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Items: 1 to 20 of 32


Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia.

Lowrie M, Garosi L.

J Vet Intern Med. 2017 Jul;31(4):979-987. doi: 10.1111/jvim.14771. Epub 2017 May 30. Review.


ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.

Poroca DR, Pelis RM, Chappe VM.

Front Pharmacol. 2017 Mar 23;8:151. doi: 10.3389/fphar.2017.00151. eCollection 2017. Review.


A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.

Ørstavik K, Wallace SC, Torbergsen T, Abicht A, Erik Tangsrud S, Kerty E, Rasmussen M.

J Neuromuscul Dis. 2015 Jun 4;2(2):181-184.


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.


Myotonic disorders: A review article.

Hahn C, Salajegheh MK.

Iran J Neurol. 2016 Jan 5;15(1):46-53. Review.


Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.

Heidari MM, Khatami M, Nafissi S, Hesami-Zokai F, Khorrami A.

Iran J Neurol. 2015 Oct 7;14(4):190-4.


Myotonia congenita: novel mutations in CLCN1 gene.

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

Channels (Austin). 2015;9(5):292-8. doi: 10.1080/19336950.2015.1075676. Epub 2015 Aug 11.


ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

Imbrici P, Maggi L, Mangiatordi GF, Dinardo MM, Altamura C, Brugnoni R, Alberga D, Pinter GL, Ricci G, Siciliano G, Micheli R, Annicchiarico G, Lattanzi G, Nicolotti O, Morandi L, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC.

J Physiol. 2015 Sep 15;593(18):4181-99. doi: 10.1113/JP270358. Epub 2015 Jul 14.


ClC-1 chloride channels: state-of-the-art research and future challenges.

Imbrici P, Altamura C, Pessia M, Mantegazza R, Desaphy JF, Camerino DC.

Front Cell Neurosci. 2015 Apr 27;9:156. doi: 10.3389/fncel.2015.00156. eCollection 2015. Review.


Channelopathies of skeletal muscle excitability.

Cannon SC.

Compr Physiol. 2015 Apr;5(2):761-90. doi: 10.1002/cphy.c140062. Review.


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.


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.


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.


Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.

Cregg R, Cox JJ, Bennett DL, Wood JN, Werdehausen R.

Br J Pharmacol. 2014 Oct;171(19):4455-63. doi: 10.1111/bph.12788. Epub 2014 Aug 29.


Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs.

Desaphy JF, Carbonara R, Costanza T, Conte Camerino D.

Exp Neurol. 2014 May;255:96-102. doi: 10.1016/j.expneurol.2014.02.023. Epub 2014 Mar 5.


Nondystrophic myotonia: challenges and future directions.

Trivedi JR, Cannon SC, Griggs RC.

Exp Neurol. 2014 Mar;253:28-30. doi: 10.1016/j.expneurol.2013.12.005. Epub 2013 Dec 18.


Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.

Statland JM, Barohn RJ.

Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1598-614. doi: 10.1212/01.CON.0000440661.49298.c8. Review.


Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review.

Saleem R, Setty G, Khan A, Farrell D, Hussain N.

J Pediatr Neurosci. 2013 May;8(2):138-40. doi: 10.4103/1817-1745.117848.


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.


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.

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