DOIMO, MARA

DOIMO, MARA  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis 2008 CASARIN, ALBERTOTREVISSON, EVADOIMO, MARABASSO, GIUSEPPESALVIATI, LEONARDO + BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS - -
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations 2009 TREVISSON, EVADOIMO, MARACASARIN, ALBERTOCESARO, LUCABASSO, GIUSEPPESARTORI, GEPPOSALVIATI, LEONARDO + THE JOURNAL OF BIOLOGICAL CHEMISTRY - -
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 2011 SALVIATI, LEONARDOTREVISSON, EVADOIMO, MARACASARIN, ALBERTO + THE JOURNAL OF CLINICAL INVESTIGATION - -
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 2012 DOIMO, MARATREVISSON, EVASARTORI, GEPPOSALVIATI, LEONARDO + JOURNAL OF INHERITED METABOLIC DISEASE - -
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 2012 CASARIN, ALBERTODOIMO, MARABASSO, GIUSEPPECASSINA, MATTEORIZZUTO, ROSARIOCLEMENTI, MAURIZIOTREVISSON, EVASALVIATI, LEONARDO + ORPHANET JOURNAL OF RARE DISEASES - -
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency 2012 SALVIATI, LEONARDOTREVISSON, EVACASARIN, ALBERTODOIMO, MARACASSINA, MATTEOSARTORI, GEPPO + JOURNAL OF MEDICAL GENETICS - -
Yeast models for the study of mitochondrial genetic defects and other metabolic disorders 2012 Doimo, Mara - - -
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients 2013 DOIMO, MARASARTORI, GEPPOSALVIATI, LEONARDO + JOURNAL OF INHERITED METABOLIC DISEASE - -
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 2013 DOIMO, MARABASSO, GIUSEPPESARTORI, GEPPOTREVISSON, EVASALVIATI, LEONARDO + HUMAN MUTATION - -
Molecular Genetics of Argininosuccinic Aciduria 2014 TREVISSON, EVADOIMO, MARASALVIATI, LEONARDO - - Encyclopedia of Life Sciences (ELS)
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 2014 DESBATS, MARIA ANDREALUNARDI, GIADADOIMO, MARATREVISSON, EVASALVIATI, LEONARDO JOURNAL OF INHERITED METABOLIC DISEASE - -
Genetics of coenzyme q10 deficiency. 2014 DOIMO, MARADESBATS, MARIA ANDREACASSINA, MATTEOTREVISSON, EVASALVIATI, LEONARDO + MOLECULAR SYNDROMOLOGY - -
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency 2014 DOIMO, MARATREVISSON, EVASALVIATI, LEONARDO + BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - -
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 2014 CASARIN, ALBERTODESBATS, MARIA ANDREADOIMO, MARATREVISSON, EVASALVIATI, LEONARDO + BIOCHIMICA ET BIOPHYSICA ACTA - -
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans 2015 Doimo, MaraLopreiato, RaffaeleBortolotto, RaissaTrevisson, EvaSalviati, Leonardo + JIMD REPORTS - -
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 2015 LUNARDI, GIADACASARIN, ALBERTODOIMO, MARASPINAZZI, MARCOANGELINI, CORRADOBURLINA, ALBERTOCHIANDETTI, LINOCLEMENTI, MAURIZIOTREVISSON, EVASALVIATI, LEONARDO + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans 2016 DOIMO, MARALOPREIATO, RAFFAELEBASSO, VALENTINABORTOLOTTO, RAISSATREVISSON, EVASALVIATI, LEONARDO + JIMD REPORTS - -
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency 2016 MORBIDONI, VALERIASILIC-BENUSSI, MICOLDOIMO, MARACIMINALE, VINCENZOCASSINA, MATTEOBASSO, GIUSEPPESALVIATI, LEONARDOTREVISSON, EVA + HUMAN MOLECULAR GENETICS - -
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 - -
Primary Coenzyme Q10 Deficiency 2017 SALVIATI, LEONARDOTREVISSON, EVADOIMO, MARA + - GENEREVIEWS GeneReviews®