Carlos Cervera

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

Ivon Cuscó, M. J. Barceló, Ricard Rojas‐García et al. · Journal of Neurology · 2005 · 113 citations

Life Sciences, Genetics, Molecular Genetics +15

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

Miguel Á. Martín, Jenny L. Buchbinder, Roberto Fernández‐Hojas et al. · Annals of Neurology · 2001 · 95 citations

Life Sciences, Genetics, Molecular Genetics +14

Autosomal dominant limb-girdle muscular dystrophy

Josep Gámez, Carmen Navarro, Antoni L. Andreu et al. · Neurology · 2001 · 61 citations

Medicine, Genetics, Molecular Genetics +15

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

Lluís Palenzuela, Antoni L. Andreu, Josep Gámez et al. · Neurology · 2003 · 59 citations

Life Sciences, Genetics, Molecular Genetics +13

Phenotypic variability in a Spanish family with MNGIE

Josep Gámez, C. Ferreiro, M. L. Accarino et al. · Neurology · 2002 · 43 citations

Life Sciences, Genetics, Molecular Genetics +17