Juan J. Vílchez

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 446 citations · Full text

Rare Diseases, Urology, Clinical Trials +5

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Ana Cuesta, Laia Pedrola, Teresa Sevilla et al. · Nature Genetics · 2001 · 359 citations

Developmental Biology, Genetics, Experimental Neuropathology +5

EFNS guidelines on the diagnostic approach to pauci‐ or asymptomatic hyperCKemia

Theodoros Kyriakides, C. Angelini, J. Schaefer et al. · European Journal of Neurology · 2010 · 193 citations

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

Amets Sáenz, France Leturcq, A.M. Cobo et al. · Brain · 2005 · 179 citations · Full text

Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat

Eugènia Monrós, María Dolores Moltó, Francisco Martı́nez et al. · The American Journal of Human Genetics · 1997 · 173 citations · Full text

Genetic Analysis, Genetic Disorder, Genetics +9