Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 13

1.

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

Raheem O, Penttilä S, Suominen T, Kaakinen M, Burge J, Haworth A, Sud R, Schorge S, Haapasalo H, Sandell S, Metsikkö K, Hanna M, Udd B.

Neurology. 2012 Nov 27;79(22):2194-200. doi: 10.1212/WNL.0b013e31827595e2. Epub 2012 Nov 14.

2.

Myotonia congenita.

Lossin C, George AL Jr.

Adv Genet. 2008;63:25-55. doi: 10.1016/S0065-2660(08)01002-X. Review.

PMID:
19185184
3.

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.

Tang CY, Chen TY.

J Biomed Biotechnol. 2011;2011:685328. doi: 10.1155/2011/685328. Epub 2011 Dec 1. Review.

4.

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

Pusch M.

Hum Mutat. 2002 Apr;19(4):423-34. Review.

PMID:
11933197
5.

Phenotypic variability in myotonia congenita.

Colding-Jørgensen E.

Muscle Nerve. 2005 Jul;32(1):19-34. Review.

PMID:
15786415
6.

[Autosomal recessive generalized myotonia(Becker)].

Saito K, Komine M.

Ryoikibetsu Shokogun Shirizu. 2001;(35):123-5. Review. Japanese. No abstract available.

PMID:
11555887
7.

[Myotonia congenital (Thomsen) and recessive generalized myotonia (Becker)].

Kuhn E.

Nervenarzt. 1993 Dec;64(12):766-9. Review. German.

PMID:
8114977
8.

The myotonias: their diagnosis and treatment.

Moxley RT 3rd.

Compr Ther. 1996 Jan;22(1):8-21. Review. No abstract available.

PMID:
8654027
9.

Ion channel mutations in periodic paralysis and related myotonic diseases.

Brown RH Jr.

Ann N Y Acad Sci. 1993 Dec 20;707:305-16. Review. No abstract available.

PMID:
9137561
10.

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
12.

[Role and function of voltage-gated chloride channels of the CIC family and their defects leading to genetic diseases].

Dołowy K, Bednarczyk P, Hordejuk R, Dworakowska B, Nurowska E, Jarzabek W.

Postepy Hig Med Dosw. 2002;56(3):307-13. Review. Polish.

PMID:
12194243
13.
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk