Liana Veneziano
Istituti di Ricovero e Cura a Carattere Scientifico(IT)Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Neurological disorders and treatments, Ion channel regulation and function, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28(2010)341 cited
- → Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p(1997)292 cited
- → Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2(2019)164 cited
- → Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2(2001)156 cited
- → A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs(2004)135 cited
- → De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions(2016)117 cited