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| 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 | 1101 | 2000 |
| Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder I Nishino, A Spinazzola, M Hirano Science 283 (5402), 689-692, 1999 | 1049 | 1999 |
| Human mitochondrial DNA: roles of inherited and somatic mutations EA Schon, S DiMauro, M Hirano Nature Reviews Genetics 13 (12), 878-890, 2012 | 907 | 2012 |
| 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 | 694 | 1999 |
| 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 | 620 | 1992 |
| 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 | 616 | 2015 |
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| 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 | 491 | 2011 |
| 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 | 455 | 2006 |
| 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 | 435 | 2006 |
| The clinical maze of mitochondrial neurology S DiMauro, EA Schon, V Carelli, M Hirano Nature Reviews Neurology 9 (8), 429-444, 2013 | 413 | 2013 |
| 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 | 402 | 2006 |
| 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 | 400 | 2000 |
| 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 | 372 | 2007 |
| 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 | 360 | 2005 |
| 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 | 354 | 2008 |
| Novel cell lines derived from adult human ventricular cardiomyocytes MM Davidson, C Nesti, L Palenzuela, WF Walker, E Hernandez, L Protas, ... Journal of molecular and cellular cardiology 39 (1), 133-147, 2005 | 339 | 2005 |
