A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
Teije H van ProoijeMaartje PenningsLucille DorresteijnThatjana GardeitchikVincent J J OdekerkenMayke OosterlooAnnie PedersenCorien C Verschuuren-BemelmansAlexander VranckenErik-Jan KamsteegBart P C van de WarrenburgPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
alleles was relatively frequent and associated with marked cognitive defects (28.5%), suggesting a modifying effect on clinical expression in some cases. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Keyphrases