Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype-phenotype correlation study
Martín, Miguel A., Rubio, Juan C., Buchbinder, Jenny, Fernández-Hojas, Roberto, Del Hoyo, Pilar, Teijeira, Susana, Gámez, Josep, Navarro, Carmen, Fernández, José M., Cabello, Ana, Campos, Yolanda, Cervera, Carlos, Culebras, José M., Andreu, Antoni L., Fletterick, Robert, Arenas, Joaquín
Published in Annals of neurology (01.11.2001)
Published in Annals of neurology (01.11.2001)
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Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy
Seijo-Martı́nez, Manuel, Castro del Rı́o, Marı́a, Campos, Yolanda, Palau, Francisco, Arenas, Joaquı́n, Teijeira, Susana, Fernández Hojas, Roberto, Navarro, Carmen
Published in Journal of the neurological sciences (15.04.2003)
Published in Journal of the neurological sciences (15.04.2003)
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Journal Article
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients
Calvo, Francisco, Teijeira, Susana, Fernandez, Jose M, Teijeiro, Alfonso, Fernandez-Hojas, Roberto, Fernandez-Lopez, Xesus A, Martin, Enrique, Navarro, Carmen
Published in Neuromuscular disorders : NMD (01.12.2000)
Published in Neuromuscular disorders : NMD (01.12.2000)
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Journal Article
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)
Fernandez-Hojas, Roberto, Huie, Maryann L., Navarro, Carmen, Dominguez, Carmen, Roig, Manuel, Lopez-Coronas, Diana, Teijeira, Susana, Anyane-Yeboa, Kwame, Hirschhorn, Rochelle
Published in Neuromuscular disorders : NMD (01.02.2002)
Published in Neuromuscular disorders : NMD (01.02.2002)
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Journal Article
A New Rare Mutation (691delCC/insAAA) in Exon 17 of the PYGM Gene Causing McArdle Disease
Quintans, Beatriz, Sanchez-Andrade, Amalia, Teijeira, Susana, Fernandez-Hojas, Roberto, Rivas, Eloy, López, María José, Navarro, Carmen
Published in Archives of neurology (Chicago) (01.07.2004)
Published in Archives of neurology (Chicago) (01.07.2004)
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