Abstract Background JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well‐recognized neurological...
Elena Ardila Jurado, Koustubh Bavdhankar, Divyani Garg et al.· Movement Disorders Clinical...· 0 citations
OBJECTIVE
The objective of this study was to determine whether genetic ancestry is associated with differences in the clinical course of multiple sclerosis (MS).
METHODS
Participants with MS living in the United Kingdom >18 years old were recruited from 2021 to 2025 and genotyped from saliva using a commercial array....
B. Jacobs, E. Tregaskis-Daniels, L. Schalk et al.· Annals of Neurology· 0 citations
Abstract Motivation Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations. While genotyping arrays offer a cost-effective approach for CNV detection using Log R Ratio (LRR) and B Allele Frequency (BAF) signals, existing independe...
Nicole Kuznetsov, Kensuke Daida, M. Makarious et al.· Bioinformatics Advances· 0 citations
It is shown that LRRK2 G2019S has an effect during lysosomal damage through kinase-dependent and kinase-independent mechanisms, and isogenic induced pluripotent stem cells from patients carrying the LRRK2 G2019S variant confirmed that LRRK2 G2019S macrophages are more susceptible to cell death in a kinase-independent m...
Rebecca Morrison, Simeon R. Mihaylov, Chak-Hon Luk et al.· Journal of Cell Science· 1 citation
Young onset, less parkinsonism and more cognitive and cortical sensory impairment, along with reduced MRI parietal volumes point to CBS-AD, while limb dystonia, falls and worse verbal fluency relate to CBS-non-AD.
D. Vaughan, M. T. Jensen, R. Real et al.· Brain : a journal of neurolo...· 0 citations
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