CASARIN, ALBERTO

CASARIN, ALBERTO  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Risultati 1 - 15 di 15 (tempo di esecuzione: 0.061 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 2006 SALVIATI, LEONARDOCASARIN, ALBERTOTREVISSON, EVAOPOCHER, GIUSEPPEPolli RMURGIA, ALESSANDRA + JOURNAL OF HUMAN GENETICS - -
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene. 2008 SARTORI, STEFANOPOLLI RTOLDO, IRENECASARIN, ALBERTODRIGO, PAOLAMURGIA, ALESSANDRA + JOURNAL OF CHILD NEUROLOGY - -
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 - -
Gene symbol:ASL. Disease: Argininosuccinate deficiency. 2008 TREVISSON, EVASALVIATI, LEONARDOCASARIN, ALBERTOBASSO, GIUSEPPE + HUMAN GENETICS - -
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 2008 SPINAZZI, MARCOBORTOLOZZI, MARIOLORO, EMANUELECASARIN, ALBERTOMALENA, ADRIANAANGELINI, CORRADOSCORRANO, LUCASALVIATI, LEONARDO + HUMAN MOLECULAR GENETICS - -
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 - -
Is CFTR 621+3 A > G a cystic fibrosis causing mutation? 2010 FORZAN, MONICASALVIATI, LEONARDOCASARIN, ALBERTOBRUSON, ALICETREVISSON, EVACLEMENTI, MAURIZIO + JOURNAL OF HUMAN GENETICS - -
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 2011 SALVIATI, LEONARDOTREVISSON, EVADOIMO, MARACASARIN, ALBERTO + THE JOURNAL OF CLINICAL INVESTIGATION - -
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. 2011 CASARIN, ALBERTOSALVIATI, LEONARDOANGELINI, CORRADO + MITOCHONDRION - -
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency 2012 SALVIATI, LEONARDOTREVISSON, EVACASARIN, ALBERTODOIMO, MARACASSINA, MATTEOSARTORI, GEPPO + JOURNAL OF MEDICAL GENETICS - -
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 - -
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency. 2013 SORIANO GARCIA - CUERVA, MARIA EUGENIACASARIN, ALBERTOSALVIATI, LEONARDOSCORRANO, LUCA + CELL - -
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 2014 CASARIN, ALBERTODESBATS, MARIA ANDREADOIMO, MARATREVISSON, EVASALVIATI, LEONARDO + BIOCHIMICA ET BIOPHYSICA ACTA - -
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 - -
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 2015 CASARIN, ALBERTOTREVISSON, EVACASSINA, MATTEOCLEMENTI, MAURIZIOSALVIATI, LEONARDO + CLINICAL CHEMISTRY AND LABORATORY MEDICINE - -