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Results: 1 to 20 of 181

1.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
1654742
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
1315122
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.

Moslehi R, Langlois S, Yam I, Friedman JM.

Am J Med Genet. 1998 Feb 26;76(1):21-7.

PMID:
9508059
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
1683408
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

Linkage of atypical myotonia congenita to a sodium channel locus.

Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M.

Neurology. 1992 Feb;42(2):431-3.

PMID:
1310531
[PubMed - indexed for MEDLINE]
10.

Different gene loci for hyperkalemic and hypokalemic periodic paralysis.

Fontaine B, Trofatter J, Rouleau GA, Khurana TS, Haines J, Brown R, Gusella JF.

Neuromuscul Disord. 1991;1(4):235-8.

PMID:
1822800
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
1651050
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
8389097
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.

Sansone V, Rotondo G, Ptacek LJ, Meola G.

Ital J Neurol Sci. 1994 Dec;15(9):473-80.

PMID:
7721550
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Linkage analysis of candidate loci in autosomal dominant myotonia congenita.

Abdalla JA, Casley WL, Hudson AJ, Murphy EG, Cousin HK, Armstrong HA, Ebers GC.

Neurology. 1992 Aug;42(8):1561-4.

PMID:
1379356
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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