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Human Molecular Genetics|November 28, 2012
GLRB is the third major gene of effect in hyperekplexiaSeo-Kyung Chung, Anna Bode, Thomas D Cushion, et al.
Annals of Neurology|July 3, 2023
Do Early Relapses Predict the Risk of Long-Term Relapsing Disease in an Adult and Paediatric Cohort with MOGAD?Bo Chen, Enrique Gomez-Figueroa, Vyanka Redenbaugh, et al.
Scientific Reports|January 27, 2025
Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS-A multicentre case-control studyRajish S K Shil, Adam Seed, Nkongho Egbe Franklyn, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factorMaria Ban, An Goris, Aslaug R Lorentzen, et al.
Brain : a Journal of Neurology|December 20, 2021
Forecasting stroke-like episodes and outcomes in mitochondrial diseaseYi Shiau Ng, Nichola Z Lax, Alasdair P Blain, et al.
European Journal of Neurology|April 3, 2024
Real-world persistence of multiple sclerosis disease-modifying therapiesEmma C Tallantyre, Ruth Dobson, Joseph L J Froud, et al.
NPJ Genomic Medicine|September 28, 2023
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsyDelnaz Roshandel, Eric J Sanders, Amy Shakeshaft, et al.
The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.
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