Publicacions en col·laboració amb investigadors/es de French Institute of Health and Medical Research (9)

2022

  1. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

2019

  1. Impaired Mitophagy and Protein Acetylation Levels in Fibroblasts from Parkinson’s Disease Patients

    Molecular Neurobiology, Vol. 56, Núm. 4, pp. 2466-2481

2016

  1. Natural history of LGMD2A for delineating outcome measures in clinical trials

    Annals of Clinical and Translational Neurology, Vol. 3, Núm. 4, pp. 248-265

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2006

  1. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

    Brain and Development, Vol. 28, Núm. 4, pp. 232-242

  2. CAPN3 mutations in patients with idiopathic eosinophilic myositis

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

  3. Screening of the CAPN3 gene in patients with possible LGMD2A [4]

    Clinical Genetics

1999

  1. Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism

    American Journal of Human Genetics, Vol. 65, Núm. 5, pp. 1437-1448

1997

  1. Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity

    Annals of Neurology, Vol. 42, Núm. 6, pp. 885-890