Publications (138) JAVIER RUIZ MARTINEZ publications

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2025

  1. Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease

    Scientific Reports, Vol. 15, Núm. 1

  2. Device-aided therapies (DATs) in Parkinson's disease (PD). The DATs-PD GETM Spanish Registry Protocol Study

    PLoS ONE, Vol. 20, Núm. 3 March

  3. Dynamics of retinal changes in early-stage Parkinson's disease

    Acta neuropathologica communications, Vol. 13, Núm. 1, pp. 20

  4. Dysphagia in Parkinson´s disease. A 5-year follow-up study

    Neurological Sciences

  5. Heterogeneity of cognitive progression and clinical predictors in Parkinson’s disease–subjective cognitive decline

    Journal of Neurology, Vol. 272, Núm. 3

  6. Involvement of the Superior Cerebellar Peduncles in GAA- FGF14 Ataxia

    Neurology: Genetics, Vol. 11, Núm. 2

  7. LRRK2-associated parkinsonism with and without in vivo evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization

    Brain Communications, Vol. 7, Núm. 2

2024

  1. A potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells

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

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

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

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

    Movement Disorders

  4. Levodopa-Induced Dyskinesias are Frequent and Impact Quality of Life in Parkinson's Disease: A 5-Year Follow-Up Study

    Movement Disorders Clinical Practice, Vol. 11, Núm. 7, pp. 830-849

  5. Magnetic Resonance Imaging Measures to Track Atrophy Progression in Progressive Supranuclear Palsy in Clinical Trials

    Movement Disorders, Vol. 39, Núm. 8, pp. 1329-1342

  6. Neuronal alpha-Synuclein Disease integrated staging system performance in PPMI, PASADENA, and SPARK baseline cohorts

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

  7. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

    Brain, Vol. 147, Núm. 8, pp. 2652-2667

  8. Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype

    European Journal of Human Genetics, Vol. 32, Núm. 7, pp. 770-778

2023

  1. Changes in Principal Caregiver Mood Affects the Mood of the Parkinson's Disease Patient: The Vicious Cycle of Illness

    Journal of Parkinson's disease, Vol. 13, Núm. 2, pp. 219-231

  2. Cognitive impairment and dementia in young onset Parkinson’s disease

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5793-5812

  3. 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

  4. Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease

    npj Parkinson's Disease, Vol. 9, Núm. 1

  5. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

    Movement Disorders, Vol. 38, Núm. 2, pp. 286-303