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Mostrati risultati da 1 a 20 di 42
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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 - -
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 2020 Tagliavini F.Carbonelli M.Maresca A.Zeviani M.Ghezzi D. + ANNALS OF NEUROLOGY - -
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria 2019 Martorano, LauraPeron, MargheritaLAQUATRA, CLAUDIOLIDRON, ELISAFacchinello, NicolaMeneghetti, GiacomoTiso, NatasciaRasola, AndreaGhezzi, DanieleArgenton, Francesco DISEASE MODELS & MECHANISMS - -
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations 2018 Toldo, IreneNosadini, MargheritaBOSCARDIN, CHIARATalenti, GiacomoManara, RenzoGHEZZI, DANIELEPerilongo, GiorgioSartori, Stefano + METABOLIC BRAIN DISEASE - -
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease 2017 Zeviani M.Ghezzi D. + NEUROLOGY. GENETICS - -
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 2017 Armaroli A.Hajnoczky G.Zeviani M.Ghezzi D. + HUMAN MUTATION - -
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 2017 Marchet S.Zeviani M.Ghezzi D. + JOURNAL OF MEDICAL GENETICS - -
MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders towards potential therapeutic approaches in experimental models 2017 Martorano LauraCorrà SamanthaBrischigliaro MicheleDe Pittà CristianoArgenton FrancescoCosta RodolfoGhezzi Daniele + - - Book of abstracts
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency 2016 Ghezzi D.Zeviani M. + JOURNAL OF MEDICAL GENETICS - -
Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB 2016 Ghezzi D.Bertini E.Zeviani M.Singh A. + CELL METABOLISM - -
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies 2016 Ghezzi D.Zeviani M. + BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - -
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): Evidence of mitochondrial dysfunction 2015 Ghezzi D.Zeviani M.Pinton P. + EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
Loss of apoptosis-inducing factor critically affects MIA40 function 2015 Meyer K.Ghezzi D.Zeviani M.Bano D. + CELL DEATH & DISEASE - -
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 - -
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
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy 2015 Zhang J.Ronchi D.Ghezzi D.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
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 - -
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 2014 Granata T.Zeviani M.Ghezzi D. + HUMAN MUTATION - -
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells 2014 Pisano A.Ghezzi D.Francisci S.Zeviani M.d'Amati G. + EMBO MOLECULAR MEDICINE - -
Mostrati risultati da 1 a 20 di 42
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