Publicaciones en las que colabora con ANA GOROSTIDI PAGOLA (30)

2023

  1. Corrigendum: Clinical and genetic analysis of Costa Rican patients with Parkinson's disease (Front. Neurol., (2022), 12, 656342, 10.3389/fneur.2021.656342)

    Frontiers in Neurology

2021

  1. A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene

    Frontiers in Neurology, Vol. 12

  2. Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease

    Frontiers in Neurology, Vol. 12

  3. R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils

    Acta Neuropathologica, Vol. 142, Núm. 3, pp. 475-494

2019

  1. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

    Movement Disorders, Vol. 34, Núm. 12, pp. 1851-1863

  2. Using global team science to identify genetic parkinson's disease worldwide

    Annals of Neurology

2018

  1. LRP10 in α-synucleinopathies

    The Lancet Neurology

  2. Ratios of proteins in cerebrospinal fluid in Parkinson's disease cognitive decline: prospective study

    Movement Disorders, Vol. 33, Núm. 11, pp. 1809-1813

2017

  1. Progressive changes in non-coding RNA profile in leucocytes with age

    Aging, Vol. 9, Núm. 4, pp. 1202-1218

  2. Tau/α-synuclein ratio and inflammatory proteins in Parkinson's disease: An exploratory study

    Movement Disorders, Vol. 32, Núm. 7, pp. 1066-1073

2016

  1. DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2R1441G Parkinson's disease

    Movement Disorders, Vol. 31, Núm. 3, pp. 335-343

  2. Genetic Mutation Analysis of Parkinson’s Disease Patients Using Multigene Next-Generation Sequencing Panels

    Molecular Diagnosis and Therapy, Vol. 20, Núm. 5, pp. 481-491

2015

  1. GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment

    Journal of Human Genetics, Vol. 60, Núm. 10, pp. 637-640

  2. SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

    Human Molecular Genetics, Vol. 24, Núm. 24, pp. 7111-7120

  3. SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor

    ASN neuro, Vol. 7, Núm. 4

2014

  1. Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2

    Parkinsonism and Related Disorders, Vol. 20, Núm. 10, pp. 1097-1100

  2. Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic parkinson disease patients, and healthy controls

    Frontiers in Aging Neuroscience, Vol. 6, Núm. JUL

  3. Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2

    Movement Disorders, Vol. 29, Núm. 6, pp. 750-755

2013

  1. Genetic variability related to serum uric acid concentration and risk of Parkinson's disease

    Movement Disorders, Vol. 28, Núm. 12, pp. 1737-1740

  2. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406