Publicaciones en colaboración con investigadores/as de Hospital Virgen del Camino (16)

2022

  1. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

2021

  1. Clinical characteristics and outcomes of thymoma-associated myasthenia gravis

    European Journal of Neurology, Vol. 28, Núm. 6, pp. 2083-2091

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

  2. Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain

    Genes, Vol. 11, Núm. 5

2019

  1. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  2. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2015

  1. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Brain

2014

  1. A small noncoding RNA signature found in exosomes of GBM patient serum as a diagnostic tool

    Neuro-Oncology, Vol. 16, Núm. 4, pp. 520-527

2013

  1. Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

    Human Mutation, Vol. 34, Núm. 1, pp. 79-82

2011

  1. Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

    Muscle and Nerve, Vol. 44, Núm. 5, pp. 710-714

  2. Eosinophilic infiltration related to CAPN3 mutations: A pathophysiological component of primary calpainopathy?

    Clinical Genetics

2010

  1. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

    Nature Genetics, Vol. 42, Núm. 3, pp. 234-239

2008

  1. Gene expression profiling in limb-girdle muscular dystrophy 2A

    PLoS ONE, Vol. 3, Núm. 11

2006

  1. CAPN3 mutations in patients with idiopathic eosinophilic myositis

    Annals of Neurology, Vol. 59, Núm. 6, pp. 905-911

1998

  1. Distrofia muscular por déficit de la subunidad alfa-sarcoglucano del complejo de proteínas relacionadas con la distrofina

    Medicina Clinica, Vol. 110, Núm. 14, pp. 538-542

  2. Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)

    Brain, Vol. 121, Núm. 9, pp. 1735-1747