GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders
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DOI: 10.1002/ana.26325
Abstract: CGG/GGC repeat expansion in FMR1 and NOTCH2NLC is reportedly associated with movement disorders; therefore, we hypothesized that the CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1, which was previously identified in myopathy, might also be… read more here.
Keywords: repeat expansion; movement disorders; associated movement; repeat ... See more keywords
Both subthalamic and pallidal deep brain stimulation are effective for GNAO1-associated dystonia: three case reports and a literature review
Sign Up to like & getrecommendations! Published in 2022 at "Therapeutic Advances in Neurological Disorders"
DOI: 10.1177/17562864221093507
Abstract: Background: Mutations in the G-protein subunit alpha o1 (GNAO1) gene have recently been shown to be involved in the pathogenesis of early infantile epileptic encephalopathy and movement disorders. The clinical manifestations of GNAO1-associated movement disorders… read more here.
Keywords: movement disorders; deep brain; associated movement; gnao1 associated ... See more keywords