Browsing by Author Volpini Bertrán, Víctor

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Issue DateTitleAuthor(s)
1-May-2014Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonismPerandones, C.; Giugni, J. C.; Calvo, D. S.; Raina, G. B.; Jorge López, L. de; Volpini Bertrán, Víctor; Zabetian, C. P.; Mata, Ignacio F.; Caputo, M.; Corach, D.; Radrizzani, M.; Micheli, F. E.
31-May-2017Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxiaSintas Vives, Cèlia; Carreño, Oriel; Fernàndez Castillo, Noèlia; Corominas Castiñeira, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca León, Ester; Barroeta, Isabel; Roig i Arnall, Carles; Volpini Bertrán, Víctor; Macaya Ruiz, Alfons; Cormand Rifà, Bru
1996A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.Barrientos Rubio, Antoni; Volpini Bertrán, Víctor; Casademont i Pou, Jordi; Genís, David; Manzanares, Josep-Maria; Ferrer, Isidro (Ferrer Abizanda); Corral, Jordi; Cardellach, Francesc; Urbano Márquez, A. (Álvaro); Estivill, Xavier, 1955-; Nunes Martínez, Virginia
26-Apr-2011Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMTCassereau, Julien; Casasnovas Pons, Carlos; Gueguen, Naïg; Malinge, Marie Claire; Guillet, Virginie; Reynier, Pascal; Bonneau, Dominique; Amati-Bonneau, Patrizia; Banchs, Isabel; Volpini Bertrán, Víctor; Procaccio, Vincent; Chevrollier, Arnaud