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Current classification of mitochondrial disorders.
Andreu AL, DiMauro S. Andreu AL, et al. J Neurol. 2003 Dec;250(12):1403-6. doi: 10.1007/s00415-003-0281-3. J Neurol. 2003. PMID: 14673571 Review. No abstract available.
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R. Gempel K, et al. Brain. 2007 Aug;130(Pt 8):2037-44. doi: 10.1093/brain/awm054. Epub 2007 Apr 5. Brain. 2007. PMID: 17412732 Free PMC article.
Cerebral lactic acidosis correlates with neurological impairment in MELAS.
Kaufmann P, Shungu DC, Sano MC, Jhung S, Engelstad K, Mitsis E, Mao X, Shanske S, Hirano M, DiMauro S, De Vivo DC. Kaufmann P, et al. Neurology. 2004 Apr 27;62(8):1297-302. doi: 10.1212/01.wnl.0000120557.83907.a8. Neurology. 2004. PMID: 15111665 Clinical Trial.
Coenzyme Q10 deficiency and isolated myopathy.
Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, Lochmüller H. Horvath R, et al. Neurology. 2006 Jan 24;66(2):253-5. doi: 10.1212/01.wnl.0000194241.35115.7c. Neurology. 2006. PMID: 16434667
Mitochondrial diseases.
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Gorman GS, et al. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Nat Rev Dis Primers. 2016. PMID: 27775730 Review.
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, Lucchini V, Colombo I, Villa L, Berardinelli A, Balottin U, Morandi L, Mora M, Bordoni A, Fortunato F, Corti S, Parisi D, Toscano A, Sciacco M, DiMauro S, Comi GP, Moggio M. Ripolone M, et al. JAMA Neurol. 2015 Jun;72(6):666-75. doi: 10.1001/jamaneurol.2015.0178. JAMA Neurol. 2015. PMID: 25844556 Free PMC article.
Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.
Paradas C, Camaño P, Otaegui D, Oz O, Emmanuele V, DiMauro S, Hirano M. Paradas C, et al. JAMA Neurol. 2013 Nov;70(11):1425-8. doi: 10.1001/jamaneurol.2013.3185. JAMA Neurol. 2013. PMID: 24018892 Free PMC article.
Mitochondrial DNA mutation load: chance or destiny?
DiMauro S. DiMauro S. JAMA Neurol. 2013 Dec;70(12):1484-5. doi: 10.1001/jamaneurol.2013.4401. JAMA Neurol. 2013. PMID: 24126438 Free PMC article. No abstract available.
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A. Nilsson J, et al. Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963. Ann Neurol. 2013. PMID: 23798481
Progressive cavitating leukoencephalopathy: a novel childhood disease.
Naidu S, Bibat G, Lin D, Burger P, Barker P, Rosemberg S, Braverman N, Arroyo H, Dowling M, Hamosh A, Kimonis V, Blank C, Fiumara A, Facchini S, Singhal B, Moser H, Kelley R, DiMauro S. Naidu S, et al. Ann Neurol. 2005 Dec;58(6):929-38. doi: 10.1002/ana.20671. Ann Neurol. 2005. PMID: 16315274
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