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Results: 1 to 20 of 102

1.

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.

Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, Takahashi MP.

Hum Mutat. 2011 Jul;32(7):773-82. doi: 10.1002/humu.21501. Epub 2011 Apr 28.

PMID:
21412952
[PubMed - indexed for MEDLINE]
2.

A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.

Wu FF, Gordon E, Hoffman EP, Cannon SC.

J Physiol. 2005 Jun 1;565(Pt 2):371-80. Epub 2005 Mar 17.

PMID:
15774523
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.

Kokunai Y, Goto K, Kubota T, Fukuoka T, Sakoda S, Ibi T, Doyu M, Mochizuki H, Sahashi K, Takahashi MP.

Neurosci Lett. 2012 Jun 21;519(1):67-72. doi: 10.1016/j.neulet.2012.05.023. Epub 2012 May 14.

PMID:
22617007
[PubMed - indexed for MEDLINE]
4.

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium.

Brain. 2013 Jul;136(Pt 7):2189-200. doi: 10.1093/brain/awt133. Epub 2013 Jun 13.

PMID:
23771340
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.

Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y.

J Neurol Sci. 2012 Apr 15;315(1-2):15-9. doi: 10.1016/j.jns.2011.12.015. Epub 2012 Jan 16.

PMID:
22257501
[PubMed - indexed for MEDLINE]
6.

Splicing of a divergent subclass of AT-AC introns requires the major spliceosomal snRNAs.

Wu Q, Krainer AR.

RNA. 1997 Jun;3(6):586-601.

PMID:
9174094
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.

Wu FF, Takahashi MP, Pegoraro E, Angelini C, Colleselli P, Cannon SC, Hoffman EP.

Neurology. 2001 Apr 10;56(7):878-84.

PMID:
11294924
[PubMed - indexed for MEDLINE]
8.

A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.

Petitprez S, Tiab L, Chen L, Kappeler L, Rösler KM, Schorderet D, Abriel H, Burgunder JM.

Neurology. 2008 Nov 18;71(21):1669-75. doi: 10.1212/01.wnl.0000335168.86248.55.

PMID:
19015483
[PubMed - indexed for MEDLINE]
9.

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

Bouhours M, Sternberg D, Davoine CS, Ferrer X, Willer JC, Fontaine B, Tabti N.

J Physiol. 2004 Feb 1;554(Pt 3):635-47. Epub 2003 Nov 14.

PMID:
14617673
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A novel SCN4A mutation causing myotonia aggravated by cold and potassium.

Heine R, Pika U, Lehmann-Horn F.

Hum Mol Genet. 1993 Sep;2(9):1349-53.

PMID:
8242056
[PubMed - indexed for MEDLINE]
11.

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.

Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20.

PMID:
23516313
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.

Simkin D, Léna I, Landrieu P, Lion-François L, Sternberg D, Fontaine B, Bendahhou S.

J Physiol. 2011 Jul 1;589(Pt 13):3115-24. doi: 10.1113/jphysiol.2011.207977. Epub 2011 Apr 26.

PMID:
21521764
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis.

Hayward LJ, Brown RH Jr, Cannon SC.

Biophys J. 1997 Mar;72(3):1204-19.

PMID:
9138567
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron.

Kohrman DC, Harris JB, Meisler MH.

J Biol Chem. 1996 Jul 19;271(29):17576-81.

PMID:
8663325
[PubMed - indexed for MEDLINE]
Free Article
15.

Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.

Takahashi MP, Cannon SC.

Biophys J. 1999 Feb;76(2):861-8.

PMID:
9929487
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.

Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H.

J Physiol. 2000 Dec 15;529 Pt 3:533-9.

PMID:
11118488
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B.

Neurology. 2007 Nov 13;69(20):1937-41.

PMID:
17998485
[PubMed - indexed for MEDLINE]
18.

Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.

Hayward LJ, Kim JS, Lee MY, Zhou H, Kim JW, Misra K, Salajegheh M, Wu FF, Matsuda C, Reid V, Cros D, Hoffman EP, Renaud JM, Cannon SC, Brown RH Jr.

J Clin Invest. 2008 Apr;118(4):1437-49. doi: 10.1172/JCI32638.

PMID:
18317596
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.

Sugiura Y, Makita N, Li L, Noble PJ, Kimura J, Kumagai Y, Soeda T, Yamamoto T.

Neurology. 2003 Oct 14;61(7):914-8.

PMID:
14557559
[PubMed - indexed for MEDLINE]
20.

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ.

J Neurosci. 1999 Jun 15;19(12):4762-71.

PMID:
10366610
[PubMed - indexed for MEDLINE]
Free Article

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