Author:
Tunc Sinem,Dulovic-Mahlow Marija,Baumann Hauke,Baaske Magdalena Khira,Jahn Magdalena,Junker Johanna,Münchau Alexander,Brüggemann Norbert,Lohmann Katja
Funder
Deutsche Forschungsgemeinschaft
H2020 European Research Council
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Reference15 articles.
1. Brussino A, Brusco A, Durr A, Mancini C. Spinocerebellar ataxia type 28. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA); University of Washington, Seattle. 2018;1993-2019 . Available from:
https://www.ncbi.nlm.nih.gov/books/NBK54582/
2. Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, et al. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain. 2006;129(Pt 1):235–42.
3. Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, et al. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat. 2010;31(10):1117–24.
4. Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010;42(4):313–21.
5. Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, et al. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain. 2017;140(6):1579–94.
Cited by
16 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献