Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
作者信息
Lamont Ryan, King Malcolm, King Alexandra, Schellenberg Kerri, Pfeffer Gerald
机构信息
Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1, Canada.
College of Medicine, University of Saskatchewan, Saskatoon, SK, S7N 5E5, Canada.
出版信息
Brain. 2024 May 3;147(5):e43-e44. doi: 10.1093/brain/awae052.
Abstract
摘要
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本文引用的文献
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Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada.
Genes (Basel). 2023 Aug 17;14(8):1634. doi: 10.3390/genes14081634.
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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050.
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Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect.
Neurol Genet. 2021 Jul 7;7(4):e607. doi: 10.1212/NXG.0000000000000607. eCollection 2021 Aug.
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Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women.
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