Cargando…
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson’s study
Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognized risk factor for Parkinson’s disease (PD). Due to the GBAP1 pseudogene, which shares 96% sequence homology with the GBA1 coding region, accurate variant calling by array-based or short-read sequencing methods rem...
Autores principales: | Pachchek, Sinthuja, Landoulsi, Zied, Pavelka, Lukas, Schulte, Claudia, Buena-Atienza, Elena, Gross, Caspar, Hauser, Ann-Kathrin, Reddy Bobbili, Dheeraj, Casadei, Nicolas, May, Patrick, Krüger, Rejko |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667262/ https://www.ncbi.nlm.nih.gov/pubmed/37996455 http://dx.doi.org/10.1038/s41531-023-00595-w |
Ejemplares similares
-
Body-First Subtype of Parkinson’s Disease with Probable REM-Sleep Behavior Disorder Is Associated with Non-Motor Dominant Phenotype
por: Pavelka, Lukas, et al.
Publicado: (2022) -
GBA-associated PD: chances and obstacles for targeted treatment strategies
por: Höglinger, Günter, et al.
Publicado: (2022) -
Age at onset as stratifier in idiopathic Parkinson’s disease – effect of ageing and polygenic risk score on clinical phenotypes
por: Pavelka, L., et al.
Publicado: (2022) -
Publisher Correction: Age at onset as stratifier in idiopathic Parkinson’s disease – effect of ageing and polygenic risk score on clinical phenotypes
por: Pavelka, L., et al.
Publicado: (2022) -
Occurrence and Distribution of Pharmaceuticals and
Their Transformation Products in Luxembourgish Surface Waters
por: Singh, Randolph R., et al.
Publicado: (2021)