SALVIATI, LEONARDO

SALVIATI, LEONARDO  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Risultati 1 - 20 di 187 (tempo di esecuzione: 0.031 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
6q27 subtelomeric deletions: Is there a specific phenotype? 2011 SALVIATI, LEONARDOCLEMENTI, MAURIZIO + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation 2023 Landi, AndreaBiundo, RobertaSalviati, LeonardoCarecchio, MiryamAntonini, Angelo + NEUROLOGICAL SCIENCES - -
A functionally dominant mitochondrial DNA mutation 2008 SALVIATI, LEONARDOTREVISSON, EVA + HUMAN MOLECULAR GENETICS - -
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 2006 SALVIATI, LEONARDOTREVISSON, EVA + AMERICAN JOURNAL OF HUMAN GENETICS - -
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum? 2019 Favaretto, SilviaMargoni, MonicaSalviati, LeonardoManara, RenzoBaracchini, Claudio + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
A novel CRYAB mutation resulting in multisystemic disease. 2012 SALVIATI, LEONARDO + NEUROMUSCULAR DISORDERS - -
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease 2007 SALVIATI, LEONARDOTREVISSON, EVATOLDO, IRENESARTORI STENCONI, ROMANO + NEUROGENETICS - -
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 - -
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis. 2020 Francesca CaroppoElena CamaCinzia BertolinLeonardo SalviatiAnna Belloni Fortina + CLINICAL CASE REPORTS - -
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome 2022 Salviati, Leonardo + MOLECULAR GENETICS AND METABOLISM REPORTS - -
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 2017 CASSINA, MATTEOCERQUA, CRISTINASALVIATI, LEONARDOMARTINI, ALESSANDROCLEMENTI, MAURIZIOTREVISSON, EVA + EUROPEAN JOURNAL OF HUMAN GENETICS - -
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms 2024 Calderan, CristinaPersano, LucaTrevisson, EvaSartori, GeppoSalviati, LeonardoDesbats, Maria Andrea + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy 2023 Gragnaniello V.Salviati L. + ORPHANET JOURNAL OF RARE DISEASES - -
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease 2010 SALVIATI, LEONARDO + JOURNAL OF NEUROLOGY - -
Acute disseminated encephalomyelitis associated with hepatitis C virus infection 2001 SALVIATI, LEONARDO + ARCHIVES OF NEUROLOGY - -
Acute quadriplegic myopathy in a 17 month old boy 2000 SALVIATI, LEONARDOLAVERDA, ANNA MARIAZANCAN, LUCIAFANIN, MARINAANGELINI, CORRADO + JOURNAL OF CHILD NEUROLOGY - -
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency 2019 Salviati, Leonardo + JOURNAL OF CLINICAL MEDICINE - -
ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption 2013 SALVIATI, LEONARDO + THE JOURNAL OF CLINICAL INVESTIGATION - -
Adult-onset KMT2B-related dystonia 2022 Salviati L.Carecchio M. + BRAIN COMMUNICATIONS - -
Age and sex prevalence estimate of Joubert syndrome in Italy. 2020 Bertini ENardella MRomaniello RZanni GValente EMMaria Cristina DigilioEmanuele MicaglioMargherita NosadiniPasquale ParisiLeonardo SalviatiMarco SeriAlessandro SimonatiEva Trevisson + NEUROLOGY - -