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The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
Natera-de Benito D, Ortez C, Jou C, et al.
Pediatric neurology, 2020, 115, p 50
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, et al.
Genes, 2020, 11, 5
Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
Trifunov S, Natera-de Benito D, Exposito Escudero JM, et al.
Frontiers in neurology, 2020, 11, p 304
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-Garcia L, et al.
Neuromuscular disorders : NMD, 2020
Retrospective natural history of thymidine kinase 2 deficiency
Garone C, Taylor RW, Nascimento A, et al.
Journal of medical genetics, 2018
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Fernandez-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, et al.
Neuromuscular disorders : NMD, 2017, 27, 2, p 188
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitor
Natera-de Benito D, Nascimento A, Abicht A, et al.
Journal of neurology, 2016, 263, 3, p 517
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
Natera-de Benito D, Dominguez-Carral J, Muelas N, et al.
Neuromuscular disorders : NMD, 2016, 26, 11, p 789
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
Natera-de Benito D, Bestue M, Vilchez JJ, et al.
Neuromuscular disorders : NMD, 2016, 26, 2, p 153
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, et al.
PLoS ONE, 2015, 10, 8
A heterozygous Rapsyn (RAPSN) gene mutation (N88K) and (S201R), is a cause of progressive Limb Girdle Myasthenia (Poster)
Collectif, Colomer J, Nascimento A, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 748-749
Mitofusin gene mutations (MFN 2) cause a severe CMT2A with diaphragm paresis involvement (Poster)
Collectif, Colomer J, Nascimento A, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 734
Successful long-term acethylcholinesterase inhibitor therapy in patients affected by Rapsyn (RAPSN) mutation early onset phenotype (Poster)
Collectif, Nascimento A, Colomer J, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 748
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.
Frongia AL, Natera-de Benito D, Ortez C, et al.
Neuromuscular disorders : NMD
