VAZZA, GIOVANNI

VAZZA, GIOVANNI  

Dipartimento di Biologia - DiBio  

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Risultati 1 - 20 di 57 (tempo di esecuzione: 0.033 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A locus for migraine without aura maps on chromosome 14q21.2-q22.3 2003 VETTORI, ANDREAVAZZA, GIOVANNIMOSTACCIUOLO, MARIA LUISA + AMERICAN JOURNAL OF HUMAN GENETICS - -
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28 2000 VAZZA, GIOVANNIZORTEA, MICHELAMOSTACCIUOLO, MARIA LUISA + AMERICAN JOURNAL OF HUMAN GENETICS - -
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. 2000 VAZZA, GIOVANNIBOARETTO, FRANCESCA + AMERICAN JOURNAL OF HUMAN GENETICS - -
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset 2006 VAZZA, GIOVANNIBERTOLIN, CINZIAZORTEA, MICHELAMOSTACCIUOLO, MARIA LUISA + NEUROMUSCULAR DISORDERS - -
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy 2007 VAZZA, GIOVANNIMOSTACCIUOLO, MARIA LUISA + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. 2009 VAZZA, GIOVANNIMOSTACCIUOLO, MARIA LUISA + BMJ CASE REPORT - -
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. 2013 GREGIANIN, ELISAVAZZA, GIOVANNIBOARETTO, FRANCESCAVETTORI, ANDREALEONARDI, EMANUELATOSATTO, SILVIOManara RPEGORARO, ELENAMOSTACCIUOLO, MARIA LUISA + EUROPEAN JOURNAL OF NEUROLOGY - -
Abstracts of the XXIII rd World Congress of Psychiatric Genetics (WCPG): Poster abstracts 2017 Cecilia SalvoroCAMPANELLI, CARLOLivio FinosGiorgio ValleLuisa MostacciuoloStefania BortoluzziGiovanni Vazza EUROPEAN NEUROPSYCHOPHARMACOLOGY - -
Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder. 2011 BERTOLIN, CINZIAVETTORI, ANDREAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISAVAZZA, GIOVANNI + JOURNAL OF HUMAN GENETICS - -
c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family. 2008 VETTORI, ANDREABOARETTO, FRANCESCAVAZZA, GIOVANNIBERGAMIN, GIORGIAMOSTACCIUOLO, MARIA LUISA + - - -
Clinical and genetic characterization of an Italian family with slow-channel syndrome 2018 Angelini, CorradoSalvoro, CeciliaMostacciuolo, Maria LuisaVazza, Giovanni + NEUROLOGICAL SCIENCES - -
Clinical and genetic features of a large cohort of Italian SPG4 patients from the D.A.I.S.Y. collaborative network 2021 Martinuzzi, AndreaRizzo, GiovanniVazza, GiovanniPegoraro, Elena + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia 2022 Vazza, Giovanni + BRAIN - -
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 2020 Vazza G. + GENETICS IN MEDICINE - -
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 2022 Pegoraro, ElenaVazza, Giovanni + NEUROLOGY. GENETICS - -
Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy 2011 VETTORI, ANDREABERGAMIN, GIORGIAMORO, ENRICOVAZZA, GIOVANNITISO, NATASCIAARGENTON, FRANCESCOMOSTACCIUOLO, MARIA LUISA + NEUROMUSCULAR DISORDERS - -
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients 2016 BOARETTO, FRANCESCASNIJDERS, DEBORAHSALVORO, CECILIAMOSTACCIUOLO, MARIA LUISABARBATO, ANGELOVAZZA, GIOVANNI + THE JOURNAL OF MOLECULAR DIAGNOSTICS - -
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 2018 STEVANIN, GIOVANNIBurgo, AndreaVAVLA, MARINELAVazza, Giovanni + JAMA NEUROLOGY - -
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia 2006 MARTINUZZI, ANDREAVAZZA, GIOVANNIMOSTACCIUOLO, MARIA LUISAORSO GTREVISAN, CARLO PIETRO + ARCHIVES OF NEUROLOGY - -
Evaluation of linkage signals in a subset of families with high recurrence of schizophrenia and bipolar disorder originating from Chioggia 2007 BERTOLIN, CINZIAVAZZA, GIOVANNIVETTORI, ANDREABOARETTO, FRANCESCARAMPINELLI, SABINAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISA + - - 3rd International meeting on genetics of complex diseases and isolated populations