Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7.
Bauer
Peter
P
Kraus
Josef
J
Matoska
Vaclav
V
Brouckova
Martina
M
Zumrova
Alena
A
Goetz
Petr
P
D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D004594:Electrophysiology / Q000379:methods; D005074:Evoked Potentials, Visual / Q000502:physiology; D005192:Family Health; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*