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Michio Hirano
Michio Hirano
Professor of Neurology
Dirección de correo verificada de columbia.edu
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Año
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 2016
13702016
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
I Nishino, J Fu, K Tanji, T Yamada, S Shimojo, T Koori, M Mora, JE Riggs, ...
Nature 406 (6798), 906-910, 2000
10622000
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
I Nishino, A Spinazzola, M Hirano
Science 283 (5402), 689-692, 1999
10381999
Human mitochondrial DNA: roles of inherited and somatic mutations
EA Schon, S DiMauro, M Hirano
Nature Reviews Genetics 13 (12), 878-890, 2012
8642012
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
LC Papadopoulou, CM Sue, MM Davidson, K Tanji, I Nishino, JE Sadlock, ...
Nature genetics 23 (3), 333-337, 1999
6781999
MELAS: clinical features, biochemistry, and molecular genetics
E Ciafaloni, E Ricci, S Shanske, CT Moraes, G Silvestri, M Hirano, ...
Annals of Neurology: Official Journal of the American Neurological …, 1992
6081992
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S Parikh, A Goldstein, MK Koenig, F Scaglia, GM Enns, R Saneto, ...
Genetics in Medicine 17 (9), 689-701, 2015
5532015
Topical review: mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts
M Hirano, SG Pavlakis
Journal of child neurology 9 (1), 4-13, 1994
5141994
MELAS: an original case and clinical criteria for diagnosis
M Hirano, E Ricci, MR Koenigsberger, R Defendini, SG Pavlakis, ...
Neuromuscular Disorders 2 (2), 125-135, 1992
4961992
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
M Hirano, G Silvestri, DM Blake, A Lombes, C Minetti, E Bonilla, AP Hays, ...
Neurology 44 (4), 721-721, 1994
4941994
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ...
The Lancet Neurology 10 (9), 806-818, 2011
4612011
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
LC López, M Schuelke, CM Quinzii, T Kanki, RJT Rodenburg, A Naini, ...
The American Journal of Human Genetics 79 (6), 1125-1129, 2006
4472006
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
P Kaufmann, K Engelstad, Y Wei, S Jhung, MC Sano, DC Shungu, ...
Neurology 66 (3), 324-330, 2006
4302006
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
C Quinzii, A Naini, L Salviati, E Trevisson, P Navas, S DiMauro, M Hirano
The American Journal of Human Genetics 78 (2), 345-349, 2006
3972006
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations
I Nishino, A Spinazzola, A Papadimitriou, S Hammans, I Steiner, CD Hahn, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
3912000
The clinical maze of mitochondrial neurology
S DiMauro, EA Schon, V Carelli, M Hirano
Nature Reviews Neurology 9 (8), 429-444, 2013
3902013
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
K Gempel, H Topaloglu, B Talim, P Schneiderat, BGH Schoser, VH Hans, ...
Brain 130 (8), 2037-2044, 2007
3642007
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
C Lagier-Tourenne, M Tazir, LC López, CM Quinzii, M Assoum, N Drouot, ...
The American Journal of Human Genetics 82 (3), 661-672, 2008
3502008
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage
C Perier, K Tieu, C Guégan, C Caspersen, V Jackson-Lewis, V Carelli, ...
Proceedings of the National Academy of Sciences 102 (52), 19126-19131, 2005
3502005
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
O Musumeci, A Naini, AE Slonim, N Skavin, GL Hadjigeorgiou, ...
Neurology 56 (7), 849-855, 2001
3172001
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