Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

K Nuytemans, J Theuns, M Cruts… - Human …, 2010 - Wiley Online Library
To date, molecular genetic analyses have identified over 500 distinct DNA variants in five
disease genes associated with familial Parkinson disease; α‐synuclein (SNCA), parkin …

[HTML][HTML] Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

C Simpson, L Vinikoor-Imler, FL Nassan… - Parkinsonism & Related …, 2022 - Elsevier
Introduction Variants in the leucine-rich repeat kinase 2 gene (LRRK2) are risk factors for
Parkinson's disease (PD), but their prevalence varies geographically, reflecting the locations …

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease …

S Smolders, C Van Broeckhoven - Acta neuropathologica communications, 2020 - Springer
Parkinson's disease (PD) and atypical parkinsonian syndromes (APS) are symptomatically
characterized by parkinsonism, with the latter presenting additionally a distinctive range of …

Modelling Parkinson's disease: iPSCs towards better understanding of human pathology

S Avazzadeh, JM Baena, C Keighron… - Brain Sciences, 2021 - mdpi.com
Parkinson's Disease (PD) is a chronic neurodegenerative disorder characterized by motor
and non-motor symptoms, among which are bradykinesia, rigidity, tremor as well as mental …

[HTML][HTML] Informe de la Fundación del Cerebro sobre el impacto social de la enfermedad de Parkinson en España

R García-Ramos, EL Valdés, L Ballesteros, S Jesús… - Neurología, 2016 - Elsevier
Introducción Conocer el alcance socieoeconómico de la enfermedad de Parkinson es
esencial para la planificación de recursos y concienciación social. Desarrollo Se ha …

The genetic architecture of Parkinson disease in Spain: characterizing population‐specific risk, differential haplotype structures, and providing etiologic insight

S Bandres‐Ciga, S Ahmed, MS Sabir… - Movement …, 2019 - Wiley Online Library
Abstract Background The Iberian Peninsula stands out as having variable levels of
population admixture and isolation, making Spain an interesting setting for studying the …

Serum lipid profile among sporadic and familial forms of Parkinson's disease

D Macías-García, MT Periñán… - npj Parkinson's …, 2021 - nature.com
Brain cholesterol metabolism has been described as altered in Parkinson's disease (PD)
patients. Serum lipid levels have been widely studied in PD with controversial results among …

Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk

O Goldstein, M Gana-Weisz, S Banfi, V Nigro… - Molecular Genetics and …, 2023 - Elsevier
Objectives VPS35 and VPS13 have been associated with Parkinson's disease (PD), and
their shared phenotype in yeast when reduced in function is abnormal vacuolar transport …

Overview of the impact of pathogenic LRRK2 mutations in Parkinson's Disease

G Ito, N Utsunomiya-Tate - Biomolecules, 2023 - mdpi.com
Leucine-rich repeat kinase 2 (LRRK2) is a large protein kinase that physiologically
phosphorylates and regulates the function of several Rab proteins. LRRK2 is genetically …

[HTML][HTML] The social impact of Parkinson's disease in Spain: Report by the Spanish Foundation for the Brain

R García-Ramos, EL Valdés, L Ballesteros… - Neurología (English …, 2016 - Elsevier
Introduction Understanding the social and economic impact of Parkinson's disease is
essential for resource planning and raising social awareness. Development Researchers …