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CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy-like Phenotype

Ramita Dewan,Zane Jaunmuktane,Monica Emili Garcia-Segura,Catherine Strand,Edward Wild, Joaquin Villar,Clifton L. Dalgard,Sarah J. Tabrizi,Bryan J. Traynor,Christos Proukakis

Movement disorders official journal of the Movement Disorder Society（2022）

引用 1|浏览5
关键词
Huntington's disease,PSP,CAG repeat,mosaicism,TDP-43,somatic instability
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