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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: schorge s. Brain. 2007 Dec;130(Pt 12):3265-74. doi: 10.1093/brain/awm248. Epub 2007 Oct 11. Brain. 2007. PMID: 17932099
Episodic ataxia type 1: a neuronal potassium channelopathy.
Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Rajakulendran S, et al. Among authors: schorge s. Neurotherapeutics. 2007 Apr;4(2):258-66. doi: 10.1016/j.nurt.2007.01.010. Neurotherapeutics. 2007. PMID: 17395136 Free article. Review.
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: schorge s. 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.
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.
Labrum RW, Rajakulendran S, Graves TD, Eunson LH, Bevan R, Sweeney MG, Hammans SR, Tubridy N, Britton T, Carr LJ, Ostergaard JR, Kennedy CR, Al-Memar A, Kullmann DM, Schorge S, Temple K, Davis MB, Hanna MG. Labrum RW, et al. Among authors: schorge s. J Med Genet. 2009 Nov;46(11):786-91. doi: 10.1136/jmg.2009.067967. Epub 2009 Jul 7. J Med Genet. 2009. PMID: 19586927
76 results