Publicaciones en colaboración con investigadores/as de Pitié-Salpêtrière Hospital (8)

2020

  1. Genotype–phenotype correlations in recessive titinopathies

    Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040

2019

  1. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585

2017

  1. Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

    Neuromuscular Disorders, Vol. 27, Núm. 4, pp. 307-314

  2. Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

    Pediatric Pulmonology, Vol. 52, Núm. 4, pp. 508-515

2016

  1. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

    Neuromuscular Disorders, Vol. 26, Núm. 8, pp. 473-480

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

2002

  1. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

    Nature Genetics, Vol. 30, Núm. 1, pp. 22-25