Publicacións en colaboración con investigadores/as de Assistance Publique -Hopitaux De Paris (8)

2023

  1. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

2019

  1. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

    Brain, Vol. 142, Núm. 9, pp. 2605-2616

2011

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

    Clinical Genetics

2010

  1. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

    Psychological Medicine, Vol. 40, Núm. 3, pp. 487-495

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

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

2009

  1. Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia

    Neuromuscular Disorders, Vol. 19, Núm. 5, pp. 316-323

2006

  1. CAPN3 mutations in patients with idiopathic eosinophilic myositis

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