Juan J. Vílchez
Institut national de recherche en sciences et technologies du numérique(FR)Children's National(US)Universitat de València(ES)Instituto de Salud Carlos III(ES)Hospital Universitari i Politècnic La Fe(ES)Centre Tecnologic de Telecomunicacions de Catalunya(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Instituto de Investigación Biosanitaria de Granada(ES)Hospital Quirónsalud Barcelona(ES)Centro de Investigación Biomédica en Red(ES)Hospital Universitario Virgen de las Nieves(ES)Leitat Technological Center(ES)Instituto de Biomedicina de Valencia(ES)Instituto de Investigación de Enfermedades Raras(ES)Instituto de Investigación Sanitaria La Fe(ES)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial(2017)451 cited
- → The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease(2001)359 cited
- → EFNS guidelines on the diagnostic approach to pauci‐ or asymptomatic hyperCKemia(2010)193 cited
- → LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene(2005)180 cited
- → Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat(1997)173 cited
- → Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect(2011)171 cited