159 related articles for article (PubMed ID: 18033047)
1. [Eulenburg's paramyotonia congenita].
Sallansonnet-Froment M; Bounolleau P; De Greslan T; Ricard D; Taillia H; Renard JL
Rev Neurol (Paris); 2007 Nov; 163(11):1083-90. PubMed ID: 18033047
[TBL] [Abstract][Full Text] [Related]
2. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q; Ye J; Tang S; Wang J; Luo B; Ji F; Zhang X; Yu Y; Cheng X; Li Y
J Physiol; 2017 Nov; 595(22):6837-6850. PubMed ID: 28940424
[TBL] [Abstract][Full Text] [Related]
3. Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.
van Osch T; Stunnenberg BC; Sternberg D; Kerklaan BJ
Muscle Nerve; 2018 Oct; 58(4):E27-E28. PubMed ID: 30028520
[No Abstract] [Full Text] [Related]
4. Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.
Taminato T; Mori-Yoshimura M; Miki J; Sasaki R; Sato N; Oya Y; Nishino I; Takahashi Y
J Neuromuscul Dis; 2020; 7(2):193-201. PubMed ID: 32083589
[TBL] [Abstract][Full Text] [Related]
5. Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
Kinoshita M; Sasaki R; Nagano T; Matsuda A; Nakamura S; Takahama M; Ohnuki M; Hasegawa H; Mitarai T; Hirose K
Intern Med; 2003 Sep; 42(9):856-61. PubMed ID: 14518676
[TBL] [Abstract][Full Text] [Related]
6. Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization.
Péréon Y; Lande G; Demolombe S; Nguyen The Tich S; Sternberg D; Le Marec H; David A
Neurology; 2003 Jan; 60(2):340-2. PubMed ID: 12552059
[TBL] [Abstract][Full Text] [Related]
7. A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
Park JH; Lee YW; Park SA; Lee TK; Rho HJ; Sung KB
Neurologist; 2010 May; 16(3):203-5. PubMed ID: 20445432
[TBL] [Abstract][Full Text] [Related]
8. Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita.
Parasivam S; Krupa M; Slee M; Thyagarajan DE
Med J Aust; 2009 Mar; 190(6):334-6. PubMed ID: 19296818
[TBL] [Abstract][Full Text] [Related]
9. Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC; LoRusso S; Arnold WD; Barohn RJ; Cannon SC; Fontaine B; Griggs RC; Hanna MG; Matthews E; Meola G; Sansone VA; Trivedi JR; van Engelen BGM; Vicart S; Statland JM
Muscle Nerve; 2020 Oct; 62(4):430-444. PubMed ID: 32270509
[TBL] [Abstract][Full Text] [Related]
10. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
Ferriby D; Stojkovic T; Sternberg D; Hurtevent JF; Hurtevent JP; Vermersch P
Neuromuscul Disord; 2006 May; 16(5):321-4. PubMed ID: 16624558
[TBL] [Abstract][Full Text] [Related]
11. A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
Kim DS; Kim EJ; Jung DS; Park KH; Kim IJ; Kwak KY; Kim CM; Ko HY
J Korean Med Sci; 2002 Dec; 17(6):856-60. PubMed ID: 12483017
[TBL] [Abstract][Full Text] [Related]
12. A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
Rajakulendran S; Tan SV; Matthews E; Tomlinson SE; Labrum R; Sud R; Kullmann DM; Schorge S; Hanna MG
Neurology; 2009 Sep; 73(12):993-5. PubMed ID: 19770477
[No Abstract] [Full Text] [Related]
13. Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.
Bouhours M; Sternberg D; Davoine CS; Ferrer X; Willer JC; Fontaine B; Tabti N
J Physiol; 2004 Feb; 554(Pt 3):635-47. PubMed ID: 14617673
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 10369308
[TBL] [Abstract][Full Text] [Related]
15. Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.
Matthews E; Manzur AY; Sud R; Muntoni F; Hanna MG
Arch Neurol; 2011 Jan; 68(1):127-9. PubMed ID: 21220685
[TBL] [Abstract][Full Text] [Related]
16. Paramyotonia congenita due to a de novo mutation: a case report.
Fukudome T; Izumoto H; Goto H; Matsuo H; Yoshimura T; Sakoda S; Shibuya N
Muscle Nerve; 2003 Aug; 28(2):232-5. PubMed ID: 12872329
[TBL] [Abstract][Full Text] [Related]
17. A SCN4A mutation causing paramyotonia congenita.
Palma C; Prior C; Gómez-González C; Rodríguez-Antolin C; Martínez-Montero P; Pérez de Ayala L; Pascual SI; Molano Mateos J
Neuromuscul Disord; 2017 Dec; 27(12):1123-1125. PubMed ID: 29111379
[TBL] [Abstract][Full Text] [Related]
18. Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.
Hsu WC; Huang YC; Wang CW; Hsueh CH; Lai LP; Yeh JH
J Formos Med Assoc; 2006 Jun; 105(6):503-7. PubMed ID: 16801039
[TBL] [Abstract][Full Text] [Related]
19. Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.
Feng Y; Ji X; Sun X; Wang H; Zhang C
J Clin Neurosci; 2011 Aug; 18(8):1138-40. PubMed ID: 21665479
[TBL] [Abstract][Full Text] [Related]
20. Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.
Blijham PJ; Drost G; Stegeman DF; Zwarts MJ
Muscle Nerve; 2008 Jan; 37(1):23-6. PubMed ID: 17823953
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
