Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up
Author:
Funder
National Key R&D Program of China, Precision Medicine Program
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-020-10246-2.pdf
Reference20 articles.
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2. Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR (1998) Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 62(3):633–640. https://doi.org/10.1086/301769
3. Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74(6):1128–1135. https://doi.org/10.1086/421054
4. Avemaria F, Lunetta C, Tarlarini C, Mosca L, Maestri E, Marocchi A, Melazzini M, Penco S, Corbo M (2011) Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression. Amyotroph Lateral Scler 12(3):228–230
5. Rudnik-Schöneborn S, Arning L, Epplen JT, Zerres K (2012) SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. Neuromuscul Disord 22(3):258–262. https://doi.org/10.1016/j.nmd.2011.09.006
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