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Results: 1 to 20 of 112

1.

Evidence of genetic heterogeneity among the nondystrophic myotonias.

Ptacek LJ, Ziter FA, Roberts JW, Leppert MF.

Neurology. 1992 May;42(5):1046-8.

PMID:
1315941
[PubMed - indexed for MEDLINE]
2.

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]
3.

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].

Ivanova EA, Dadali EL, Fedotov VP, Kurbatov SA, Rudenskaia GE, Proskokova TN, Poliakov AV.

Genetika. 2012 Sep;48(9):1113-23. Russian.

PMID:
23113340
[PubMed - indexed for MEDLINE]
4.

Myotonia levior is a chloride channel disorder.

Lehmann-Horn F, Mailänder V, Heine R, George AL.

Hum Mol Genet. 1995 Aug;4(8):1397-402.

PMID:
7581380
[PubMed - indexed for MEDLINE]
5.

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
6.

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]
7.

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]
8.

The skeletal muscle chloride channel in dominant and recessive human myotonia.

Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ.

Science. 1992 Aug 7;257(5071):797-800.

PMID:
1379744
[PubMed - indexed for MEDLINE]
9.

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]
10.

Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19.

Koch M, Harley H, Sarfarazi M, Bender K, Wienker T, Zoll B, Harper PS.

Hum Genet. 1989 May;82(2):163-6.

PMID:
2722193
[PubMed - indexed for MEDLINE]
11.

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC.

Nat Genet. 1993 Apr;3(4):305-10.

PMID:
7981750
[PubMed - indexed for MEDLINE]
12.

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
13.

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
[PubMed - indexed for MEDLINE]
14.

Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.

Esteban J, Neumeyer AM, McKenna-Yasek D, Brown RH.

Neurogenetics. 1998 Mar;1(3):185-8.

PMID:
10737121
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
1386711
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[The clinico-epidemiological characteristics of myotonias in Saratov Province].

Dubinskaia EE.

Zh Nevrol Psikhiatr Im S S Korsakova. 1993;93(5):13-7. Russian.

PMID:
8154208
[PubMed - indexed for MEDLINE]
17.

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B.

Hum Mutat. 1998;11(4):331.

PMID:
10215406
[PubMed - indexed for MEDLINE]
18.

[Becker's myotonia in Peru].

Torres L, Vélez M, Cosentino C.

Rev Neurol. 2000 Jun 1-15;30(11):1033-6. Spanish.

PMID:
10904948
[PubMed - indexed for MEDLINE]
19.

Genetic approaches to the nosology of muscular disease: myotonias and similar diseases.

Becker PE.

Birth Defects Orig Artic Ser. 1971 Feb;7(2):52-62.

PMID:
5293617
[PubMed - indexed for MEDLINE]
20.

Linkage studies of Myotonia congenita and Paramyotonia congenita.

Bender K, Senff H, Steiert A, Lagodny H, Wienker TF, Koch M.

Clin Genet. 1989 Aug;36(2):92-9.

PMID:
2766573
[PubMed - indexed for MEDLINE]

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