300 related articles for article (PubMed ID: 32010054)
1. An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F; Pusch M
Front Neurol; 2019; 10():1404. PubMed ID: 32010054
[TBL] [Abstract][Full Text] [Related]
2. Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N; Montagnese F; Gläser D; Schoser B
J Neurol; 2021 May; 268(5):1708-1720. PubMed ID: 33263785
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. PubMed ID: 21204798
[TBL] [Abstract][Full Text] [Related]
5. Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
Maggi L; Ravaglia S; Farinato A; Brugnoni R; Altamura C; Imbrici P; Camerino DC; Padovani A; Mantegazza R; Bernasconi P; Desaphy JF; Filosto M
Neurogenetics; 2017 Dec; 18(4):219-225. PubMed ID: 28993909
[TBL] [Abstract][Full Text] [Related]
6. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH; Higuchi Y; Hashiguchi A; Ando M; Yoshimura A; Nakamura T; Sakiyama Y; Takashima H
J Neurol; 2022 Dec; 269(12):6406-6415. PubMed ID: 35907044
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Diagnostics in skeletal muscle channelopathies.
Vicino A; Brugnoni R; Maggi L
Expert Rev Mol Diagn; 2023; 23(12):1175-1193. PubMed ID: 38009256
[TBL] [Abstract][Full Text] [Related]
9. Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.
Pagliarani S; Meola G; Filareti M; Comi GP; Lucchiari S
Front Neurol; 2022; 13():845383. PubMed ID: 36081873
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.
Fullam TR; Chandrashekhar S; Farmakidis C; Jawdat O; Pasnoor M; Dimachkie MM; Statland JM;
Muscle Nerve; 2022 Aug; 66(2):148-158. PubMed ID: 35644941
[TBL] [Abstract][Full Text] [Related]
12. [Muscle channelopathies. Myotonias and periodic paralyses].
Jurkat-Rott K; Lerche H; Lehmann-Horn F
Nervenarzt; 2011 Apr; 82(4):511-20; quiz 521. PubMed ID: 21484581
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 18337730
[TBL] [Abstract][Full Text] [Related]
14. The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.
Wang Q; Zhao Z; Shen H; Bing Q; Li N; Hu J
Front Neurol; 2022; 13():830707. PubMed ID: 35350395
[TBL] [Abstract][Full Text] [Related]
15. Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Meyer AP; Roggenbuck J; LoRusso S; Kissel J; Smith RM; Kline D; Arnold WD
Front Neurol; 2020; 11():593. PubMed ID: 32670189
[No Abstract] [Full Text] [Related]
16. The Dystrophic and Nondystrophic Myotonias.
Sansone VA
Continuum (Minneap Minn); 2016 Dec; 22(6, Muscle and Neuromuscular Junction Disorders):1889-1915. PubMed ID: 27922499
[TBL] [Abstract][Full Text] [Related]
17. Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Talarico M; Fortunato F; Labalme A; Januel L; Chatron N; Sanlaville D; Sammarra I; Gagliardi M; Procopio R; Valentino P; Annesi G; Lesca G; Gambardella A
Epilepsia Open; 2024 Jun; 9(3):951-959. PubMed ID: 38544349
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19211598
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
Yoshinaga H; Sakoda S; Shibata T; Akiyama T; Oka M; Yuan JH; Takashima H; Takahashi MP; Kitamura T; Murakami N; Kobayashi K
Pediatr Neurol; 2015 May; 52(5):504-8. PubMed ID: 25724373
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 27199537
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
