I. Banchs

发表

Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.

M. Gratacós, X. Estivill, M. Pujana, 1998, Journal of medical genetics.

Diagnosis of Charcot-Marie-Tooth Disease

V. Volpini, M. Povedano, C. Casasnovas, 2009, Journal of biomedicine & biotechnology.

Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population

V. Volpini, J. Corral, C. Casasnovas, 2006, Clinical genetics.

Phenotypic spectrum of MFN2 mutations in the Spanish population

D. Bonneau, V. Volpini, A. Chevrollier, 2009, Journal of Medical Genetics.

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

X. Estivill, C. Lázaro, A. Bosch, 1994, Human mutation.

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2011, Neurology.

Charcot–marie–tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene

V. Volpini, C. Casasnovas, J. Montero, 2010, Muscle & nerve.

Two Spanish families with Charcot–Marie–Tooth type 2A: Clinical, electrophysiological and molecular findings

V. Volpini, C. Casasnovas, J. Montero, 2008, Neuromuscular Disorders.

Post-transplant lymphoma in a liver allograft

J. Figueras, E. Jaurrieta, Y. Ribas, 1995, Transplant international : official journal of the European Society for Organ Transplantation.

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

X. Estivill, N. López-Bigas, P. Gasparini, 2001, Human molecular genetics.

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

M. Gratacós, X. Estivill, M. Pujana, 1999, Human Genetics.

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

R. Corominas, N. Fernàndez-Castillo, B. Cormand, 2009, Journal of the Neurological Sciences.

Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population

X. Estivill, V. Volpini, J. Fuentes, 2005, International Journal of Legal Medicine.

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

V. Volpini, M. Povedano, C. Casasnovas, 2012, Muscle & nerve.

MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

J. González, L. Armengol, Olaya Villa, 2021, Scientific Reports.

Giant SCA8 alleles in nine children whose mother has two moderately large ones

V. Volpini, J. Armstrong, J. Corral, 2005, Annals of neurology.

Post‐transplant lymphoma in a liver allograft

J. Figueras, E. Jaurrieta, Y. Ribas, 1995 .

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

V. Volpini, M. Povedano, C. Casasnovas, 2012, Muscle & nerve.