Genotype–Phenotype Correlations for ATX‐TBP (SCA17): MDSGene Systematic Review
Spinocerebellar ataxia type 17 or ATX‐TBP is a CAG/CAA repeat expansion disorder
characterized by marked clinical heterogeneity. Reports of affected carriers with …
characterized by marked clinical heterogeneity. Reports of affected carriers with …
The spinocerebellar ataxias: clinical aspects and molecular genetics
A Matilla-Dueñas, M Corral-Juan, V Volpini… - Neurodegenerative …, 2012 - Springer
Spinocerebellar ataxias (SCAs) are a highly heterogeneous group of inherited neurological
disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia …
disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia …
Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?
L Tremolizzo, NA Curtò, L Marzorati, F Lanzani… - Neurological …, 2011 - Springer
The SCA17 clinical phenotype includes characteristics associated with cerebellar and
cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features. Here …
cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features. Here …
[PDF][PDF] Genetics of the autosomal dominant spinocerebellar ataxias
M Corral-Juan, J Corral, H San Nicolás, V Volpini… - eLS, 2011 - academia.edu
The spinocerebellar ataxias (SCAs) are a clinically, genetically and neuropathologically
heterogeneous group of neurological disorders defined by variable degrees of cerebellar …
heterogeneous group of neurological disorders defined by variable degrees of cerebellar …
[PDF][PDF] THE SPINOCEREBELLAR ATAXIAS
A Matilla‑Dueñas, M Corral‑Juan, V Volpini, I Sanchez - researchgate.net
Spinocerebellar ataxias (SCAs) are a highly heterogeneous group of inherited neurological
disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia …
disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia …