These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
260 related articles for article (PubMed ID: 28552867)
1. [An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease]. Yamamoto J; Hokkoku K; Hatanaka Y; Sakoda S; Yuan JH; Sonoo M Rinsho Shinkeigaku; 2017 Jun; 57(6):287-292. PubMed ID: 28552867 [TBL] [Abstract][Full Text] [Related]
2. The mechanism underlying transient weakness in myotonia congenita. Myers JH; Denman K; DuPont C; Hawash AA; Novak KR; Koesters A; Grabner M; Dayal A; Voss AA; Rich MM Elife; 2021 Apr; 10():. PubMed ID: 33904400 [TBL] [Abstract][Full Text] [Related]
3. New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene. Fusco C; Frattini D; Salerno GG; Canali E; Bernasconi P; Maggi L Brain Dev; 2015 Oct; 37(9):891-3. PubMed ID: 25735906 [TBL] [Abstract][Full Text] [Related]
4. Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients. Elaraby NM; Ahmed HA; Dawoud H; Ashaat NA; Azmy A; Galal ER; Elhusseny Y; Awady HE; Metwally AM; Ashaat EA Mol Biol Rep; 2024 Jun; 51(1):766. PubMed ID: 38877370 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia. Campanale C; Laghetti P; Saltarella I; Altamura C; Canioni E; Iosa E; Maggi L; Brugnoni R; Tacconi P; Desaphy JF J Neuromuscul Dis; 2024; 11(3):725-734. PubMed ID: 38427496 [TBL] [Abstract][Full Text] [Related]
7. Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. Modoni A; D'Amico A; Dallapiccola B; Mereu ML; Merlini L; Pagliarani S; Pisaneschi E; Silvestri G; Torrente I; Valente EM; Lo Monaco M J Clin Neurophysiol; 2011 Feb; 28(1):39-44. PubMed ID: 21221019 [TBL] [Abstract][Full Text] [Related]
8. Changes of Resurgent Na Huang CW; Lai HJ; Lin PC; Lee MJ Int J Mol Sci; 2020 Apr; 21(7):. PubMed ID: 32276507 [TBL] [Abstract][Full Text] [Related]
9. 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; Brain; 2013 Jul; 136(Pt 7):2189-200. PubMed ID: 23771340 [TBL] [Abstract][Full Text] [Related]
10. Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. Lehmann-Horn F; D'Amico A; Bertini E; Lomonaco M; Merlini L; Nelson KR; Philippi H; Siciliano G; Spaans F; Jurkat-Rott K Acta Myol; 2017 Sep; 36(3):125-134. PubMed ID: 29774303 [TBL] [Abstract][Full Text] [Related]
11. 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; 369():254-258. PubMed ID: 27653901 [TBL] [Abstract][Full Text] [Related]
12. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. Lakraj AA; Miller G; Vortmeyer AO; Khokhar B; Nowak RJ; DiCapua DB Yale J Biol Med; 2013 Mar; 86(1):101-6. PubMed ID: 23483815 [TBL] [Abstract][Full Text] [Related]
13. Functional and Structural Characterization of ClC-1 and Na Brenes O; Barbieri R; Vásquez M; Vindas-Smith R; Roig J; Romero A; Valle GD; Bermúdez-Guzmán L; Bertelli S; Pusch M; Morales F Cells; 2021 Feb; 10(2):. PubMed ID: 33670307 [TBL] [Abstract][Full Text] [Related]
15. A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies. Waldrop M; Amornvit J; Pierson CR; Boue DR; Sahenk Z J Neuromuscul Dis; 2019; 6(4):467-473. PubMed ID: 31609695 [TBL] [Abstract][Full Text] [Related]
16. A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link? Portaro S; Cacciola A; Naro A; Milardi D; Morabito R; Corallo F; Marino S; Bramanti A; Mazzon E; Calabrò RS Medicine (Baltimore); 2018 Jun; 97(22):e10785. PubMed ID: 29851785 [TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 26036855 [TBL] [Abstract][Full Text] [Related]
18. A zebrafish model of nondystrophic myotonia with sodium channelopathy. Nam TS; Zhang J; Chandrasekaran G; Jeong IY; Li W; Lee SH; Kang KW; Maeng JS; Kang H; Shin HY; Park HC; Kim S; Choi SY; Kim MK Neurosci Lett; 2020 Jan; 714():134579. PubMed ID: 31669315 [TBL] [Abstract][Full Text] [Related]
19. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Gay S; Dupuis D; Faivre L; Masurel-Paulet A; Labenne M; Colombani M; Soichot P; Huet F; Hainque B; Sternberg D; Fontaine B; Gouyon JB; Thauvin-Robinet C Am J Med Genet A; 2008 Feb; 146A(3):380-3. PubMed ID: 18203179 [TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 21204798 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]