Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 17

1.

Targeted deletion of Kcne3 impairs skeletal muscle function in mice.

King EC, Patel V, Anand M, Zhao X, Crump SM, Hu Z, Weisleder N, Abbott GW.

FASEB J. 2017 Jul;31(7):2937-2947. doi: 10.1096/fj.201600965RR. Epub 2017 Mar 29.

2.

Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.

Statland JM, Barohn RJ.

Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1598-614. doi: 10.1212/01.CON.0000440661.49298.c8. Review.

3.

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.

4.

A quantitative measure of handgrip myotonia in non-dystrophic myotonia.

Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium.

Muscle Nerve. 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402.

5.

Skeletal muscle na channel disorders.

Simkin D, Bendahhou S.

Front Pharmacol. 2011 Oct 14;2:63. doi: 10.3389/fphar.2011.00063. eCollection 2011.

6.

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.

Brain. 2010 Jan;133(Pt 1):9-22. doi: 10.1093/brain/awp294. Epub 2009 Nov 16. Review.

7.

Inherited disorders of voltage-gated sodium channels.

George AL Jr.

J Clin Invest. 2005 Aug;115(8):1990-9. Review.

8.

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.

Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, Ptácek LJ.

J Physiol. 1999 Jul 15;518 ( Pt 2):337-44.

9.
10.

Investigation of muscle disease.

Mastaglia FL, Laing NG.

J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):256-74. Review. No abstract available.

11.
12.

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.

Wang J, Zhou J, Todorovic SM, Feero WG, Barany F, Conwit R, Hausmanowa-Petrusewicz I, Fidzianska A, Arahata K, Wessel HB, et al.

Am J Hum Genet. 1993 Jun;52(6):1074-84.

14.

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

Yang N, Ji S, Zhou M, Ptácek LJ, Barchi RL, Horn R, George AL Jr.

Proc Natl Acad Sci U S A. 1994 Dec 20;91(26):12785-9.

15.

Phenotypic heterogeneity and the single gene.

Suthers GK, Davies KE.

Am J Hum Genet. 1992 May;50(5):887-91. No abstract available. Erratum in: Am J Hum Genet 1992 Aug;51(2):450. Am J Hum Genet 1992 Jul;51(1):227.

16.

Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.

Abdalla JA, Casley WL, Cousin HK, Hudson AJ, Murphy EG, Cornélis FC, Hashimoto L, Ebers GC.

Am J Hum Genet. 1992 Sep;51(3):579-84.

17.

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.

McClatchey AI, Trofatter J, McKenna-Yasek D, Raskind W, Bird T, Pericak-Vance M, Gilchrist J, Arahata K, Radosavljevic D, Worthen HG, et al.

Am J Hum Genet. 1992 May;50(5):896-901. Erratum in: Am J Hum Genet. 1992 Oct;51(4):942.

Supplemental Content

Support Center