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Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk
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Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy
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December 18, 2017
Clinical/Scientific Notes
Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome
Hugo Botha, NiCole A. Finch, Ralitza H. Gavrilova, et al.

December 12, 2017
Article
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
Angela J. Lee, Karra A. Jones, Russell J. Butterfield, et al.

March 01, 2019
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Expanding the global prevalence of spinocerebellar ataxia type 42
Kathie Ngo, Mamdouh Aker, Lauren E. Petty, et al.

April 05, 2018
Article
Genomic variation in educational attainment modifies Alzheimer disease risk
Neha S. Raghavan, Badri Vardarajan, Richard Mayeux

February 11, 2019
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KCNQ2 encephalopathyFeatures, mutational hot spots, and ezogabine treatment of 11 patients
John J. Millichap, Kristen L. Park, Tammy Tsuchida, et al.

August 22, 2016
Article
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, et al.

March 07, 2019

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