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Items: 1 to 20 of 33

1.

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.

Mankodi A, Grunseich C, Skov M, Cook L, Aue G, Purev E, Bakar D, Lehky T, Jurkat-Rott K, Pedersen TH, Childs RW.

Neuromuscul Disord. 2015 Nov;25(11):908-12. doi: 10.1016/j.nmd.2015.08.007. Epub 2015 Aug 20.

PMID:
26494408
2.

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

Liu XL, Huang XJ, Luan XH, Zhou HY, Wang T, Wang JY, Chen SD, Tang HD, Cao L.

Channels (Austin). 2015;9(2):82-7. doi: 10.1080/19336950.2015.1012945. Review.

3.

Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

Xu C, Qi J, Shi Y, Feng Y, Zang W, Zhang J.

Int J Clin Exp Pathol. 2015 Jan 1;8(1):1050-6. eCollection 2015.

4.

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B.

Neuromuscul Disord. 2014 Nov;24(11):953-9. doi: 10.1016/j.nmd.2014.06.439. Epub 2014 Jul 2.

PMID:
25088311
5.

Teaching video neuroimages: lid lag sign and diplopia in paramyotonia congenita.

Stunnenberg BC, Drost G.

Neurology. 2014 Jul 29;83(5):e68. doi: 10.1212/WNL.0000000000000649. No abstract available.

PMID:
25074897
6.

Focal and abnormally persistent paralysis associated with congenital paramyotonia.

Magot A, David A, Sternberg D, Péréon Y.

BMJ Case Rep. 2014 Jun 17;2014. pii: bcr2014204430. doi: 10.1136/bcr-2014-204430.

7.

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

Morrow JM, Matthews E, Raja Rayan DL, Fischmann A, Sinclair CD, Reilly MM, Thornton JS, Hanna MG, Yousry TA.

Neuromuscul Disord. 2013 Aug;23(8):637-46. doi: 10.1016/j.nmd.2013.05.001. Epub 2013 Jun 27.

8.

Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.

Lossin C, Nam TS, Shahangian S, Rogawski MA, Choi SY, Kim MK, Sunwoo IN.

Neurology. 2012 Sep 4;79(10):1033-40. doi: 10.1212/WNL.0b013e3182684683. Epub 2012 Aug 22.

PMID:
22914841
9.

Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.

Nurputra DK, Nakagawa T, Takeshima Y, Harahap IS, Morikawa S, Sakaeda T, Lai PS, Matsuo M, Takaoka Y, Nishio H.

Pediatr Int. 2012 Oct;54(5):602-12. doi: 10.1111/j.1442-200X.2012.03646.x. Epub 2012 Jul 10.

PMID:
22507243
10.
11.

3 Tesla sodium inversion recovery magnetic resonance imaging allows for improved visualization of intracellular sodium content changes in muscular channelopathies.

Nagel AM, Amarteifio E, Lehmann-Horn F, Jurkat-Rott K, Semmler W, Schad LR, Weber MA.

Invest Radiol. 2011 Dec;46(12):759-66. doi: 10.1097/RLI.0b013e31822836f6.

PMID:
21750464
12.

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. doi: 10.1016/j.jocn.2010.12.035. Epub 2011 Jun 12.

PMID:
21665479
13.

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Tan SV, Matthews E, Barber M, Burge JA, Rajakulendran S, Fialho D, Sud R, Haworth A, Koltzenburg M, Hanna MG.

Ann Neurol. 2011 Feb;69(2):328-40. doi: 10.1002/ana.22238.

14.

Ranolazine block of human Na v 1.4 sodium channels and paramyotonia congenita mutants.

El-Bizri N, Kahlig KM, Shyrock JC, George AL Jr, Belardinelli L, Rajamani S.

Channels (Austin). 2011 Mar-Apr;5(2):161-72. Epub 2011 Mar 1.

PMID:
21317558
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. doi: 10.1001/archneurol.2010.347.

PMID:
21220685
16.

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. doi: 10.1097/NRL.0b013e3181a3cb6c.

PMID:
20445432
17.

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 22;73(12):993-5. doi: 10.1212/WNL.0b013e3181b87959. No abstract available.

18.

Relief from episodic weakness with pyridostigmine in paramyotonia congenita: a family study.

Khadilkar SV, Singh RK, Mansukhani KA, Urtizberea JA, Sternberg D.

Muscle Nerve. 2010 Jan;41(1):133-7. doi: 10.1002/mus.21434.

PMID:
19768756
19.

Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes.

Trip J, Pillen S, Faber CG, van Engelen BG, Zwarts MJ, Drost G.

Neuromuscul Disord. 2009 Jul;19(7):462-7. doi: 10.1016/j.nmd.2009.06.369. Epub 2009 Jun 21.

PMID:
19540760
20.

New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

Kubota T, Kinoshita M, Sasaki R, Aoike F, Takahashi MP, Sakoda S, Hirose K.

Muscle Nerve. 2009 May;39(5):666-73. doi: 10.1002/mus.21155.

PMID:
19347921
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