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British Journal of Clinical Pharmacology|March 6, 2018
Relevance of CYP3A4*20, UGT1A1*37 and UGT1A1*28 variants in irinotecan-induced severe toxicityPau Riera, Juliana Salazar, Anna C Virgili, et al.
Neuromuscular Disorders : NMD|April 22, 2004
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemiaLaura Alias, Pía Gallano, Dolores Moreno, et al.
Journal of the Neurological Sciences|October 22, 2008
Phenotypic variability in a Spanish family with a Caveolin-3 mutationPaloma González-Pérez, Pía Gallano, Lidia González-Quereda, et al.
Archivos De Bronconeumologia|May 16, 2024
Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1)Esther Palones, Vicente Plaza, Lidia Gonzalez-Quereda, et al.
Journal of Neurology|November 2, 2023
Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)Esther Palones, Elena Curto, Vicente Plaza, et al.
Frontiers in Genetics|November 4, 2022
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafnessLaura Alías, Miguel López de Heredia, Sabina Luna, et al.
Cellular and Molecular Life Sciences : CMLS|January 25, 2016
Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin hemichannels that lead to apoptosisLuis A Cea, Carlos Puebla, Bruno A Cisterna, et al.
Clinical Genetics|January 21, 2022
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiativeJuan Luque, Ingrid Mendes, Beatriz Gómez, et al.
Neuromuscular Disorders : NMD|November 18, 2015
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genesJordi Díaz-Manera, Aida Alejaldre, Laura González, et al.
Epilepsia|April 9, 2020
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterizationDaniel Natera-de Benito, Jordi Muchart, Debora Itzep, et al.
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