MARCHET, SILVIA

MARCHET, SILVIA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency 2014 Marchet S.Bertini E.Ghezzi D.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders 2015 Marchet SilviaDe Pittà CristianoDa Re CaterinaCorrà SamanthaZordan MauroCosta RodolfoZeviani MassimoGhezzi Daniele + - - Book of abstracts
Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models 2015 Varanita T.Marchet S.Viscomi C.Scorrano L.Zeviani M. + CELL METABOLISM - -
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene 2017 Marchet S.Mora M.Zeviani M. + MOLECULAR GENETICS AND METABOLISM REPORTS - -
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 2017 Marchet S.Zeviani M.Ghezzi D. + JOURNAL OF MEDICAL GENETICS - -
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations 2020 Marchet S.Venner K.Zeviani M. + NEUROLOGY. GENETICS - -