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BackgroundThe Parkinson's Progression Marker Initiative is an international multicenter study whose main goal is investigating markers for Parkinson's disease (PD) progression as part of a path to a treatment for the disease. This manuscript describes the baseline genetic architecture of this study, providing not only a catalog of disease‐linked variants and mutations, but also quantitative measures...
BackgroundFriedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late‐onset Friedreich's ataxia and very‐late‐onset Friedreich's ataxia, occurring after 25 and 40 years, respectively. We describe the clinical, functional, and molecular findings from a large series of late‐onset Friedreich's ataxia and very‐late‐onset Friedreich's ataxia and compare them...
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