Elide Mantuano

Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p

Carla Jodice, Elide Mantuano, Liana Veneziano et al. · Human Molecular Genetics · 1997 · 294 citations · Full text

Life Sciences, Genetics, Neurology +16

X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene

Anna Villa, Luigi D. Notarangelo, Paolo Macchi et al. · Nature Genetics · 1995 · 285 citations

Life Sciences, Genetics, Hematology +13

Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

Serena Guida, Flavia Trettel, Stefano Pagnutti et al. · The American Journal of Human Genetics · 2001 · 156 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Anaemia and resistance to erythropoiesis-stimulating agents as prognostic factors in haemodialysis patients: results from the RISCAVID study

Vincenzo Panichi, Alberto Rosati, Roberto Bigazzi et al. · Nephrology Dialysis Transplantation · 2011 · 154 citations

Medicine, Nephrology, Dialysis +16

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

Elide Mantuano, Silvia Romano, Liana Veneziano et al. · Journal of the Neurological Sciences · 2010 · 87 citations

Life Sciences, Genetics, Molecular Genetics +9