ZEVIANI, MASSIMO

ZEVIANI, MASSIMO  

Dipartimento di Neuroscienze - DNS  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 2016 Angelini, CorradoPEGORARO, ELENAZeviani, Massimo + NEUROMUSCULAR DISORDERS - -
155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands 2008 Zeviani M. + NEUROMUSCULAR DISORDERS - -
[Metabolic myopathies] 1991 Zeviani, MRimoldi, M + MINERVA PEDIATRICA - -
[Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies] 1994 Zeviani, M + COMPTES RENDUS DES SEANCES DE LA SOCIETE DE BIOLOGIE ET DE SES FILIALES - -
A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation 2013 Zeviani M. + NEUROLOGICAL SCIENCES - -
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. 1989 RIZZUTO, ROSARIOZEVIANI M + SCIENCE - -
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers 1999 Martin M. A.Zeviani M. + NEUROLOGY - -
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): Evidence of mitochondrial dysfunction 2015 Ghezzi D.Zeviani M.Pinton P. + EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis 1991 Zeviani M. + NUCLEIC ACIDS RESEARCH - -
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly 2020 Fernandez-Vizarra, ErikaTrani, GiuliaZeviani, Massimo + NEUROBIOLOGY OF DISEASE - -
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly 2020 Trani G.Ghezzi D.Zeviani M.Bertini E. + NEUROBIOLOGY OF DISEASE - -
A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity 2013 Ghezzi D.Zeviani M. + HUMAN MUTATION - -
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene 1993 Zeviani M.Savarese N. + EUROPEAN JOURNAL OF HUMAN GENETICS - -
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome 2003 Zeviani M. + NEUROLOGY - -
A myopathy, lactic acidosis, sideroblastic anemia (MLASA) case due to a novel PUS1 mutation 2017 Zanetti N.Zeviani M. + TURKISH JOURNAL OF HAEMATOLOGY - -
A nonsense mutation in the NDUFS4 gene encoding the 18 kDA (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome 2001 Boffoli D.Zeviani M. + HUMAN MOLECULAR GENETICS - -
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy 2015 BEE, LEONARDOCENDRON, FILIPPOCOSTA, RODOLFOCELOTTI, LUCIAM. Zeviani + EMBO MOLECULAR MEDICINE - -
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 2017 Marchet S.Zeviani M.Ghezzi D. + JOURNAL OF MEDICAL GENETICS - -
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome 2000 Zeviani M. + HUMAN MOLECULAR GENETICS - -
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing 2012 Liu X.Zhang Q.Zeviani M.Zhang J.Ghezzi D. + MOLECULAR GENETICS AND METABOLISM - -