Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Emma Matthews, Robyn Labrum, Mary G. Sweeney, +8

Neurology

Prevalence study of genetically defined skeletal muscle channelopathies in England

Alejandro Horga, D.L. Raja Rayan, Emma Matthews, +8

Neurology

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions

Doreen Fialho, Stéphanie Schorge, U. Pucovska, +9

Brain

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

Emma Matthews, Simona Portaro, Richa Sud, +4

Neurology

Refined exercise testing can aid dna‐based diagnosis in muscle channelopathies

S. Veronica Tan, Emma Matthews, Melissa Barber, +7

Annals of Neurology

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

Roope Männikkö, Leonie C.H. Wong, David J. Tester, +18

The Lancet

What causes paramyotonia in the United Kingdom?

Emma Matthews, S. Veronica Tan, Doreen Fialho, +7

Neurology

Atypical periodic paralysis and myalgia

Emma Matthews, Christoph Neuwirth, Fatima Jaffer, +17

Neurology

Caprin-1 is a target of the deafness gene<i>Pou4f3</i>and is recruited to stress granules in cochlear hair cells in response to ototoxic damage

Emily R. Towers, John J. Kelly, Richa Sud, +2

Journal of Cell Science

Molecular RegulationGeneticsMolecular BiologyStress Granule FormationCellular Physiology +22

Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity

R. Lee Clough, Richa Sud, Noa Davis-Silberman, +4

Biochemical and Biophysical Research Communications

Transcriptional RegulationCell SignalingGene RegulationGene FunctionTranscription Factors +5