Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: Trunk tremor, myoclonus, and dystonia
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Geriatrics and Gerontology,Neurology
Reference12 articles.
1. Myoclonus and myoclonus-dystonias;Klein,2003
2. Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus-dystonia syndrome;Zimprich;Nat Genet,2001
3. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter;Yamashita;Ann Neurol,2000
4. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population;Verbeek;Hum Genet,2005
5. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype;Vlak;Mov Disord,2006
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1. Tremor in Spinocerebellar Ataxia: A Scoping Review;Tremor and Other Hyperkinetic Movements;2024
2. The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list;Parkinsonism & Related Disorders;2023-12
3. Two Cases of Monozygotic Twins with Early-onset Isolated (DYT1) Dystonia Effectively Treated with Bilateral Globus Pallidus Internus Stimulation;NMC Case Report Journal;2022-12-31
4. The first family case of spinocerebellar ataxia type 14 in Russia;Neuromuscular Diseases;2022-09-21
5. Pearls & Oy-sters: SCA21 Due toTMEM240Variation Presenting as Myoclonus Dystonia Syndrome;Neurology;2022-07-08
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