Giovanni Vazza

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north‐east Italian population sample

ML Mostacciuolo, Ebe Pastorello, Giovanni Vazza et al. · Clinical Genetics · 2009 · 156 citations

Facioscapulohumeral Muscular Dystrophy, Mendelian Disorder, Fshd Patients +13

Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca²⁺signalling

Elisa Gregianin, Giorgia Pallafacchina, Sofia Zanin et al. · Human Molecular Genetics · 2016 · 93 citations · Full text

A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3

D. Soragna, Andrea Vettori, Gianni Carraro et al. · The American Journal of Human Genetics · 2003 · 92 citations · Full text

Cluster Headache, Aura Maps, Genetic Disorder +4

A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28

Giovanni Vazza, M. Zortea, Francesca Boaretto et al. · The American Journal of Human Genetics · 2000 · 74 citations · Full text

Down Syndrome, Distal Motor Neuropathy, Mendelian Disorder +11

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

Jean‐Loup Méreaux, Guillaume Banneau, Mélanie Papin et al. · Brain · 2021 · 63 citations · Full text

Index Patients, Pain Medicine, Genetics +25