Guo, Yuh-Cherng

Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. [electronic resource] - Neurology Oct 2014 - 1554-61 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/WNL.0000000000000909 doi


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