Publikationen, an denen er mitarbeitet JAVIER RUIZ MARTINEZ (36)

2024

  1. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders

2023

  1. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

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

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

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

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. Clinical correlations with lewy body pathology in LRRK2-related Parkinson disease

    JAMA Neurology, Vol. 72, Núm. 1, pp. 100-105

  2. 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. 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

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. α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

    PLoS ONE, Vol. 7, Núm. 12

2011

  1. Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations

    Movement Disorders, Vol. 26, Núm. 11, pp. 2026-2031

  2. Parkinsonismo inducido por sulpiride y veralipride: dos historias diferentes

    Medicina Clinica