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The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.
Kamm C, Healy DG, Quinn NP, Wüllner U, Moller JC, Schols L, Geser F, Burk K, Børglum AD, Pellecchia MT, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK, Wood NW, Gasser T; European Multiple System Atrophy Study Group. Kamm C, et al. Among authors: haworth a. Brain. 2005 Aug;128(Pt 8):1855-60. doi: 10.1093/brain/awh535. Epub 2005 Jun 9. Brain. 2005. PMID: 15947063
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ. Hensman Moss DJ, et al. Among authors: haworth a. Neurology. 2014 Jan 28;82(4):292-9. doi: 10.1212/WNL.0000000000000061. Epub 2013 Dec 20. Neurology. 2014. PMID: 24363131 Free PMC article.
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG. Fialho D, et al. Among authors: haworth a. Brain. 2007 Dec;130(Pt 12):3265-74. doi: 10.1093/brain/awm248. Epub 2007 Oct 11. Brain. 2007. PMID: 17932099
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG. Matthews E, et al. Among authors: haworth a. Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31. Neurology. 2009. PMID: 19118277 Free PMC article.
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG. Horga A, et al. Among authors: haworth a. Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20. Neurology. 2013. PMID: 23516313 Free PMC article.
231 results