D'ADAMO, PIERVINCENZO

D'ADAMO, PIERVINCENZO  

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Risultati 1 - 9 di 9 (tempo di esecuzione: 0.017 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein 2004 D'Adamo P.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion 2006 Viscomi C.D'ADAMO, PIERVINCENZOZeviani M. + NATURE GENETICS - -
FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency 2008 Ghezzi D.D'Adamo P.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population 2008 D'Adamo P.Zeviani M. + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase 2008 D'Adamo P.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy 2009 Ghezzi D.D'Adamo P.Zeviani M. + NATURE GENETICS - -
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor 2010 Ghezzi D.Mora M.D'Adamo P.Novara F.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant 2013 Liu X.Ceccherini I.D'Adamo P.Zhang J.Ghezzi D.Zeviani M. + ORPHANET JOURNAL OF RARE DISEASES - -
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy 2014 Giordano L.Maresca A.Pisano A.Roberti M.Fracasso F.D'adamo P.Zeviani M.De Negri A.D'amati G. + BRAIN - -