Associated Papers
Large-scale copy number variant analysis in genes linked to Parkinson´s disease.
Landoulsi Z et al.
Npj Parkinson's Disease, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.
Anis S et al.
Parkinsonism & Related Disorders, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.
Cotrin JC et al.
Metabolic Brain Disease, 2024
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.
Mutez E et al.
European Journal of Neurology, 2023
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.
Macías-García D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.
Millar Vernetti P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 2021
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
Robak LA et al.
Neurology. Genetics, 2020
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.
Kuusimäki T et al.
Journal of Neurology, 2020
A genetic analysis of a Spanish population with early onset Parkinson's disease.
Cristina TP et al.
Plos One, 2020
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Bandres-Ciga S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Parkin truncating variants result in a loss-of-function phenotype.
Santos M et al.
Scientific Reports, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Genetic background and outcome of Deep Brain Stimulation in Parkinson's disease.
Rizzone MG et al.
Parkinsonism & Related Disorders, 2019
LRRK2 impairs PINK1/Parkin-dependent mitophagy via its kinase activity: pathologic insights into Parkinson's disease.
Bonello F et al.
Human Molecular Genetics, 2019
HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease.
Menéndez-González M et al.
Neurobiology of Aging, 2019
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M et al.
Neurobiology of Aging, 2018
Parkin deficiency modulates NLRP3 inflammasome activation by attenuating an A20-dependent negative feedback loop.
Mouton-Liger F et al.
Glia, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.
Gautier CA et al.
Human Molecular Genetics, 2016
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.
Morais S et al.
Neurology. Genetics, 2016
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Bandrés-Ciga S et al.
Neurobiology of Aging, 2016
Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations.
Tijero B et al.
Parkinsonism & Related Disorders, 2015
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.
Pankratz N et al.
Neurology, 2009
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
Bras J et al.
Bmc Neurology, 2008
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.
Ferreira JJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
Foroud T et al.
Neurology, 2003
Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families.
Nichols WC et al.
Journal of Medical Genetics, 2002
Autosomal recessive juvenile parkinsonism: a key to understanding nigral degeneration in sporadic Parkinson's disease.
Hattori N et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2000
Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report.
Mendes Gomes LB et al.
Case Reports in Oncology, 0