Articles tagged "Spinocerebellar ataxias(SCA)"

2016 International Congress
Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample
T. Schmitz-Hübsch, S. Lux, A.U. Brandt, P. Bauer, E. Schlapakow, S. Greschus, H. Gärtner, M.E. Kirlangic, V. Gras, D. Timmann, M. Synofzik, N. Shah, L. Schöls, U. Kopp, T. Oberwahrenbrock, H. Zimmermann, C. Pfueller, E.M. Kadas, M. Rönnefarth, A. Grosch, M. Endres, T. Klockgether, K. Amunts, F. Paul, S. Doss, M. Minnerop (Berlin, Germany)
Objective: To give a concise description of clinical and imaging features of spinocerebellar ataxia type 14 (SCA14). Background: Since its genetic definition in 2003, the…
2016 International Congress
Huntington disease phenocopies or misdiagnosis: A black South African cohort
F.K. Baine, A. Krause (Johannesburg, South Africa)
Objective: To investigate the occurrence of phenocopy mutations in a cohort of black South African individuals referred to the National Health Laboratory Service (NHLS) for…