Latest Articles

Subject

Clinical/Scientific Notes
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
Cecilia Marelli, Christian Hamel, Melanie Quiles, et al.

March 20, 2018
Clinical/Scientific Notes
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, et al.

March 19, 2018
The Helix
2017 Year in Review and Message from the Editors to Our Reviewers
Stefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, et al.

February 20, 2018
Article
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
Gloria T. Haskell, Michael C. Adams, Zheng Fan, et al.

February 01, 2018
Article
CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
Andréa L. Benedet, Lei Yu, Aurélie Labbe, et al.

January 30, 2018
Article
Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, et al.

January 30, 2018
Article
Duplications at 19q13.33 in patients with neurodevelopmental disorders
Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, et al.

January 29, 2018
Clinical/Scientific Notes
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
Sarah Camargos, Rita Guerreiro, Jose Bras, et al.

January 26, 2018
Clinical/Scientific Notes
Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
Ricardo H. Roda, Brett A. McCray, Christopher J. Klein, et al.

January 24, 2018
Clinical/Scientific Notes
Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, et al.

January 24, 2018

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