GHEZZI, DANIELE

GHEZZI, DANIELE  

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Risultati 1 - 20 di 43 (tempo di esecuzione: 0.103 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): Evidence of mitochondrial dysfunction 2015 Ghezzi D.Zeviani M.Pinton P. + EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
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 novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 2017 Marchet S.Zeviani M.Ghezzi D. + JOURNAL OF MEDICAL 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 - -
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 - -
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 - -
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations 2014 Zeviani M.Ghezzi D. + FRONTIERS IN GENETICS - -
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease 2017 Zeviani M.Ghezzi D. + NEUROLOGY. GENETICS - -
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency 2016 Ghezzi D.Zeviani M. + JOURNAL OF MEDICAL 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 - -
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor 2012 Ghezzi D.Zeviani M. + 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 - -
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 - -
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease 2006 Ghezzi D.Elia A.Barone P.Zeviani M. + MOVEMENT DISORDERS - -
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations 2004 Ghezzi D.Zeviani M. + JOURNAL OF INHERITED METABOLIC DISEASE - -
Infantile mitochondrial encephalopathy 2011 Ghezzi D.Zeviani M. + SEMINARS IN FETAL & NEONATAL MEDICINE - -
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations 2012 Ghezzi D.Bertini E.Zeviani M. + BRAIN - -
Loss of apoptosis-inducing factor critically affects MIA40 function 2015 Meyer K.Ghezzi D.Zeviani M.Bano D. + CELL DEATH & DISEASE - -
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I 2012 Ghezzi D.Rizzi R.Zeviani M. + NEUROMUSCULAR DISORDERS - -