- Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review
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Kuo CY, Yu PS, Chao CY, Wang CC, Fan WL, Wu YR
- KMID: 2542425
- J Mov Disord.
- 2023 May;16(2):202-206.
- doi: 10.14802/jmd.22105
Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene are associated with substantial clinical heterogeneity. Here, we report the first case of SYNE1 ataxia in Taiwan due to two... -
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- A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review
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Hsieh P, Yu PS, Fan WL, Wang C, Chao CY, Wu Y
- KMID: 2551216
- J Mov Disord.
- 2024 Jan;17(1):94-98.
- doi: 10.14802/jmd.23142
Tubulin beta 4A class IVa (TUBB4A) spectrum disorders include autosomal dominant dystonia type 4 or hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). However, in rare cases,... -
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- Association of AXIN1 With Parkinson’s Disease in a Taiwanese Population
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Fang HS, Chao CY, Wang CC, Fan WL, Huang PJ, Fung HC, Wu YR
- KMID: 2525086
- J Mov Disord.
- 2022 Jan;15(1):33-37.
- doi: 10.14802/jmd.21073
Objective A meta-analysis of locus-based genome-wide association studies recently identified a relationship between AXIN1 and Parkinson’s disease (PD). Few studies of Asian populations, however, have reported such a genetic association.... -
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