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Beekeeper Parkinsonism.
Hobson DE, Del Bigio MR. Hobson DE, et al. Among authors: del bigio mr. Mov Disord. 2022 Jul;37(7):1573-1574. doi: 10.1002/mds.29076. Epub 2022 May 31. Mov Disord. 2022. PMID: 35638319 No abstract available.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sleiman S, Marshall AE, Dong X, Mhanni A, Alidou-D'Anjou I, Frosk P, Marin SE, Stark Z, Del Bigio MR, McBride A, Sadedin S, Gallacher L; Care4Rare Canada Consortium; Christodoulou J, Boycott KM, Dragon F, Kernohan KD. Sleiman S, et al. Among authors: del bigio mr. Hum Mol Genet. 2022 Feb 21;31(4):614-624. doi: 10.1093/hmg/ddab247. Hum Mol Genet. 2022. PMID: 34542157
253 results