Latest Articles

Subject

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

August 22, 2016
The Helix
Pub-Med-dot-com, here we come!
Stefan M. Pulst

August 18, 2016
Article
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)
Chantal Depondt, Simona Donatello, Myriam Rai, et al.

August 18, 2016
Clinical/Scientific Notes
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A
David S. Lynch, Nicholas W. Wood, Henry Houlden

August 16, 2016
Clinical/Scientific Notes
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome
Aravindhan Veerapandiyan, Amit Chaudhari, Christin M. Traba, et al.

August 16, 2016
Correction
Mutation of TBCK causes a rare recessive developmental disorder
August 04, 2016
Article
Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, et al.

August 04, 2016
Article
The Clinical Outcome Study for dysferlinopathyAn international multicenter study
Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, et al.

August 04, 2016
Editorial
Rare disease clinical trialsPower in numbers
Matthew P. Wicklund

August 04, 2016
Editorial
A new dawn for genetic association studies in multiple sclerosis
Orhun H. Kantarci

August 04, 2016

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