Liana Veneziano

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 338 citations

Mitochondrial Function, Genetic Disorder, Genetics +4

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 · 291 citations · Full text

Chromosome 19P, Cacna1a Gene, Mendelian Disorder +14

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 · 155 citations · Full text

Channelopathies, Molecular Neuroscience, Complete Loss +4

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark Corbett, Thessa Kroes, Liana Veneziano et al. · Nature Communications · 2019 · 154 citations · Full text

A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

M. Spadaro, Simona Ursu, Frank Lehmann‐Horn et al. · Neurogenetics · 2004 · 135 citations

G301r Na+/k+-atpase Mutation, Neurobiology Of Disease, Neurophysiology +9