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Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
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Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis
Julia Pytte, Ryan S. Anderton, Loren L. Flynn, et al.

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Use of local genetic ancestry to assess TOMM40-523′ and risk for Alzheimer disease
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Psychometric properties of the Friedreich Ataxia Rating Scale
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October 29, 2019
Article
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
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October 30, 2019
Article
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation
Merel O. Mol, Jeroen G.J. van Rooij, Esther Brusse, et al.

March 23, 2020
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ALS in Danish RegistriesHeritability and links to psychiatric and cardiovascular disorders
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February 20, 2020
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.

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