Latest Articles

Subject

Article
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
Willem De Ridder, Isabelle Nelson, Bob Asselbergh, et al.

April 01, 2019
Views and Reviews
Antisense oligonucleotidesA primer
Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst

April 01, 2019
Article
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.

March 25, 2019
Clinical/Scientific Notes
Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, et al.

March 25, 2019
Article
Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
Jay P. Ross, Claire S. Leblond, Hélène Catoire, et al.

March 20, 2019
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

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