Dentatorubral-pallidoluysian Atrophy
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Last Posted: Mar 06, 2023
- Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients.
Mongelli Alessia, et al. Neuroscience letters 2018 0 37-42 - The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.
Grimaldi Silvia, et al. Movement disorders : official journal of the Movement Disorder Society 2019 0 (12) 1919-1924 - Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim Minkyeong, et al. Parkinsonism & related disorders 2020 0 58-64 - Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz Raquel, et al. Neurology. Genetics 2022 0 (6) e200038 - Use of perampanel in children with refractory epilepsy of genetic aetiology.
Qu Rui, et al. Epileptic disorders : international epilepsy journal with videotape 2022 0 (4) 687-695 - Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.
Matsumura R, et al. Acta neurologica Scandinavica 2003 0 (1) 38-41 - Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review.
Novis Luiz Eduardo et al. Arquivos de neuro-psiquiatria 2020 Jul - Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.
Lai Kuan-Lin, et al. Parkinsonism & related disorders 2019 8 - Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.
Paradisi Irene, et al. Journal of human genetics 2015 11 - Dentatorubral-pallidoluysian atrophy
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
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