Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. [electronic resource]
Producer: 20150217Description: 1554-61 p. digitalISSN:- 1526-632X
- Adult
- Age of Onset
- Brain -- pathology
- Cohort Studies
- Endoplasmic Reticulum -- metabolism
- Family Health
- Female
- HEK293 Cells -- metabolism
- Humans
- Intellectual Disability -- etiology
- Machado-Joseph Disease -- genetics
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mitochondria -- metabolism
- Mutation, Missense -- genetics
- Taiwan
- Torticollis -- etiology
- Transfection
- Transglutaminases -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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