Méneret, Aurélie
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. [electronic resource]
- Neurology Sep 2014
- 1087-95 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1526-632X
10.1212/WNL.0000000000000794 doi
Adult
Age of Onset
Ataxia Telangiectasia--epidemiology
Ataxia Telangiectasia Mutated Proteins--genetics
Chromosomal Instability--genetics
Cohort Studies
Disease Progression
Dysarthria--genetics
Dystonia--genetics
Eye Movement Measurements
Female
Genetic Pleiotropy
Humans
Immunoglobulins--deficiency
Male
Mobility Limitation
Movement Disorders--genetics
Mutation, Missense
Myoclonus--genetics
Ocular Motility Disorders--genetics
Phenotype
Severity of Illness Index
Young Adult
alpha-Fetoproteins