141 related articles for article (PubMed ID: 32129495)
1. EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.
Horie R; Kubota T; Koh J; Tanaka R; Nakamura Y; Sasaki R; Ito H; Takahashi MP
Muscle Nerve; 2020 Jun; 61(6):808-814. PubMed ID: 32129495
[TBL] [Abstract][Full Text] [Related]
2. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q; Ye J; Tang S; Wang J; Luo B; Ji F; Zhang X; Yu Y; Cheng X; Li Y
J Physiol; 2017 Nov; 595(22):6837-6850. PubMed ID: 28940424
[TBL] [Abstract][Full Text] [Related]
3. Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate.
Farinato A; Altamura C; Imbrici P; Maggi L; Bernasconi P; Mantegazza R; Pasquali L; Siciliano G; Lo Monaco M; Vial C; Sternberg D; Carratù MR; Conte D; Desaphy JF
Pharmacol Res; 2019 Mar; 141():224-235. PubMed ID: 30611854
[TBL] [Abstract][Full Text] [Related]
4. Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?
Biswas S; DiSilvestre DA; Dong P; Tomaselli GF
PLoS One; 2013; 8(12):e81063. PubMed ID: 24324661
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 25348630
[TBL] [Abstract][Full Text] [Related]
6. p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Rigamonti A; Mantero V; Peverelli L; Pagliarani S; Lucchiari S; Comi G; Gibertini S; Salmaggi A
Neurol Sci; 2021 Dec; 42(12):5359-5363. PubMed ID: 34378097
[TBL] [Abstract][Full Text] [Related]
7. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT; Thor MG; Oates EC; van Karnebeek C; Hendson G; Blom E; Witting N; Rasmussen M; Gabbett MT; Ravenscroft G; Sframeli M; Suetterlin K; Sarkozy A; D'Argenzio L; Hartley L; Matthews E; Pitt M; Vissing J; Ballegaard M; Krarup C; Slørdahl A; Halvorsen H; Ye XC; Zhang LH; Løkken N; Werlauff U; Abdelsayed M; Davis MR; Feng L; Phadke R; Sewry CA; Morgan JE; Laing NG; Vallance H; Ruben P; Hanna MG; Lewis S; Kamsteeg EJ; Männikkö R; Muntoni F
Brain; 2016 Mar; 139(Pt 3):674-91. PubMed ID: 26700687
[TBL] [Abstract][Full Text] [Related]
8. Myotonic disorders.
Mankodi A
Neurol India; 2008; 56(3):298-304. PubMed ID: 18974556
[TBL] [Abstract][Full Text] [Related]
9. SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
Bugiardini E; Rivolta I; Binda A; Soriano Caminero A; Cirillo F; Cinti A; Giovannoni R; Botta A; Cardani R; Wicklund MP; Meola G
Neuromuscul Disord; 2015 Apr; 25(4):301-7. PubMed ID: 25660391
[TBL] [Abstract][Full Text] [Related]
10. A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.
Wu FF; Gordon E; Hoffman EP; Cannon SC
J Physiol; 2005 Jun; 565(Pt 2):371-80. PubMed ID: 15774523
[TBL] [Abstract][Full Text] [Related]
11. New mutation of the Na channel in the severe form of potassium-aggravated myotonia.
Kubota T; Kinoshita M; Sasaki R; Aoike F; Takahashi MP; Sakoda S; Hirose K
Muscle Nerve; 2009 May; 39(5):666-73. PubMed ID: 19347921
[TBL] [Abstract][Full Text] [Related]
12. A SCN4A mutation causing paramyotonia congenita.
Palma C; Prior C; Gómez-González C; Rodríguez-Antolin C; Martínez-Montero P; Pérez de Ayala L; Pascual SI; Molano Mateos J
Neuromuscul Disord; 2017 Dec; 27(12):1123-1125. PubMed ID: 29111379
[TBL] [Abstract][Full Text] [Related]
13. Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.
Lossin C; Nam TS; Shahangian S; Rogawski MA; Choi SY; Kim MK; Sunwoo IN
Neurology; 2012 Sep; 79(10):1033-40. PubMed ID: 22914841
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.
Ke Q; Zhao Y; Li Y; Ye J; Tang S; He F; Ji F; Dai X; Ni J; Li Y; Griggs RC; Cheng X
Neuromuscul Disord; 2022 Oct; 32(10):811-819. PubMed ID: 36050252
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 25839108
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Nav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders?
Lossin C
Muscle Nerve; 2013 Apr; 47(4):483-7. PubMed ID: 23381896
[TBL] [Abstract][Full Text] [Related]
20. Clinical Reasoning: A 10-year-old girl with muscle stiffness.
Prior DE; Ghosh PS
Neurology; 2020 Aug; 95(6):e773-e778. PubMed ID: 32554772
[No Abstract] [Full Text] [Related]
[Next] [New Search]