Ginevra Zanni

Mutation of plasma membrane Ca ²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca ²⁺ homeostasis

Ginevra Zanni, Tito Calí, Vera M. Kalscheuer et al. · Proceedings of the National Academy of Sciences · 2012 · 120 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +13

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Defects of blastogenesis

John M. Opitz, Ginevra Zanni, James F. Reynolds et al. · American Journal of Medical Genetics · 2002 · 110 citations

Life Sciences, Genetics, Human Development +11

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Ginevra Zanni, Yoann Saillour, Majdi Nagara et al. · Neurology · 2005 · 110 citations

Life Sciences, Genetics, Molecular Genetics +16

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel et al. · Orphanet Journal of Rare Diseases · 2012 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17