BERTINI, ELENA SOFIA

BERTINI, ELENA SOFIA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region 1989 Zeviani M.Bertini E. + NATURE - -
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies 1991 Zeviani M.Ricci E.Bertini E.Di Mauro S. + NEUROLOGY - -
Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients 1996 Bertini E.Zeviani M. + JOURNAL OF INHERITED METABOLIC DISEASE - -
A novel insertion mutation (A(169i)) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient 1998 Bertini E.Zeviani M. + BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS - -
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene 1998 Zeviani M.Bertini E. + JOURNAL OF INHERITED METABOLIC DISEASE - -
Mutations of SURF-1 in Leigh disease associated with cytochrome C oxidase deficiency 1998 Bertini E.Franco B.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies 2010 Di Rocco M.Sartori S.Emma F.Laverda A. M.Pavone L.Simonati A.Bertini E. + NEUROLOGY - -
P-9Construction of a database for a nation-wideItalian collaborative network of mitochondrial diseases 2011 Angelini CAngelini CBertini EToscano AAngelini CBertini EAngelini CToscano AAngelini C + ACTA MYOLOGICA - -
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations 2012 Ghezzi D.Bertini E.Zeviani M. + BRAIN - -
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy 2013 Garavaglia B.Sartori S.Suppiej A.Bertini E.Simonati A. + ORPHANET JOURNAL OF RARE DISEASES - -
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 - -
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy 2014 Ghezzi D.Zeviani M.Bertini E. S. + AMERICAN JOURNAL OF HUMAN GENETICS - -
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 2015 Bertini E.Zeviani M.Ghezzi D. + AMERICAN JOURNAL OF HUMAN GENETICS - -
Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB 2016 Ghezzi D.Bertini E.Zeviani M.Singh A. + CELL METABOLISM - -
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation 2017 Zeviani M.Francisci S.Bertini E. + BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - -
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy 2017 Bertini E.Siciliano G.Zeviani M. + NEUROMUSCULAR DISORDERS - -
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations 2017 Doimo M.Calderan C.Aiello C.Bertini E.Salviati L. + ORPHANET JOURNAL OF RARE DISEASES - -
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 2018 Carecchio M.Granata T.CEREDA, CINZIAValente M. L.Fusco C.BERTINI, ELENA SOFIA + ORPHANET JOURNAL OF RARE DISEASES - -
The MYB5-driven MBW complex recruits a WRKY factor to enhance the expression of targets involved in vacuolar hyper-acidification and trafficking in grapevine 2019 Amato A.Cavallini E.Pezzotti M.Ruperti B.Bertini E.Zenoni S. + PLANT JOURNAL - -
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 - -