Cargando…
Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis
OBJECTIVE: As structural variations may underpin susceptibility to complex neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), the objective of this study was to investigate a structural variant (SV) within sequestosome 1 (SQSTM1). METHODS: A candidate insertion/deletion variant...
Autores principales: | Pytte, Julia, Anderton, Ryan S., Flynn, Loren L., Theunissen, Frances, Jiang, Leanne, Pitout, Ianthe, James, Ian, Mastaglia, Frank L., Saunders, Ann M., Bedlack, Richard, Siddique, Teepu, Siddique, Nailah, Akkari, P. Anthony |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061286/ https://www.ncbi.nlm.nih.gov/pubmed/32185242 http://dx.doi.org/10.1212/NXG.0000000000000406 |
Ejemplares similares
-
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort
por: Pytte, Julia, et al.
Publicado: (2020) -
Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?
por: Roberts, Bradley, et al.
Publicado: (2022) -
Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype
por: Theunissen, Frances, et al.
Publicado: (2021) -
Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset
por: Theunissen, Frances, et al.
Publicado: (2022) -
Macular sub-layer thinning and association with pulmonary function tests in Amyotrophic Lateral Sclerosis
por: Simonett, Joseph M., et al.
Publicado: (2016)