Publikationen in Zusammenarbeit mit Forschern von Universidad del País Vasco/Euskal Herriko Unibertsitatea (21)

2024

  1. Association of retinal neurodegeneration with the progression of cognitive decline in Parkinson’s disease

    npj Parkinson's Disease, Vol. 10, Núm. 1

2022

  1. Defects of Nutrient Signaling and Autophagy in Neurodegeneration

    Frontiers in Cell and Developmental Biology, Vol. 10

  2. Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement

    iScience, Vol. 25, Núm. 6

2020

  1. Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease

    Aging, Vol. 12, Núm. 17, pp. 16690-16708

2018

  1. Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation

    Molecular Neurodegeneration, Vol. 13, Núm. 1

2017

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

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

  2. Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

    Neurology: Genetics, Vol. 3, Núm. 5

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. Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations

    Parkinsonism and Related Disorders, Vol. 21, Núm. 7, pp. 717-722

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

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

  3. Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease a pooled analysis

    JAMA Neurology, Vol. 72, Núm. 1, pp. 58-65

  4. 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

  5. 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. Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the α synuclein gene

    Parkinsonism and Related Disorders, Vol. 19, Núm. 1, pp. 95-100

  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

2010

  1. Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the α-synuclein gene (SNCA)

    Clinical Autonomic Research, Vol. 20, Núm. 4, pp. 267-269