Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (17)

2022

  1. Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain

    Neurologia, Vol. 37, Núm. 4, pp. 257-262

2020

  1. Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

    Cerebellum, Vol. 19, Núm. 4, pp. 501-509

2017

  1. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

    Journal of Translational Medicine, Vol. 15, Núm. 1

  2. PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

    Movement Disorders, Vol. 32, Núm. 2, pp. 264-273

  3. Prevalence of spinocerebellar ataxia 36 in a US population

    Neurology: Genetics, Vol. 3, Núm. 4

2014

  1. Medical genomics: The intricate path from genetic variant identification to clinical interpretation

    Applied and Translational Genomics, Vol. 3, Núm. 3, pp. 60-67

2012

  1. Databases for neurogenetics: Introduction, overview, and challenges

    Human Mutation, Vol. 33, Núm. 9, pp. 1311-1314

  2. Erratum: Prevalence of parkinsonism and Parkinson's disease in the Arosa Island (Spain): A community-based door-to-door survey (Journal of the Neurological Sciences (2011) 304 (49-54))

    Journal of the Neurological Sciences

2011

  1. Prevalence of parkinsonism and Parkinson's disease in the Arosa Island (Spain): A community-based door-to-door survey

    Journal of the Neurological Sciences, Vol. 304, Núm. 1-2, pp. 49-54

  2. Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa

    Neurologia, Vol. 26, Núm. 7, pp. 397-404

  3. sesoramiento genético en Neurología: un problema complejo que necesita regulación

    Neurologia, Vol. 26, Núm. 3, pp. 129-136

2010

  1. Alteraciones de la esfera emocional y el control de los impulsos en la enfermedad de Parkinson

    Revista de Neurologia, Vol. 50, Núm. SUPPL. 2

  2. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

    Human Mutation, Vol. 31, Núm. 11, pp. 1179-1184

2009

  1. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

    Human Molecular Genetics, Vol. 18, Núm. 13, pp. 2370-2377

  2. Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

    Genetics in Medicine

  3. Planning the human variome project: The Spain report

    Human Mutation, Vol. 30, Núm. 4, pp. 496-510

2008

  1. Genetics: The human variome project

    Science