Matthews E - Search Results

1

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG. Raja Rayan DL, et al. Among authors: matthews e. Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30. Neurology. 2012. PMID: 22649220 Free PMC article.

2

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias.

Ryan AM, Matthews E, Hanna MG. Ryan AM, et al. Among authors: matthews e. Curr Opin Neurol. 2007 Oct;20(5):558-63. doi: 10.1097/WCO.0b013e3282efc16c. Curr Opin Neurol. 2007. PMID: 17885445 Review.

3

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

Matthews E, Tan SV, Fialho D, Sweeney MG, Sud R, Haworth A, Stanley E, Cea G, Davis MB, Hanna MG. Matthews E, et al. Neurology. 2008 Jan 1;70(1):50-3. doi: 10.1212/01.wnl.0000287069.21162.94. Neurology. 2008. PMID: 18166706

4

Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.

Matthews E, Guet A, Mayer M, Vicart S, Pemble S, Sternberg D, Fontaine B, Hanna MG. Matthews E, et al. Neurology. 2008 Nov 18;71(21):1740-2. doi: 10.1212/01.wnl.0000335269.21550.0e. Neurology. 2008. PMID: 19015492 Free PMC article. No abstract available.

5

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. 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.

6

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

Rajakulendran S, Tan SV, Matthews E, Tomlinson SE, Labrum R, Sud R, Kullmann DM, Schorge S, Hanna MG. Rajakulendran S, et al. Among authors: matthews e. Neurology. 2009 Sep 22;73(12):993-5. doi: 10.1212/WNL.0b013e3181b87959. Neurology. 2009. PMID: 19770477 Free PMC article. No abstract available.

7

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG; CINCH Investigators. Matthews E, et al. Brain. 2010 Jan;133(Pt 1):9-22. doi: 10.1093/brain/awp294. Epub 2009 Nov 16. Brain. 2010. PMID: 19917643 Free PMC article. Review.

8

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

Matthews E, Hanna MG. Matthews E, et al. J Physiol. 2010 Jun 1;588(Pt 11):1879-86. doi: 10.1113/jphysiol.2009.186627. Epub 2010 Feb 1. J Physiol. 2010. PMID: 20123788 Free PMC article. Review.

9

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E. Forrest KM, et al. Among authors: matthews e. Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. Epub 2010 Dec 3. Neuromuscul Disord. 2011. PMID: 21130652

10

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.

Matthews E, Manzur AY, Sud R, Muntoni F, Hanna MG. Matthews E, et al. Arch Neurol. 2011 Jan;68(1):127-9. doi: 10.1001/archneurol.2010.347. Arch Neurol. 2011. PMID: 21220685

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