Jon Infante Ceberio-rekin lankidetzan egindako argitalpenak (38)

2024

  1. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

2023

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

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

  2. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

  3. Falls Predict Acute Hospitalization in Parkinson's Disease

    Journal of Parkinson's disease, Vol. 13, Núm. 1, pp. 105-124

2021

  1. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

  2. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, Núm. 1

  3. Identification of sixteen novel candidate genes for late onset Parkinson’s disease

    Molecular Neurodegeneration, Vol. 16, Núm. 1

  4. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

    Annals of Neurology, Vol. 90, Núm. 1, pp. 35-42

  5. Predictors of clinically significant quality of life impairment in Parkinson’s disease

    npj Parkinson's Disease, Vol. 7, Núm. 1

2020

  1. Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

    Brain, Vol. 143, Núm. 9, pp. 2771-2787

  2. Effects of Motor Symptom Laterality on Clinical Manifestations and Quality of Life in Parkinson's Disease

    Journal of Parkinson's Disease, Vol. 10, Núm. 4, pp. 1611-1620

  3. MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways

    Movement Disorders, Vol. 35, Núm. 10, pp. 1873-1879

  4. Non-motor symptom burden in patients with Parkinson’s disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort

    Scientific Reports, Vol. 10, Núm. 1

  5. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

    Nature Communications, Vol. 11, Núm. 1

  6. The impact of freezing of gait on functional dependency in Parkinson’s disease with regard to motor phenotype

    Neurological Sciences, Vol. 41, Núm. 10, pp. 2883-2892

2019

  1. COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015): an ongoing global Parkinson's disease project about disease progression with more than 1000 subjects included. Results from the baseline evaluation

    European Journal of Neurology, Vol. 26, Núm. 11, pp. 1399-1407

  2. High ultrasensitive serum C-reactive protein may be related to freezing of gait in Parkinson’s disease patients

    Journal of Neural Transmission, Vol. 126, Núm. 12, pp. 1599-1608

  3. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

    The Lancet Neurology, Vol. 18, Núm. 12, pp. 1091-1102

  4. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

    npj Parkinson's Disease, Vol. 5, Núm. 1

  5. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

    npj Parkinson's Disease, Vol. 5, Núm. 1