A Haworth
University College London
20 Papers
33 Citations
A Haworth is an academic researcher from University College London. The author has contributed to research in topics: Myotonia & Myotonia congenita. The author has an hindex of 10, co-authored 19 publications.
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Papers
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
Davina J. Hensman Moss,Mark Poulter,Jon Beck,Jason Hehir,James M. Polke,Tracy Campbell,Garry Adamson,Ese E. Mudanohwo,Peter McColgan,A Haworth,Edward J. Wild,Mary G. Sweeney,Henry Houlden,Simon Mead,Sarah J. Tabrizi +14 more
TL;DR: The known phenotype of the C9orf72 expansion is extended in both age at onset and movement disorder symptoms, and a revised clinico-genetic algorithm is proposed for the investigation of HD phenocopy patients based on these data.
Prevalence study of genetically defined skeletal muscle channelopathies in England
Alejandro Horga,Dipa L. Raja Rayan,Emma Matthews,Richa Sud,Doreen Fialho,S. Durran,J. Burge,Simona Portaro,Mary B. Davis,A Haworth,Michael G. Hanna +10 more
TL;DR: The overall prevalence of genetically defined skeletal muscle channelopathies in England is described for the first time, despite the large variety of mutations observed in patients with nondystrophic myotonia and ATS.
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Refined Exercise testing can aid DNA-based Diagnosis in Muscle Channelopathies
S. Veronica Tan,S. Veronica Tan,Emma Matthews,Melissa Barber,J. Burge,Sanjeev Rajakulendran,Doreen Fialho,Richa Sud,A Haworth,Martin Koltzenburg,Michael G. Hanna +10 more
TL;DR: To improve the accuracy of genotype prediction and guide genetic testing in patients with muscle channelopathies, specialized electrophysiological exercise test parameters were applied and refined.
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype
Emma Matthews,Simona Portaro,Qing Ke,Richa Sud,A Haworth,Mary B. Davis,Robert C. Griggs,Michael G. Hanna +7 more
TL;DR: Evidence supporting a relationship between genotype and treatment response is found, indicating that only approximately 50% of genotyped patients with hypokalemic periodic paralysis respond to acetazolamide.
104
What causes paramyotonia in the United Kingdom?: Common and new SCN4A mutations revealed
Emma Matthews,S.V. Tan,Doreen Fialho,Mary G. Sweeney,Richa Sud,A Haworth,E. Stanley,Gabriel Cea,Mary B. Davis,Michael G. Hanna +9 more
TL;DR: This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity.
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