Browsing by Author "Volpini, Victor"

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  • Sintas, Cèlia; Carreño, Oriel; Fernández Castillo, Noelia; Corominas, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca-León, Ester; Barroeta, Isabel; Roig, Carles; Volpini, Victor; Macaya, Alfons; Cormand, Bru (Nature Publishing Group, 2017)
    Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it ...
  • Serrano Munuera, Carmen; Corral Juan, Marc; Stevanin, Giovanni; San Nicolás, Hector; Roig, Carles; Corral, Jordi; Campos, Berta; Jorge, Laura de; Morcillo Suárez, Carlos, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Forlani, Sylvie; Durr, Alexandra; Kulisevsky, Jaime J.; Brice, Alexis; Sánchez, Ivelisse; Volpini, Victor; Matilla Dueñas, Antoni (American Institute of Physics (AIP), 2013)
    IMPORTANCE: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE: To clinically and genetically ...