Publications by the researcher in collaboration with A. Gorostidi Pagola (29)

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

2017

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

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

  2. The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

    PLoS ONE, Vol. 12, Núm. 6

2016

  1. Assessing the role of TUBA4A gene in frontotemporal degeneration

    Neurobiology of Aging, Vol. 38, pp. 215.e13-215.e14

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

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

  3. 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

  4. Mutations in LRRK2 impair NF-ΚB pathway in iPSC-derived neurons

    Journal of Neuroinflammation, Vol. 13, Núm. 1

2015

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

    Brain

  2. MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium

    Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352

  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. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

    Neurobiology of Aging, Vol. 35, Núm. 2, pp. 444.e1-444.e4

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

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

  3. 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

  4. Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

    Neurobiology of Aging, Vol. 35, Núm. 11, pp. 2657.e13-2657.e19

  5. Leucine-rich repeat kinase 2 modulates cyclooxygenase 2 and the inflammatory response in idiopathic and genetic Parkinson's disease

    Neurobiology of Aging, Vol. 35, Núm. 5, pp. 1116-1124

  6. 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. 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

  2. The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway

    Cellular and Molecular Life Sciences, Vol. 70, Núm. 1, pp. 121-136

2012

  1. Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

    Human Genetics, Vol. 131, Núm. 3, pp. 435-442

  2. The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts

    Autophagy, Vol. 8, Núm. 10, pp. 1537-1539