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Items: 1 to 20 of 180

1.

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH Jr.

Nat Genet. 1992 Oct;2(2):148-52.

PMID:
1338909
2.

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

Plassart E, Reboul J, Rime CS, Recan D, Millasseau P, Eymard B, Pelletier J, Thomas C, Chapon F, Desnuelle C, et al.

Eur J Hum Genet. 1994;2(2):110-24.

PMID:
8044656
3.

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
4.

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S.

Arch Neurol. 1999 Jun;56(6):692-6.

PMID:
10369308
5.
6.

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al.

Neurology. 1994 Aug;44(8):1500-3.

PMID:
8058156
7.

Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr, et al.

Cell. 1992 Feb 21;68(4):769-74.

PMID:
1310898
8.

The skeletal muscle sodium and chloride channel diseases.

Hudson AJ, Ebers GC, Bulman DE.

Brain. 1995 Apr;118 ( Pt 2):547-63. Review.

PMID:
7735894
9.

Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).

Koch MC, Baumbach K, George AL, Ricker K.

Neuroreport. 1995 Oct 23;6(15):2001-4.

PMID:
8580427
10.

A novel muscle sodium channel mutation causes painful congenital myotonia.

Rosenfeld J, Sloan-Brown K, George AL Jr.

Ann Neurol. 1997 Nov;42(5):811-4.

PMID:
9392583
11.

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

Plassart E, Eymard B, Maurs L, Hauw JJ, Lyon-Caen O, Fardeau M, Fontaine B.

J Neurol Sci. 1996 Oct;142(1-2):126-33.

PMID:
8902732
12.
13.

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B.

Brain. 2001 Jun;124(Pt 6):1091-9.

PMID:
11353725
15.

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
16.

Lack of sodium channel mutation in an Italian family with paramyotonia congenita.

Sampaolo S, Puca AA, Nigro V, Cappa V, Sannino V, Sanges G, Bonavita V, Di Iorio G.

Neurology. 1999 Oct 22;53(7):1549-55.

PMID:
10534266
17.

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.

Rüdel R, Ricker K, Lehmann-Horn F.

Arch Neurol. 1993 Nov;50(11):1241-8. Review.

PMID:
8215982
18.
19.

Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families.

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

Neurology. 1993 Apr;43(4):668-73.

PMID:
8385748
20.

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.

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