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Items: 1 to 20 of 114

1.

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH Jr.

Nature. 1991 Dec 5;354(6352):387-9.

PMID:
1659668
2.
3.

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.

Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, Hanson MP, Rich J, McFarlane H, Yasek DM, et al.

Science. 1990 Nov 16;250(4983):1000-2.

PMID:
2173143
4.

Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding.

Rudolph JA, Spier SJ, Byrns G, Rojas CV, Bernoco D, Hoffman EP.

Nat Genet. 1992 Oct;2(2):144-7.

PMID:
1338908
5.
6.

Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.

Koch MC, Ricker K, Otto M, Grimm T, Hoffman EP, Rüdel R, Bender K, Zoll B, Harper PS, Lehmann-Horn F.

J Med Genet. 1991 Sep;28(9):583-6.

7.

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M.

Am J Hum Genet. 1991 Aug;49(2):378-82.

8.

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M.

Am J Hum Genet. 1991 Oct;49(4):851-4.

9.

Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

Hanna MG, Stewart J, Schapira AH, Wood NW, Morgan-Hughes JA, Murray NM.

J Neurol Neurosurg Psychiatry. 1998 Aug;65(2):248-50.

10.

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Ptácek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF.

Cell. 1991 Nov 29;67(5):1021-7.

PMID:
1659948
11.

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F.

Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54.

12.

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.

Ebers GC, George AL, Barchi RL, Ting-Passador SS, Kallen RG, Lathrop GM, Beckmann JS, Hahn AF, Brown WF, Campbell RD, et al.

Ann Neurol. 1991 Dec;30(6):810-6.

PMID:
1686388
13.

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

Koch MC, Ricker K, Otto M, Grimm T, Bender K, Zoll B, Harper PS, Lehmann-Horn F, Rüdel R, Hoffman EP.

Hum Genet. 1991 Nov;88(1):71-4.

PMID:
1660029
14.

Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene.

Sillén A, Wadelius C, Sundvall M, Ahlsten G, Gustavson KH.

Genet Couns. 1996;7(4):267-75.

PMID:
8985730
15.

Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.

Wang JZ, Rojas CV, Zhou JH, Schwartz LS, Nicholas H, Hoffman EP.

Biochem Biophys Res Commun. 1992 Jan 31;182(2):794-801.

PMID:
1310396
16.

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

Ptacek LJ, Gouw L, Kwieciński H, McManis P, Mendell JR, Barohn RJ, George AL Jr, Barchi RL, Robertson M, Leppert MF.

Ann Neurol. 1993 Mar;33(3):300-7.

PMID:
8388676
17.

Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.

George AL Jr, Komisarof J, Kallen RG, Barchi RL.

Ann Neurol. 1992 Feb;31(2):131-7.

PMID:
1315496
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