GHEZZI, DANIELE

GHEZZI, DANIELE  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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 - -
Mitochondrial DNA haplogroup K is associated with a lower risk of parkinson's disease in Italians 2005 Ghezzi D.Barone P.Torroni A.Zeviani M. + EUROPEAN 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 - -
POLG1 in idiopathic Parkinson disease 2006 Ghezzi D.Zeviani M. + NEUROLOGY - -
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 - -
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy 2009 Ghezzi D.D'Adamo P.Zeviani M. + NATURE GENETICS - -
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence 2009 Ghezzi D.Viscomi C.Zeviani M. + HUMAN MOLECULAR GENETICS - -
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator 2010 Ghezzi D.Zeviani M. + HUMAN MOLECULAR GENETICS - -
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor 2010 Ghezzi D.Mora M.D'Adamo P.Novara F.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
Infantile mitochondrial encephalopathy 2011 Ghezzi D.Zeviani M. + SEMINARS IN FETAL & NEONATAL MEDICINE - -
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 - -
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations 2012 Ghezzi D.Bertini E.Zeviani M. + BRAIN - -
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 - -
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor 2012 Ghezzi D.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis 2012 Ghezzi D.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease 2013 Ghezzi D.Zeviani M. + NEUROLOGY - -
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 - -
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 - -
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 2013 Burlina A.Zeviani M.Ghezzi D. + HUMAN MUTATION - -
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy 2013 Ghezzi D.Gorza M.Bean C.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -