Publicaciones en colaboración con investigadores/as de Klinikum der Universität München (11)

2023

  1. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

2020

  1. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2017

  1. Molecular characterization of congenital myasthenic syndromes in Spain

    Neuromuscular Disorders, Vol. 27, Núm. 12, pp. 1087-1098

2016

  1. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

    Neuromuscular Disorders, Vol. 26, Núm. 2, pp. 153-159

2012

  1. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

    Journal of Neurology, Vol. 259, Núm. 3, pp. 474-481

  2. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

    Journal of Neurology, Vol. 259, Núm. 5, pp. 838-850

2011

  1. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

    American Journal of Human Genetics, Vol. 88, Núm. 2, pp. 162-172

2008

  1. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

    Brain, Vol. 131, Núm. 3, pp. 747-759

2007

  1. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

    Brain, Vol. 130, Núm. 6, pp. 1497-1506

2005

  1. 125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands

    Neuromuscular Disorders

  2. LGMD2A: Genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene

    Brain, Vol. 128, Núm. 4, pp. 732-742