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Year in Review.

作者信息

Pulst Stefan, Pandolfo Massimo, Roos Raymond, Milone Margherita, Jayadev Suman

机构信息

Department of Neurology, University of Utah (S.M.P.), Salt Lake City; Université Libre de Bruxelles - Hôpital Erasme (M.P.), Bruxelles, Belgium; University of Chicago Medical Center (R.R.), Chicago, IL; Mayo Clinic (M.M.), Rochester, MN; University of Washington, (S.J.) Seattle, WA.

出版信息

Neurol Genet. 2021 Feb 5;7(1):e556. doi: 10.1212/NXG.0000000000000556. eCollection 2021 Feb.

Abstract
摘要

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本文引用的文献

1
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19.
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Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan.
Neurol Genet. 2020 Sep 8;6(5):e506. doi: 10.1212/NXG.0000000000000506. eCollection 2020 Oct.
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Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
Neurol Genet. 2020 Sep 4;6(5):e513. doi: 10.1212/NXG.0000000000000513. eCollection 2020 Oct.
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Genome-wide association study identifies 48 common genetic variants associated with handedness.
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Disease-modifying effects of an structural variant in a predominantly ALS cohort.
Neurol Genet. 2020 Jul 1;6(4):e470. doi: 10.1212/NXG.0000000000000470. eCollection 2020 Aug.
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Prevalence of -mediated spinocerebellar ataxia in a North American ataxia cohort.
Neurol Genet. 2020 May 20;6(3):e440. doi: 10.1212/NXG.0000000000000440. eCollection 2020 Jun.
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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4.
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Association of a structural variant within the gene with amyotrophic lateral sclerosis.
Neurol Genet. 2020 Feb 27;6(2):e406. doi: 10.1212/NXG.0000000000000406. eCollection 2020 Apr.
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A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis.
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