Cargando…
A Case of Parkinson's Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin
Parkinson's disease (PD) is a clinical diagnosis based on the presence of cardinal motor signs, good response to levodopa, and no other explanations of the syndrome. Earlier diagnostic criteria required autopsy for a definite diagnosis based on neuronal loss in the substantia nigra pars compact...
Autores principales: | Johansen, Krisztina Kunszt, Torp, Sverre Helge, Farrer, Matthew J., Gustavsson, Emil K., Aasly, Jan O. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046180/ https://www.ncbi.nlm.nih.gov/pubmed/30050705 http://dx.doi.org/10.1155/2018/6838965 |
Ejemplares similares
-
Progressive Multifocal Leukoencephalopathy in an Immunocompetent Patient?
por: Johansen, Krisztina K., et al.
Publicado: (2013) -
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
por: Elfferich, Peter, et al.
Publicado: (2011) -
Parkin Disease and the Lewy Body Conundrum
por: Doherty, Karen M, et al.
Publicado: (2013) -
Genetic association study of synphilin-1 in idiopathic Parkinson's disease
por: Myhre, Ronny, et al.
Publicado: (2008) -
Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
por: Bigio, Benedetta, et al.
Publicado: (2021)