Isabel Banchs

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases

Miguel Angel Pujana, Jordi Corral, Mónica Gratacòs et al. · Human Genetics · 1999 · 131 citations

Genetic Analysis, Mendelian Disorder, Genetic Disorder +9

Phenotypic spectrum of MFN2 mutations in the Spanish population

Carlos Casasnovas, Isabel Banchs, Julien Cassereau et al. · Journal of Medical Genetics · 2009 · 62 citations

New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines

Isabel Banchs, Assumpció Bosch, Jordi Guimerá et al. · Human Mutation · 1994 · 47 citations

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene

Ester Cuenca-León, Isabel Banchs, Selma A. Serra et al. · Journal of the Neurological Sciences · 2009 · 41 citations

Novel Loss-of-function Mutation, Cacna1a Gene, Mendelian Disorder +7

Simultaneous <i>MFN2</i> and <i>GDAP1</i> mutations cause major mitochondrial defects in a patient with CMT

Julien Cassereau, Carlos Casasnovas, Naïg Guéguen et al. · Neurology · 2011 · 38 citations · Full text