Latest Articles

Subject

Editorial
Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization
Sara Bandres-Ciga, Faraz Faghri

March 07, 2019
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
Clinical/Scientific Notes
Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, et al.

March 06, 2019
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
The Helix
2018: Year in Review and Message from the Editors to Our Reviewers
Stefan M. Pulst, Raymond P. Roos, Alexandra Durr, et al.

February 14, 2019
Article
Genomic variation in educational attainment modifies Alzheimer disease risk
Neha S. Raghavan, Badri Vardarajan, Richard Mayeux

February 11, 2019
Correction
The complex structure of ATXN2 genetic variation
February 04, 2019
Views & Reviews
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
Kathleen J. Sweadner, Elena Arystarkhova, John T. Penniston, et al.

February 04, 2019
Article
Copy number variation of LINGO1 in familial dystonic tremor
Vafa Alakbarzade, Thomas Iype, Barry A. Chioza, et al.

February 04, 2019
Article
GNE genotype explains 20% of phenotypic variability in GNE myopathy
Oksana Pogoryelova, Ian J. Wilson, Hank Mansbach, et al.

February 01, 2019

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