TREVISSON, EVA

TREVISSON, EVA  

Dipartimento di Salute della Donna e del Bambino - SDB  

Risultati 1 - 20 di 90 (tempo di esecuzione: 0.025 secondi).
Titolo Data di pubblicazione Autore(i) Rivista Serie Titolo libro
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly 2005 TREVISSON, EVATENCONI, ROMANOBASSO, GIUSEPPESALVIATI, LEONARDO + BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS - -
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 2006 SALVIATI, LEONARDOTREVISSON, EVA + AMERICAN JOURNAL OF HUMAN GENETICS - -
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 2006 SALVIATI, LEONARDOCASARIN, ALBERTOTREVISSON, EVAOPOCHER, GIUSEPPEPolli RMURGIA, ALESSANDRA + JOURNAL OF HUMAN GENETICS - -
CREB e ICER: Nuovi regolatori dell'espressione genica dipendente dall'AMP ciclico nella leucemia acuta pediatrica. 2006 PIGAZZI, MARTINAMANARA, ELENATREVISSON, EVASALVIATI, LEONARDOBASSO, GIUSEPPE + - - HAEMATOLOGICA
Characterization of the 5 ' region of human CoQ2, a gene causing primary CoQ10 deficiency 2006 TREVISSON, EVASALVIATI, LEONARDO + BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease 2007 SALVIATI, LEONARDOTREVISSON, EVATOLDO, IRENESARTORI STENCONI, ROMANO + NEUROGENETICS - -
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis 2007 SALVIATI, LEONARDOTREVISSON, EVA + HUMAN MOLECULAR GENETICS - -
Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 2007 TREVISSON, EVASALVIATI, LEONARDOTOLDO, IRENEBASSO, GIUSEPPE + HUMAN MUTATION - -
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. 2008 SARTORI SSALVIATI, LEONARDOTREVISSON, EVATOLDO, IRENE + EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
Gene symbol:ASL. Disease: Argininosuccinate deficiency. 2008 TREVISSON, EVASALVIATI, LEONARDOCASARIN, ALBERTOBASSO, GIUSEPPE + HUMAN GENETICS - -
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes 2008 TREVISSON, EVASALVIATI, LEONARDO + CLINICAL BIOCHEMISTRY - -
A functionally dominant mitochondrial DNA mutation 2008 SALVIATI, LEONARDOTREVISSON, EVA + HUMAN MOLECULAR GENETICS - -
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 - -
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability 2008 TREVISSON, EVASALVIATI, LEONARDOSCORRANO, LUCA + HUMAN MOLECULAR GENETICS - -
Genetic bases and experimental models for the study of inherited metabolic diseases 2008 Trevisson, Eva - - -
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. 2009 SALVIATI, LEONARDOTREVISSON, EVA + JOURNAL OF HUMAN 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 - -
OPA1 and Its Clinical Implications 2009 TREVISSON, EVASALVIATI, LEONARDOSCORRANO, LUCA - - In: Encyclopedia of Life Sciences (ELS). John Wiley & Sons, Ltd: Chichester.
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 2009 TREVISSON, EVACARRARO, SILVIACLEMENTI, MAURIZIOBARALDI, EUGENIOSALVIATI, LEONARDO + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis 2010 TREVISSON, EVASALVIATI, LEONARDO + THE JOURNAL OF BIOLOGICAL CHEMISTRY - -