153 related articles for article (PubMed ID: 32593548)
21. 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. PubMed ID: 27300293
[TBL] [Abstract][Full Text] [Related]
22. A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
Benhammou JN; Phan J; Lee H; Ghassemi K; Parsons W; Grody WW; Pisegna JR
J Mol Neurosci; 2017 Mar; 61(3):312-314. PubMed ID: 28012096
[TBL] [Abstract][Full Text] [Related]
23. 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. PubMed ID: 23810313
[TBL] [Abstract][Full Text] [Related]
24. Acute myotonic reaction during succinylcholine anaesthesia.
Mohammed SR; Gafoor S; Panday A
Pract Neurol; 2023 Feb; 23(1):74-77. PubMed ID: 36192135
[TBL] [Abstract][Full Text] [Related]
25. Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Meng YX; Yu M; Liu C; Zhang H; Yang Y; Zhang J
Medicine (Baltimore); 2022 Jul; 101(29):e29591. PubMed ID: 35866763
[TBL] [Abstract][Full Text] [Related]
26. Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Sun J; Luo S; Suetterlin KJ; Song J; Huang J; Zhu W; Xi J; Zhou L; Lu J; Lu J; Zhao C; Hanna MG; Männikkö R; Matthews E; Qiao K
Neuromuscul Disord; 2021 Sep; 31(9):829-838. PubMed ID: 33965302
[TBL] [Abstract][Full Text] [Related]
27. Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.
Hata T; Nagasaka T; Koh K; Tsuchiya M; Ichinose Y; Nan H; Shindo K; Takiyama Y
BMC Neurol; 2019 Jun; 19(1):125. PubMed ID: 31189464
[TBL] [Abstract][Full Text] [Related]
28. Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.
Vacchiano V; Brugnoni R; Campanale C; Imbrici P; Dinoi G; Canioni E; Laghetti P; Saltarella I; Altamura C; Maggi L; Liguori R; Donadio V; Desaphy JF
Exp Neurol; 2023 Apr; 362():114342. PubMed ID: 36720299
[TBL] [Abstract][Full Text] [Related]
29. Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.
Portaro S; Rodolico C; Sinicropi S; Musumeci O; Valenzise M; Toscano A
Pediatrics; 2016 Apr; 137(4):. PubMed ID: 26944947
[TBL] [Abstract][Full Text] [Related]
30. Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.
Stunnenberg BC; Raaphorst J; Deenen JCW; Links TP; Wilde AA; Verbove DJ; Kamsteeg EJ; van den Wijngaard A; Faber CG; van der Wilt GJ; van Engelen BGM; Drost G; Ginjaar HB
Neuromuscul Disord; 2018 May; 28(5):402-407. PubMed ID: 29606556
[TBL] [Abstract][Full Text] [Related]
31. De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.
Pechmann A; Eckenweiler M; Schorling D; Stavropoulou D; Lochmüller H; Kirschner J
Neuromuscul Disord; 2019 Nov; 29(11):907-909. PubMed ID: 31732390
[TBL] [Abstract][Full Text] [Related]
32. Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.
Nan H; Wu Y; Cui S; Sun H; Wang J; Li Y; Meng L; Nagasaka T; Wu L
BMC Neurol; 2022 Jan; 22(1):17. PubMed ID: 34996390
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Myotonia congenita: mutation spectrum of
Milla CP; De Castro CP; Gómez-González C; Martínez-Montero P; Pascual Pascual SI; Molano Mateos J
J Genet; 2019 Sep; 98():. PubMed ID: 31544778
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. 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]
39. 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]
40. Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.
Sampaio F; Soares S; Pereira S; Lemos JA; Mota Á
Neuroophthalmology; 2021; 45(1):41-44. PubMed ID: 33762787
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
