Cargando…
Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study
Hereditary spastic paraplegias are heterogeneous disorders with diversified clinical manifestations, and genetic testing is important for the diagnosis and typing of hereditary spastic paraplegias. Gene panel sequencing containing 55 hereditary spastic paraplegias-related genes was performed to scre...
Autores principales: | Cui, Fang, Sun, LiuQing, Qiao, Jie, Li, JianYong, Li, Mao, Chen, SiYu, Sun, Bo, Huang, XuSheng |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306340/ https://www.ncbi.nlm.nih.gov/pubmed/32501971 http://dx.doi.org/10.1097/MD.0000000000020193 |
Ejemplares similares
-
Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review
por: Richard, Sébastien, et al.
Publicado: (2017) -
Hereditary Spastic Paraplegia: An Update
por: Meyyazhagan, Arun, et al.
Publicado: (2022) -
Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy
por: Wang, Zhaoyu, et al.
Publicado: (2021) -
Lipids in the Physiopathology of Hereditary Spastic Paraplegias
por: Darios, Frédéric, et al.
Publicado: (2020) -
Movement disorders in hereditary spastic paraplegias
por: Pedroso, Jose Luiz, et al.
Publicado: (2023)