Cargando…
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2
BACKGROUND: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe. METHODS: Here...
Autores principales: | Bras, Jose, Guerreiro, Rita, Ribeiro, Maria, Morgadinho, Ana, Januario, Cristina, Dias, Margarida, Calado, Ana, Semedo, Cristina, Oliveira, Catarina, Hardy, John, Singleton, Andrew |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2248204/ https://www.ncbi.nlm.nih.gov/pubmed/18211709 http://dx.doi.org/10.1186/1471-2377-8-1 |
Ejemplares similares
-
Analysis of Nigerians with Apparently Sporadic Parkinson Disease for Mutations in LRRK2, PRKN and ATXN3
por: Okubadejo, Njideka, et al.
Publicado: (2008) -
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson’s Disease
por: Oczkowska, Anna, et al.
Publicado: (2013) -
Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort
por: Guerreiro, Rita J, et al.
Publicado: (2006) -
Systematic Functional Analysis of PINK1 and PRKN Coding Variants
por: Broadway, Benjamin J., et al.
Publicado: (2022) -
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism
por: Borsche, Max, et al.
Publicado: (2020)