Roberto Fernández‐Hojas

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

Miguel A. Martı́n, Jenny L. Buchbinder, Roberto Fernández‐Hojas et al. · Annals of Neurology · 2001 · 94 citations

Autosomal dominant limb-girdle muscular dystrophy

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

Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

Francisco Calvo, Susana Teijeira, J.M. Fernandez et al. · Neuromuscular Disorders · 2000 · 43 citations

Cardiomyopathy, Heart Failure, Heart Involvement +6

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

Roberto Fernández‐Hojas, Maryann L. Huie, Carmen Navarro et al. · Neuromuscular Disorders · 2002 · 29 citations

Acid Alpha-glucosidase Gene, Pompe Disease, Mendelian Disorder +11

A New Rare Mutation (691delCC/insAAA) in Exon 17 of the PYGM Gene Causing McArdle Disease

Beatriz Quintáns, A Sánchez-Andrade, Susana Teijeira et al. · Archives of Neurology · 2004 · 14 citations