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Items: 1 to 20 of 108

1.

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.

2.

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

Kato H, Kokunai Y, Dalle C, Kubota T, Madokoro Y, Yuasa H, Uchida Y, Ikeda T, Mochizuki H, Nicole S, Fontaine B, Takahashi MP, Mitake S.

J Neurol Sci. 2016 Oct 15;369:254-258. doi: 10.1016/j.jns.2016.08.030. Epub 2016 Aug 13.

PMID:
27653901
3.

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium.

Brain. 2013 Jul;136(Pt 7):2189-200. doi: 10.1093/brain/awt133. Epub 2013 Jun 13.

4.

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T.

Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19.

PMID:
21204798
5.

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

Yang X, Jia H, An R, Xi J, Xu Y.

Channels (Austin). 2017 Jan 2;11(1):55-65. doi: 10.1080/19336950.2016.1212140. Epub 2016 Jul 14.

6.

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG.

Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20.

7.

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.

Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S.

Eur J Hum Genet. 2016 Mar;24(3):400-7. doi: 10.1038/ejhg.2015.125. Epub 2015 Jun 3.

8.

Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.

Rudnik-Schöneborn S, Witsch-Baumgartner M, Zerres K.

Gynecol Obstet Invest. 2016;81(5):472-6. doi: 10.1159/000446944. Epub 2016 Jun 15.

PMID:
27300293
9.

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A.

Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27.

10.

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.

Meng YX, Zhao Z, Shen HR, Bing Q, Hu J.

Neurol Res. 2016 Jan;38(1):40-4. doi: 10.1080/01616412.2015.1114741.

PMID:
27118449
11.

Myotonic discharges discriminate chloride from sodium muscle channelopathies.

Drost G, Stunnenberg BC, Trip J, Borm G, McGill KC, Ginjaar IH, van der Kooi AW, Zwarts MJ, van Engelen BG, Faber CG, Stegeman DF, Lateva Z.

Neuromuscul Disord. 2015 Jan;25(1):73-80. doi: 10.1016/j.nmd.2014.09.014. Epub 2014 Oct 6.

PMID:
25454733
12.

Double trouble in a patient with myotonia.

Hehir MK, Logigian E, Raja Rayan DL, Ciafaloni E.

BMJ Case Rep. 2013 Feb 14;2013. pii: bcr-2012-008167. doi: 10.1136/bcr-2012-008167.

13.

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
14.

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

Maggi L, Brugnoni R, Canioni E, Maccagnano E, Bernasconi P, Morandi L.

Acta Myol. 2015 Dec;34(2-3):109-15.

15.

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J.

Neuromuscul Disord. 2009 May;19(5):330-4. doi: 10.1016/j.nmd.2008.01.007. Epub 2008 Mar 11.

PMID:
18337100
16.

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
17.

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

Andersen G, Hedermann G, Witting N, Duno M, Andersen H, Vissing J.

Brain. 2017 Sep 1;140(9):2295-2305. doi: 10.1093/brain/awx192.

PMID:
29050397
18.

Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

Trip J, Drost G, Ginjaar HB, Nieman FH, van der Kooi AJ, de Visser M, van Engelen BG, Faber CG.

J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):647-52. doi: 10.1136/jnnp.2008.162396. Epub 2009 Feb 11.

PMID:
19211598
19.

Thomsen disease with ptosis and abnormal MR findings.

Mori Y, Yamashita S, Kato M, Masuda T, Takamatsu K, Kumamoto T, Sasaki R, Ando Y.

Neuromuscul Disord. 2016 Nov;26(11):805-808. doi: 10.1016/j.nmd.2016.08.016. Epub 2016 Sep 3.

PMID:
27666773
20.

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC, Verschuuren JJ, de Visser M, van Engelen BG, Faber CG, Ginjaar IB.

Eur J Hum Genet. 2008 Aug;16(8):921-9. doi: 10.1038/ejhg.2008.39. Epub 2008 Mar 12.

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