiology of Aging. 30: 656-65. PMID 19217189 DOI: 10.1016/J.Neurobiolaging.2009.01.009 |
0.398 |
|
| 2009 |
Finch N, Baker M, Crook R, Swanson K, Kuntz K, Surtees R, Bisceglio G, Rovelet-Lecrux A, Boeve B, Petersen RC, Dickson DW, Younkin SG, Deramecourt V, Crook J, Graff-Radford NR, ... Rademakers R, et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain : a Journal of Neurology. 132: 583-91. PMID 19158106 DOI: 10.1093/Brain/Awn352 |
0.49 |
|
| 2009 |
Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, Gutmann L, Lechevalier B, Calne DB, Personett DA, Hulihan M, Kachergus J, Rademakers R, Baker MC, Grantier LL, Sujith OK, et al. Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism & Related Disorders. 15: 281-6. PMID 18723384 DOI: 10.1016/J.Parkreldis.2008.07.005 |
0.422 |
|
| 2009 |
Kelley BJ, Haidar W, Boeve BF, Baker M, Graff-Radford NR, Krefft T, Frank AR, Jack CR, Shiung M, Knopman DS, Josephs KA, Parashos SA, Rademakers R, Hutton M, Pickering-Brown S, et al. Prominent phenotypic variability associated with mutations in Progranulin. Neurobiology of Aging. 30: 739-51. PMID 17949857 DOI: 10.1016/J.Neurobiolaging.2007.08.022 |
0.638 |
|
| 2009 |
Mackenzie IR, Neumann M, Rademakers R, Munoz DG. Frontotemporal Dementia With FUS Pathology Alzheimers & Dementia. 5. DOI: 10.1016/J.Jalz.2009.07.128 |
0.34 |
|
| 2009 |
Whitwell JL, Jack CR, Boeve BF, Senjem ML, Rademakers R, Baker M, Ivnik RJ, Knopman DS, Wszolek ZK, Petersen RC, Josephs KA. IC-O1-04: Patterns of brain atrophy in frontotemporal dementia with mutations in MAPT or PGRN Alzheimer's & Dementia. 5: P4-P4. DOI: 10.1016/J.Jalz.2009.05.014 |
0.362 |
|
| 2009 |
Pao W, Dickson DW, Baker MC, Rademakers R, Graff-Radford NR. P1-059: Hippocampal sclerosis (HpScl) in the elderly with dementia: Clinical, genetic and pathologic findings Alzheimer's & Dementia. 5: P188-P189. DOI: 10.1016/J.Jalz.2009.04.063 |
0.361 |
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| 2008 |
Mackenzie IR, Rademakers R. The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia. Current Opinion in Neurology. 21: 693-700. PMID 18989115 DOI: 10.1097/Wco.0B013E3283168D1D |
0.319 |
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| 2008 |
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, ... ... Rademakers R, et al. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. Plos Genetics. 4: e1000193. PMID 18802454 DOI: 10.1371/Journal.Pgen.1000193 |
0.635 |
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| 2008 |
Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, et al. Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Human Molecular Genetics. 17: 3631-42. PMID 18723524 DOI: 10.1093/Hmg/Ddn257 |
0.557 |
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| 2008 |
Coppola G, Karydas A, Rademakers R, Wang Q, Baker M, Hutton M, Miller BL, Geschwind DH. Gene expression study on peripheral blood identifies progranulin mutations. Annals of Neurology. 64: 92-6. PMID 18551524 DOI: 10.1002/Ana.21397 |
0.579 |
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| 2008 |
Winton MJ, Van Deerlin VM, Kwong LK, Yuan W, Wood EM, Yu CE, Schellenberg GD, Rademakers R, Caselli R, Karydas A, Trojanowski JQ, Miller BL, Lee VM. A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. Febs Letters. 582: 2252-6. PMID 18505686 DOI: 10.1016/J.Febslet.2008.05.024 |
0.331 |
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| 2008 |
Wider C, Uitti RJ, Wszolek ZK, Fang JY, Josephs KA, Baker MC, Rademakers R, Hutton ML, Dickson DW. Progranulin gene mutation with an unusual clinical and neuropathologic presentation. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1168-73. PMID 18442119 DOI: 10.1002/Mds.22065 |
0.645 |
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| 2008 |
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, et al. TDP-43 A315T mutation in familial motor neuron disease. Annals of Neurology. 63: 535-8. PMID 18288693 DOI: 10.1002/Ana.21344 |
0.454 |
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| 2008 |
Nuytemans K, Rademakers R, Theuns J, Pals P, Engelborghs S, Pickut B, de Pooter T, Peeters K, Mattheijssens M, Van den Broeck M, Cras P, De Deyn PP, van Broeckhoven C. Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients. European Journal of Human Genetics : Ejhg. 16: 471-9. PMID 18197194 DOI: 10.1038/Sj.Ejhg.5201986 |
0.347 |
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| 2008 |
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CH, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, et al. P3-287: TDP-43 A315T mutation in familial motor neuron disease Alzheimer's & Dementia. 4: T606-T607. DOI: 10.1016/J.Jalz.2008.05.1855 |
0.42 |
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| 2007 |
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. The Lancet. Neurology. 6: 857-68. PMID 17826340 DOI: 10.1016/S1474-4422(07)70221-1 |
0.611 |
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| 2007 |
Mackenzie IR, Rademakers R. The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. Neurogenetics. 8: 237-48. PMID 17805587 DOI: 10.1007/S10048-007-0102-4 |
0.468 |
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| 2007 |
Rademakers R, Hutton M. The genetics of frontotemporal lobar degeneration. Current Neurology and Neuroscience Reports. 7: 434-42. PMID 17764635 DOI: 10.1007/S11910-007-0067-6 |
0.617 |
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| 2007 |
Davion S, Johnson N, Weintraub S, Mesulam MM, Engberg A, Mishra M, Baker M, Adamson J, Hutton M, Rademakers R, Bigio EH. Clinicopathologic correlation in PGRN mutations. Neurology. 69: 1113-21. PMID 17522386 DOI: 10.1212/01.Wnl.0000267701.58488.69 |
0.612 |
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| 2007 |
Dickson DW, Rademakers R, Hutton ML. Progressive supranuclear palsy: pathology and genetics. Brain Pathology (Zurich, Switzerland). 17: 74-82. PMID 17493041 DOI: 10.1111/J.1750-3639.2007.00054.X |
0.581 |
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| 2007 |
Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chiò A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli RJ, ... ... Rademakers R, et al. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. Journal of Neurology, Neurosurgery, and Psychiatry. 78: 754-6. PMID 17371905 DOI: 10.1136/Jnnp.2006.109553 |
0.646 |
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| 2007 |
Whitwell JL, Jack CR, Baker M, Rademakers R, Adamson J, Boeve BF, Knopman DS, Parisi JF, Petersen RC, Dickson DW, Hutton ML, Josephs KA. Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. Archives of Neurology. 64: 371-6. PMID 17353379 DOI: 10.1001/Archneur.64.3.371 |
0.566 |
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| 2007 |
Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, et al. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. Journal of Neuropathology and Experimental Neurology. 66: 142-51. PMID 17278999 DOI: 10.1097/Nen.0B013E31803020Cf |
0.582 |
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| 2006 |
Mackenzie IR, Baker M, Pickering-Brown S, Hsiung GY, Lindholm C, Dwosh E, Gass J, Cannon A, Rademakers R, Hutton M, Feldman HH. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain : a Journal of Neurology. 129: 3081-90. PMID 17071926 DOI: 10.1093/Brain/Awl271 |
0.591 |
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| 2006 |
Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Josephs KA, Hutton M, Pickering-Brown SM, Rademakers R, Tang-Wai D, Jack CR, Kantarci K, Shiung MM, Golde T, Smith GE, et al. Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. Brain : a Journal of Neurology. 129: 3103-14. PMID 17030535 DOI: 10.1093/Brain/Awl268 |
0.587 |
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| 2006 |
Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, ... ... Rademakers R, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Human Molecular Genetics. 15: 2988-3001. PMID 16950801 DOI: 10.1093/Hmg/Ddl241 |
0.806 |
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| 2006 |
Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 442: 916-9. PMID 16862116 DOI: 10.1038/Nature05016 |
0.814 |
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| 2006 |
Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 442: 920-4. PMID 16862115 DOI: 10.1038/Nature05017 |
0.401 |
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| 2006 |
van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, et al. A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain : a Journal of Neurology. 129: 841-52. PMID 16495329 DOI: 10.1093/Brain/Awl029 |
0.473 |
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| 2006 |
Chu SA, Flagan TM, Jiskoot LC, Seeley WW, Papma JM, Deng J, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Brushaber D, Grossman M, Coppola G, Dickerson BC, Bordelon YM, ... ... Rademakers R, et al. P1-433: GRAY MATTER DEFICITS IN SYMPTOMATIC AND PRESYMPTOMATIC MAPT
MUTATION CARRIERS Alzheimer's & Dementia. 14: P475-P476. DOI: 10.1016/J.Jalz.2018.06.442 |
0.406 |
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| 2006 |
Reddy JS, Allen M, Wang X, Biernacka JM, Gregory JD, Toral SM, McDonnell SK, Sarangi V, Sinnwell JP, Asmann YW, Carrasquillo MM, Pottier CP, Ren Y, Younkin CS, Rademakers R, et al. O3-06-02: POLYGENIC SCORE ANALYSIS OF EXONIC VARIANTS IN AN IMMUNE CO-REGULATORY NETWORK IDENTIFIES NOVEL PROTEIN-ALTERING VARIANTS THAT ASSOCIATE WITH ALZHEIMER'S DISEASE Alzheimer's & Dementia. 14: P1025-P1026. DOI: 10.1016/J.Jalz.2018.06.2801 |
0.351 |
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| 2006 |
Cruts M, Rademakers R, Sleegers K, Theuns J, Rijk PD, Pooter TD, Bossche DVD, Del-Favero J, Broeckhoven CV. P3-162: Increased variability of the tau gene MAPT due to genomic instability Alzheimers & Dementia. 2. DOI: 10.1016/J.Jalz.2006.05.1430 |
0.311 |
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| 2006 |
van der Zee J, Dermaut B, Rademakers R, Engelborghs S, Pirici D, Vandenberghe R, Santens P, Caekebeke J, Kumar-Singh S, Martin J, De Deyn PP, Cruts M, Van Broeckhoven C. P3-149: An ancestral haplotype harbors a highly prevalent mutation for 17q21-linked tau-negative FTLD in Belgium Alzheimer's & Dementia. 2: S418-S418. DOI: 10.1016/J.Jalz.2006.05.1417 |
0.413 |
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| 2005 |
Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Human Molecular Genetics. 14: 3281-92. PMID 16195395 DOI: 10.1093/Hmg/Ddi361 |
0.738 |
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| 2005 |
Rademakers R, Cruts M, Sleegers K, Dermaut B, Theuns J, Aulchenko Y, Weckx S, De Pooter T, Van den Broeck M, Corsmit E, De Rijk P, Del-Favero J, van Swieten J, van Duijn CM, Van Broeckhoven C. Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample. American Journal of Human Genetics. 77: 643-52. PMID 16175510 DOI: 10.1086/491749 |
0.309 |
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| 2005 |
Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C. Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Human Molecular Genetics. 14: 1753-62. PMID 15888485 DOI: 10.1093/Hmg/Ddi182 |
0.315 |
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| 2005 |
Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Human Mutation. 24: 277-95. PMID 15365985 DOI: 10.1002/humu.20086 |
0.422 |
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| 2004 |
Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Annals of Neurology. 55: 617-26. PMID 15122701 DOI: 10.1002/Ana.20083 |
0.41 |
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| 2004 |
Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Peeters K, Claes S, Cruts M, Martin J, De Deyn P, Van Broeckhoven C. O3-05-01 A novel presenilin 1 mutation (gly183val) is associated with pick's disease in the absence of β-amyloid plaques Neurobiology of Aging. 25: S61. DOI: 10.1016/S0197-4580(04)80206-9 |
0.384 |
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| 2003 |
Cruts M, Dermaut B, Rademakers R, Van den Broeck M, Stögbauer F, Van Broeckhoven C. Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family. Journal of Neurology. 250: 1374-5. PMID 14648157 DOI: 10.1007/S00415-003-0182-5 |
0.361 |
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| 2003 |
Rademakers R, Cruts M, Van Broeckhoven C. Genetics of early-onset Alzheimer dementia. Thescientificworldjournal. 3: 497-519. PMID 12847300 DOI: 10.1100/tsw.2003.39 |
0.328 |
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| 2000 |
Cruts M, Rademakers R, Broeck MVd, Duijn CMv, Broeckhoven CV. A genome-wide search for novel early-onset Alzheimer disease genes Neurobiology of Aging. 21: 128. DOI: 10.1016/S0197-4580(00)82376-3 |
0.343 |
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| 2000 |
Dermaut B, Roks G, Tol J, Rademakers R, Cruts M, Houwing-Duistermaat JJ, Broeckhoven CV, Duijn CMv. Association study between a promoter polymorphism in the presenilin 1 gene and late-onset Alzheimer's disease Neurobiology of Aging. 21: 177. DOI: 10.1016/S0197-4580(00)82133-8 |
0.375 |
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