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Kurenai Tanji - Publications

Affiliations: 
Pathology Columbia University, New York, NY 
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97 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Carberry N, Yu S, Fayerman RN, Dugue R, Miller M, Tanji K, Goyal T, Canoll P, Brannagan TH. Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature. The Neurohospitalist. 13: 90-95. PMID 36531853 DOI: 10.1177/19418744221127849  0.417
2022 Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar IM, Leu CS, Marti R, Frank J, ... Tanji K, et al. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. The Journal of Clinical Investigation. PMID 35617047 DOI: 10.1172/JCI145660  0.311
2021 Thakur KT, Miller EH, Glendinning MD, Al-Dalahmah O, Banu MA, Boehme AK, Boubour AL, Bruce SS, Chong AM, Claassen J, Faust PL, Hargus G, Hickman RA, Jambawalikar S, Khandji AG, ... ... Tanji K, et al. COVID-19 neuropathology at Columbia University Irving Medical Center/New York Presbyterian Hospital. Brain : a Journal of Neurology. PMID 33856027 DOI: 10.1093/brain/awab148  0.373
2020 Kripps KA, Friederich MW, Chen T, Larson AA, Mirsky DM, Wang Y, Tanji K, Knight KM, Wong LJ, Van Hove JLK. A novel acceptor stem variant in mitochondrial tRNA impairs mitochondrial translation and is associated with a severe phenotype. Molecular Genetics and Metabolism. PMID 33279411 DOI: 10.1016/j.ymgme.2020.11.006  0.355
2020 Franco-Iborra S, Tanji K. Histochemical and immunohistochemical staining methods to visualize mitochondrial proteins and activity. Methods in Cell Biology. 155: 247-270. PMID 32183961 DOI: 10.1016/Bs.Mcb.2019.11.024  0.389
2019 Shakri AR, Zhong TJ, Ma W, Coker C, Kim S, Calluori S, Scholze H, Szabolcs M, Caffrey T, Grandgenett PM, Hollingsworth MA, Tanji K, Kluger MD, Miller G, Biswas AK, et al. Upregulation of ZIP14 and Altered Zinc Homeostasis in Muscles in Pancreatic Cancer Cachexia. Cancers. 12. PMID 31861290 DOI: 10.3390/Cancers12010003  0.326
2019 Berardo A, Emmanuele V, Vargas W, Tanji K, Naini A, Hirano M. Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6. Journal of Neurology. PMID 31776719 DOI: 10.1007/S00415-019-09619-Z  0.415
2019 Lopez-Gomez C, Hewan H, Sierra C, Akman HO, Sanchez-Quintero MJ, Juanola-Falgarona M, Tadesse S, Tanji K, Konofagou EE, Hirano M. Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency. Ebiomedicine. PMID 31383553 DOI: 10.1016/J.Ebiom.2019.07.037  0.415
2019 Wang Y, Shin JY, Nakanishi K, Homma S, Kim GJ, Tanji K, Joseph LC, Morrow JP, Stewart CL, Dauer WT, Worman HJ. Postnatal Development of Mice with Combined Genetic Depletions of Lamin A/C, Emerin and Lamina-associated Polypeptide 1. Human Molecular Genetics. PMID 31009944 DOI: 10.1093/Hmg/Ddz082  0.322
2019 Zanazzi G, Arshad M, Maurer MS, Brannagan TH, Tanji K. Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis. Journal of Clinical Neuromuscular Disease. 20: 120-128. PMID 30801482 DOI: 10.1097/Cnd.0000000000000242  0.329
2019 Kubota A, Juanola-Falgarona M, Emmanuele V, Sanchez-Quintero MJ, Kariya S, Sera F, Homma S, Tanji K, Quinzii CM, Hirano M. Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice. Human Molecular Genetics. 28: 209-219. PMID 30260394 DOI: 10.1093/Hmg/Ddy299  0.337
2018 Siegmund SE, Grassucci R, Carter SD, Barca E, Farino ZJ, Juanola-Falgarona M, Zhang P, Tanji K, Hirano M, Schon EA, Frank J, Freyberg Z. Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography. Iscience. 6: 83-91. PMID 30240627 DOI: 10.1016/J.Isci.2018.07.014  0.456
2018 Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick E, et al. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Human Molecular Genetics. PMID 29917077 DOI: 10.1093/Hmg/Ddy231  0.435
2018 Area-Gomez E, de Groof A, Bonilla E, Montesinos J, Tanji K, Boldogh I, Pon L, Schon EA. A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease. Cell Death & Disease. 9: 335. PMID 29491396 DOI: 10.1038/S41419-017-0215-0  0.382
2018 Biswas A, Wang G, Ma W, Coker C, Tanji K, Kandpal M, Davuluri R, Acharyya S. Abstract 5732: Zinc transporter, ZIP14, as a mediator of systemic muscle wasting in metastatic cancers Immunology. 78: 5732-5732. DOI: 10.1158/1538-7445.Am2018-5732  0.319
2017 Dardis C, Antezana A, Tanji K, Maccabee PJ. Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause. American Journal of Case Reports. 18: 700-706. PMID 28642454 DOI: 10.12659/Ajcr.903566  0.31
2016 Shin JY, Méndez-López I, Hong M, Wang Y, Tanji K, Wu W, Shugol L, Krauss RS, Dauer WT, Worman HJ. Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth. Human Molecular Genetics. PMID 27798115 DOI: 10.1093/Hmg/Ddw368  0.369
2015 Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, ... ... Tanji K, et al. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Orphanet Journal of Rare Diseases. 10: 135. PMID 26471370 DOI: 10.1186/S13023-015-0352-4  0.333
2015 Marra JD, Engelstad KE, Ankala A, Tanji K, Dastgir J, De Vivo DC, Coffee B, Chiriboga CA. Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish. Muscle & Nerve. 51: 767-72. PMID 25430424 DOI: 10.1002/Mus.24528  0.411
2015 Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M. Fhl1 W122S causes loss of protein function and late-onset mild myopathy. Human Molecular Genetics. 24: 714-26. PMID 25274776 DOI: 10.1093/Hmg/Ddu490  0.408
2015 Hissong E, Salvatore S, Tanji K, Lavi E. Congenital muscular dystrophy, cardiomyopathy, and peripheral neuropathy due to merosin deficiency: Peripheral nerve histology of cauda equina Human Pathology: Case Reports. DOI: 10.1016/J.Ehpc.2015.06.003  0.339
2014 Garone C, Garcia-Diaz B, Emmanuele V, Lopez LC, Tadesse S, Akman HO, Tanji K, Quinzii CM, Hirano M. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. Embo Molecular Medicine. 6: 1016-27. PMID 24968719 DOI: 10.15252/Emmm.201404092  0.351
2014 Garcia-Diaz B, Garone C, Barca E, Mojahed H, Gutierrez P, Pizzorno G, Tanji K, Arias-Mendoza F, Quinzii CM, Hirano M. Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy. Brain : a Journal of Neurology. 137: 1337-49. PMID 24727567 DOI: 10.1093/Brain/Awu068  0.464
2014 Peverelli L, Gold CA, Naini AB, Tanji K, Akman HO, Hirano M, Dimauro S. Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene. Muscle & Nerve. 50: 292-5. PMID 24711008 DOI: 10.1002/Mus.24262  0.453
2013 Shin JY, Méndez-López I, Wang Y, Hays AP, Tanji K, Lefkowitch JH, Schulze PC, Worman HJ, Dauer WT. Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. Developmental Cell. 26: 591-603. PMID 24055652 DOI: 10.1016/J.Devcel.2013.08.012  0.357
2013 Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain : a Journal of Neurology. 136: 1508-17. PMID 23543484 DOI: 10.1093/Brain/Awt074  0.375
2013 Tang G, Gutierrez Rios P, Kuo SH, Akman HO, Rosoklija G, Tanji K, Dwork A, Schon EA, Dimauro S, Goldman J, Sulzer D. Mitochondrial abnormalities in temporal lobe of autistic brain. Neurobiology of Disease. 54: 349-61. PMID 23333625 DOI: 10.1016/J.Nbd.2013.01.006  0.401
2013 Garone C, Garcia-Diaz B, Emmanuele V, Tadesse S, Akman HO, Tanji K, Quinzii CM, Hirano M. P17.19 Deoxypyrimidine monophosphates treatment for thymidine kinase 2 deficiency Neuromuscular Disorders. 23: 832. DOI: 10.1016/J.Nmd.2013.06.669  0.383
2013 Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Tanji K, Quinzii CM, Hirano M. P.5.19 Fhl1 W122S knock-in mice manifest late-onset mild myopathy Neuromuscular Disorders. 23: 769-770. DOI: 10.1016/J.Nmd.2013.06.471  0.412
2013 Kubota A, Melia MJ, Ortolano S, Vilchez JJ, Gamez J, Tanji K, Bonilla E, Palenzuela L, Fernandez-Cadenas I, Pristoupilova A, Garcia-Arumi E, Andreu AL, Navarro C, Marti R, Hirano M. P.5.12 A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology Neuromuscular Disorders. 23: 767. DOI: 10.1016/J.Nmd.2013.06.464  0.404
2012 Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Archives of Neurology. 69: 1648-51. PMID 22964873 DOI: 10.1001/Archneurol.2012.405  0.491
2012 Gutiérrez Ríos P, Kalra AA, Wilson JD, Tanji K, Akman HO, Area Gómez E, Schon EA, DiMauro S. Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. Archives of Neurology. 69: 657-61. PMID 22782513 DOI: 10.1001/Archneurol.2011.2333  0.487
2012 DiMauro S, Tanji K, Schon EA. The many clinical faces of cytochrome c oxidase deficiency. Advances in Experimental Medicine and Biology. 748: 341-57. PMID 22729865 DOI: 10.1007/978-1-4614-3573-0_14  0.46
2012 Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ. Loss of myelin-associated glycoprotein in kearns-sayre syndrome. Archives of Neurology. 69: 490-9. PMID 22491194 DOI: 10.1001/Archneurol.2011.2167  0.306
2012 Emmanuele V, Garcia-Cazorla A, Huang HB, Coku J, Dorado B, Cortes EP, Engelstad K, De Vivo DC, Dimauro S, Bonilla E, Tanji K. Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS. Journal of the Neurological Sciences. 317: 29-34. PMID 22483853 DOI: 10.1016/J.Jns.2012.03.005  0.328
2012 Tanji K. Morphological assessment of mitochondrial respiratory chain function on tissue sections. Methods in Molecular Biology (Clifton, N.J.). 837: 181-94. PMID 22215548 DOI: 10.1007/978-1-61779-504-6_12  0.391
2012 Garone C, Rubio JC, Calvo S, Naini A, Tanji K, DiMauro S, Mootha V, Hirano M. New MPV17 Mutations Associated with Multiple Deletions in Skeletal Muscle (S55.002) Neurology. 78: S55.002-S55.002. DOI: 10.1212/Wnl.78.1_Meetingabstracts.S55.002  0.394
2012 Rios PG, Kalra AA, Wilson J, Tanji K, Akman H, Area E, Schon E, DiMauro S. Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase beta (CHKB) Gene (P01.116) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P01.116  0.478
2012 Emmanuele V, Silvers D, Sotiriou E, Tanji K, DiMauro S, Hirano M. MERRF and Kearns-Sayre Overlap Syndrome Due to the Mitochondrial DNA M.3291T>C Mutation (P07.209) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In7-1.008  0.503
2011 Emmanuele V, Silvers DS, Sotiriou E, Tanji K, DiMauro S, Hirano M. MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation. Muscle & Nerve. 44: 448-51. PMID 21996807 DOI: 10.1002/Mus.22149  0.42
2011 Emmanuele V, Sotiriou E, Shirazi M, Tanji K, Haller RG, Heinicke K, Bosch PE, Hirano M, DiMauro S. Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation. Journal of the Neurological Sciences. 303: 39-42. PMID 21324494 DOI: 10.1016/J.Jns.2011.01.018  0.472
2010 Brosel S, Yang H, Tanji K, Bonilla E, Schon EA. Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease. The American Journal of Pathology. 177: 2541-8. PMID 20864674 DOI: 10.2353/Ajpath.2010.100229  0.414
2010 Akman HO, Davidzon G, Tanji K, Macdermott EJ, Larsen L, Davidson MM, Haller RG, Szczepaniak LS, Lehman TJ, Hirano M, DiMauro S. Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscular Disorders : Nmd. 20: 397-402. PMID 20471263 DOI: 10.1016/J.Nmd.2010.04.004  0.353
2010 Coku J, Shanske S, Mehrazin M, Tanji K, Naini A, Emmanuele V, Patterson M, Hirano M, DiMauro S. Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene. Journal of the Neurological Sciences. 290: 166-8. PMID 20022607 DOI: 10.1016/J.Jns.2009.12.001  0.452
2009 Sotiriou E, Coku J, Tanji K, Huang HB, Hirano M, DiMauro S. The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia. Neuromuscular Disorders : Nmd. 19: 297-9. PMID 19285865 DOI: 10.1016/J.Nmd.2009.01.014  0.437
2009 López LC, Akman HO, García-Cazorla A, Dorado B, Martí R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Human Molecular Genetics. 18: 714-22. PMID 19028666 DOI: 10.1093/Hmg/Ddn401  0.404
2008 Tanji K, Bonilla E. Light microscopic methods to visualize mitochondria on tissue sections. Methods (San Diego, Calif.). 46: 274-80. PMID 18929660 DOI: 10.1016/J.Ymeth.2008.09.027  0.375
2008 Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscular Disorders : Nmd. 18: 453-9. PMID 18504129 DOI: 10.1016/J.Nmd.2008.04.006  0.494
2008 Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Human Molecular Genetics. 17: 2433-40. PMID 18467430 DOI: 10.1093/Hmg/Ddn143  0.443
2008 Hirano M, Angelini C, Montagna P, Hays AP, Tanji K, Mitsumoto H, Gordon PH, Naini AB, DiMauro S, Rowland LP. Amyotrophic lateral sclerosis with ragged-red fibers. Archives of Neurology. 65: 403-6. PMID 18332255 DOI: 10.1001/Archneurol.2007.65  0.425
2008 Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S. The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Archives of Neurology. 65: 368-72. PMID 18332249 DOI: 10.1001/Archneurol.2007.67  0.495
2008 Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP. A novel tRNA(Val) mitochondrial DNA mutation causing MELAS. Journal of the Neurological Sciences. 270: 23-7. PMID 18314141 DOI: 10.1016/J.Jns.2008.01.016  0.463
2008 Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. American Journal of Human Genetics. 82: 208-13. PMID 18179901 DOI: 10.1016/J.Ajhg.2007.09.013  0.398
2007 Tanji K, Bonilla E. Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria. Methods in Cell Biology. 80: 135-54. PMID 17445692 DOI: 10.1016/S0091-679X(06)80006-3  0.403
2007 Chae JH, Lee JS, Kim KJ, Hwang YS, Bonilla E, Tanji K, Hirano M. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Pediatric Research. 61: 622-4. PMID 17413873 DOI: 10.1203/Pdr.0B013E3180459F2D  0.449
2006 Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. American Journal of Human Genetics. 79: 544-8. PMID 16909392 DOI: 10.1086/506913  0.44
2004 Akman CI, Sue CM, Shanske S, Tanji K, Bonilla E, Ojaimi J, Krishna S, Schubert R, DiMauro S. Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy. Journal of Child Neurology. 19: 258-61. PMID 15163090 DOI: 10.1177/088307380401900403  0.352
2004 Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscular Disorders : Nmd. 14: 253-60. PMID 15019703 DOI: 10.1016/J.Nmd.2003.12.006  0.393
2003 Tanji K, Bhagat G, Vu TH, Monzon L, Bonilla E, Lefkowitch JH. Mitochondrial DNA dysfunction in oncocytic hepatocytes. Liver International : Official Journal of the International Association For the Study of the Liver. 23: 397-403. PMID 14708902 DOI: 10.1034/J.1478-3231.2003.00864.X  0.387
2003 Tanji K, Gamez J, Cervera C, Mearin F, Ortega A, de la Torre J, Montoya J, Andreu AL, DiMauro S, Bonilla E. The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction. Acta Neuropathologica. 105: 69-75. PMID 12471464 DOI: 10.1007/S00401-002-0604-Y  0.472
2002 DiMauro S, Tanji K, Bonilla E, Pallotti F, Schon EA. Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects. Muscle & Nerve. 26: 597-607. PMID 12402281 DOI: 10.1002/Mus.10194  0.437
2002 Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. American Journal of Human Genetics. 71: 679-83. PMID 12152148 DOI: 10.1086/342482  0.455
2001 Tanji K, Kunimatsu T, Vu TH, Bonilla E. Neuropathological features of mitochondrial disorders. Seminars in Cell & Developmental Biology. 12: 429-39. PMID 11735377 DOI: 10.1006/Scdb.2001.0280  0.402
2001 Karadimas C, Tanji K, Geremek M, Chronopoulou P, Vu T, Krishna S, Sue CM, Shanske S, Bonilla E, DiMauro S, Lipson M, Bachman R. A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy. Journal of Child Neurology. 16: 531-3. PMID 11453453 DOI: 10.1177/088307380101600715  0.471
2001 Vu TH, Hays AP, Tanji K, Younger D, Gundersen GG, Eastwood A, Braun CW, DiMauro S, Bonilla E. Myopathy with tubulin-reactive crystalline inclusions. Neurology. 57: 149-52. PMID 11445649 DOI: 10.1212/Wnl.57.1.149  0.304
2001 Vu TH, Tanji K, Holve SA, Bonilla E, Sokol RJ, Snyder RD, Fiore S, Deutsch GH, Dimauro S, De Vivo D. Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? Hepatology (Baltimore, Md.). 34: 116-20. PMID 11431741 DOI: 10.1053/Jhep.2001.25921  0.406
2000 Tanji K, Schon EA, DiMauro S, Bonilla E. Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium. Journal of the Neurological Sciences. 178: 29-36. PMID 11018246 DOI: 10.1016/S0022-510X(00)00354-3  0.426
2000 Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Neurology. 55: 644-9. PMID 10980727 DOI: 10.1212/Wnl.55.5.644  0.488
2000 Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 406: 906-10. PMID 10972294 DOI: 10.1038/35022604  0.392
2000 Tanji K, Bonilla E. Neuropathologic aspects of cytochrome C oxidase deficiency. Brain Pathology (Zurich, Switzerland). 10: 422-30. PMID 10885661 DOI: 10.1111/J.1750-3639.2000.Tb00274.X  0.467
2000 Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Annals of Neurology. 47: 589-95. PMID 10805329 DOI: 10.1002/1531-8249(200005)47:5<589::Aid-Ana6>3.0.Co;2-D  0.409
2000 Vu TH, Tanji K, Pallotti F, Golzi V, Hirano M, DiMauro S, Bonilla E. Analysis of mtDNA deletions in muscle by in situ hybridization. Muscle & Nerve. 23: 80-5. PMID 10590409 DOI: 10.1002/(Sici)1097-4598(200001)23:1<80::Aid-Mus10>3.0.Co;2-V  0.455
1999 Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nature Genetics. 23: 333-7. PMID 10545952 DOI: 10.1038/15513  0.365
1999 Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. The New England Journal of Medicine. 341: 1037-44. PMID 10502593 DOI: 10.1056/Nejm199909303411404  0.459
1999 Tanji K, DiMauro S, Bonilla E. Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. Journal of the Neurological Sciences. 166: 64-70. PMID 10465502 DOI: 10.1016/S0022-510X(99)00114-8  0.32
1999 Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology. 52: 1905-8. PMID 10371545 DOI: 10.1212/Wnl.52.9.1905  0.42
1999 Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Annals of Neurology. 45: 820-3. PMID 10360780 DOI: 10.1002/1531-8249(199906)45:6<820::Aid-Ana22>3.0.Co;2-W  0.465
1999 Bonilla E, Tanji K, Hirano M, Vu TH, DiMauro S, Schon EA. Mitochondrial involvement in Alzheimer's disease. Biochimica Et Biophysica Acta. 1410: 171-82. PMID 10076025 DOI: 10.1016/S0005-2728(98)00165-0  0.415
1999 Tanji K, Vu TH, Schon EA, DiMauro S, Bonilla E. Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. Annals of Neurology. 45: 377-83. PMID 10072053 DOI: 10.1002/1531-8249(199903)45:3<377::Aid-Ana14>3.0.Co;2-M  0.41
1999 Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S, Hadjigeorgiou GM, Shtilbans A, Bonilla E, DiMauro S. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Annals of Neurology. 45: 127-30. PMID 9894887 DOI: 10.1002/1531-8249(199901)45:1<127::Aid-Art20>3.0.Co;2-Y  0.413
1998 Santorelli FM, Tanji K, Shanske S, Krishna S, Schmidt RE, Greenwood RS, DiMauro S, De Vivo DC. The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past. Annals of Neurology. 44: 962-4. PMID 9851442 DOI: 10.1002/Ana.410440616  0.424
1998 Vu TH, Tanji K, Valsamis H, DiMauro S, Bonilla E. Mitochondrial DNA depletion in a patient with long survival. Neurology. 51: 1190-3. PMID 9781557 DOI: 10.1212/Wnl.51.4.1190  0.44
1998 Sciacco M, Gasparo-Rippa P, Vu TH, Tanji K, Shanske S, Mendell JR, Schon EA, DiMauro S, Bonilla E. Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction. Muscle & Nerve. 21: 1374-81. PMID 9771659 DOI: 10.1002/(Sici)1097-4598(199811)21:11<1374::Aid-Mus3>3.0.Co;2-6  0.374
1998 Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC. Clinical manifestations of mitochondrial DNA depletion. Neurology. 50: 1783-90. PMID 9633728 DOI: 10.1212/Wnl.50.6.1783  0.471
1998 Bonilla E, Tanji K. Ultrastructural alterations in encephalomyopathies of mitochondrial origin. Biofactors (Oxford, England). 7: 231-6. PMID 9568255 DOI: 10.1002/Biof.5520070315  0.394
1997 Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochemical and Biophysical Research Communications. 238: 326-8. PMID 9299505 DOI: 10.1006/Bbrc.1997.7167  0.486
1997 Santorelli FM, Tanji K, Sano M, Shanske S, El-Shahawi M, Kranz-Eble P, DiMauro S, De Vivo DC. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. Annals of Neurology. 42: 256-60. PMID 9266739 DOI: 10.1002/Ana.410420220  0.431
1997 Santorelli FM, Tanji K, Shanske S, DiMauro S. Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. Neurology. 49: 270-3. PMID 9222207 DOI: 10.1212/Wnl.49.1.270  0.454
1996 Santorelli FM, Sciacco M, Tanji K, Shanske S, Vu TH, Golzi V, Griggs RC, Mendell JR, Hays AP, Bertorini TE, Pestronk A, Bonilla E, DiMauro S. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Annals of Neurology. 39: 789-95. PMID 8651651 DOI: 10.1002/Ana.410390615  0.426
1996 Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology. 46: 1329-34. PMID 8628476 DOI: 10.1212/Wnl.46.5.1329  0.472
1994 Tanji K, Sancho S, Miranda AF. Innervation of MyoD-converted human amniocytes and fibroblasts by fetal rodent spinal cord neurons. Neuromuscular Disorders : Nmd. 4: 317-24. PMID 7981588 DOI: 10.1016/0960-8966(94)90067-1  0.341
1993 Shanske AL, Shanske S, Silvestri G, Tanji K, Wertheim D, Lipper S. MELAS point mutation with unusual clinical presentation. Neuromuscular Disorders : Nmd. 3: 191-3. PMID 8400859 DOI: 10.1016/0960-8966(93)90058-R  0.364
1993 Minetti C, Tanji K, Chang HW, Medori R, Cordone G, DiMauro S, Bonilla E. Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. European Journal of Pediatrics. 152: 848-51. PMID 8223790 DOI: 10.1007/Bf02073385  0.376
1993 Sparaco M, Rosoklija G, Tanji K, Sciacco M, Latov N, DiMauro S, Bonilla E. Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies. Neuromuscular Disorders : Nmd. 3: 71-6. PMID 8101114 DOI: 10.1016/0960-8966(93)90044-K  0.346
1992 Minetti C, Tanji K, Bonilla E. Immunologic study of vinculin in Duchenne muscular dystrophy. Neurology. 42: 1751-4. PMID 1513465 DOI: 10.1212/Wnl.42.9.1751  0.364
1992 Sancho S, Moraes CT, Tanji K, Miranda AF. Structural and functional mitochondrial abnormalities associated with high levels of partially deleted mitochondrial DNAs in somatic cell hybrids. Somatic Cell and Molecular Genetics. 18: 431-42. PMID 1362009 DOI: 10.1007/Bf01233083  0.423
1992 Bonilla E, Sciacco M, Tanji K, Sparaco M, Petruzzella V, Moraes CT. New morphological approaches to the study of mitochondrial encephalomyopathies. Brain Pathology (Zurich, Switzerland). 2: 113-9. PMID 1341952 DOI: 10.1111/J.1750-3639.1992.Tb00679.X  0.394
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