- Tytuł:
- Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis.
- Autorzy:
- Źródło:
- Acta neurologica Scandinavica [Acta Neurol Scand] 2005 Jun; Vol. 111 (6), pp. 391-9.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Genes, Dominant*
Cerebellar Ataxia /*epidemiologyCerebellar Ataxia /*genetics
Chromosome Disorders/*epidemiology
Chromosome Disorders/*genetics
Adolescent ; Adult ; Central Nervous System/pathology ; Central Nervous System/physiopathology ;Cerebellar Ataxia /diagnosis ; Child ; Child, Preschool ; Chromosome Disorders/diagnosis ; DNA Mutational Analysis ; Female ; Genetic Testing ; Genetic Variation/genetics ; Genotype ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Ocular Motility Disorders/genetics ; Phenotype ; Prevalence ; Pyramidal Tracts/physiopathology ; Reflex, Abnormal/genetics ; Retinal Degeneration/genetics ; Spain/epidemiology ; Survival Analysis ; Trinucleotide Repeat Expansion
Czasopismo naukowe