Articles with public access mandates - Michio HiranoLearn more
Not available anywhere: 7
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 2016
Mandates: National Health and Medical Research Council, Australia, Academy of Finland …
A novel tRNAVal mitochondrial DNA mutation causing MELAS
K Tanji, P Kaufmann, AB Naini, J Lu, TC Parsons, D Wang, JZ Willey, ...
Journal of the neurological sciences 270 (1-2), 23-27, 2008
Mandates: US National Institutes of Health
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family
J Gurgel-Giannetti, ST Camargos, F Cardoso, M Hirano, S DiMauro
Muscle & nerve 45 (3), 453, 2012
Mandates: US National Institutes of Health
Mitochondrial myopathies
M Hirano, V Emmanuele, CM Quinzii
Neuromuscular Disorders, 42-50, 2011
Mandates: US National Institutes of Health
Mitochondrial myopathies
S DiMauro, I Nishino, M Hirano
Neuromuscular Disorders in Clinical Practice, 1335-1353, 2014
Mandates: US National Institutes of Health
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: proposal of a clinical algorithm
V Zimmer, M Hirano, A Zimmer, F Lammert
Digestive and Liver Disease 46 (7), 664-665, 2014
Mandates: US National Institutes of Health, Government of Spain
Therapies Approaches in Mitochondrial Diseases
V Emmanuele, CM Quinzii, M Hirano
Mitochondrial Diseases: Theory, Diagnosis and Therapy, 273-305, 2021
Mandates: US National Institutes of Health
Available somewhere: 173
Human mitochondrial DNA: roles of inherited and somatic mutations
EA Schon, S DiMauro, M Hirano
Nature Reviews Genetics 13 (12), 878-890, 2012
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: German Research Foundation
The clinical maze of mitochondrial neurology
S DiMauro, EA Schon, V Carelli, M Hirano
Nature Reviews Neurology 9 (8), 429-444, 2013
Mandates: US National Institutes of Health
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
Mandates: German Research Foundation
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
Mandates: National Institute of Health and Medical Research, France
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants
D Paull, V Emmanuele, KA Weiss, N Treff, L Stewart, H Hua, M Zimmer, ...
Nature 493 (7434), 632-637, 2013
Mandates: US National Institutes of Health
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease
AJ Duncan, M Bitner-Glindzicz, B Meunier, H Costello, IP Hargreaves, ...
The American Journal of Human Genetics 84 (5), 558-566, 2009
Mandates: US National Institutes of Health
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review
V Emmanuele, LC López, A Berardo, A Naini, S Tadesse, B Wen, ...
Archives of neurology 69 (8), 978-983, 2012
Mandates: US National Institutes of Health
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
C Garone, S Tadesse, M Hirano
Brain 134 (11), 3326-3332, 2011
Mandates: US National Institutes of Health
Coenzyme Q and mitochondrial disease
CM Quinzii, M Hirano
Developmental disabilities research reviews 16 (2), 183-188, 2010
Mandates: US National Institutes of Health
A diagnostic algorithm for metabolic myopathies
A Berardo, S DiMauro, M Hirano
Current neurology and neuroscience reports 10, 118-126, 2010
Mandates: US National Institutes of Health
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