198 related articles for article (PubMed ID: 27717316)
1. A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.
Chang T; Cossins J; Beeson D
BMC Neurol; 2016 Oct; 16(1):195. PubMed ID: 27717316
[TBL] [Abstract][Full Text] [Related]
2. Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in
Ardissone A; Moroni I; Bernasconi P; Brugnoni R
Acta Myol; 2017 Mar; 36(1):28-32. PubMed ID: 28690392
[TBL] [Abstract][Full Text] [Related]
3. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Estephan EP; Sobreira CFDR; Dos Santos ACJ; Tomaselli PJ; Marques W; Ortega RPM; Costa MCM; da Silva AMS; Mendonça RH; Caldas VM; Zambon AA; Abath Neto O; Marchiori PE; Heise CO; Reed UC; Azuma Y; Töpf A; Lochmüller H; Zanoteli E
J Neurol; 2018 Mar; 265(3):708-713. PubMed ID: 29383513
[TBL] [Abstract][Full Text] [Related]
4. CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
Yang K; Cheng H; Yuan F; Meng L; Yin R; Zhang Y; Wang S; Wang C; Lu Y; Xi J; Lu Q; Chen Y
Medicine (Baltimore); 2018 Apr; 97(17):e0347. PubMed ID: 29702980
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.
Natera-de Benito D; Domínguez-Carral J; Muelas N; Nascimento A; Ortez C; Jaijo T; Arteaga R; Colomer J; Vilchez JJ
Neuromuscul Disord; 2016 Nov; 26(11):789-795. PubMed ID: 27634344
[TBL] [Abstract][Full Text] [Related]
6. Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
Salih MA; Oystreck DT; Al-Faky YH; Kabiraj M; Omer MI; Subahi EM; Beeson D; Abu-Amero KK; Bosley TM
J Neuroophthalmol; 2011 Mar; 31(1):42-7. PubMed ID: 21150643
[TBL] [Abstract][Full Text] [Related]
7. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers.
Rinz CJ; Lennon VA; James F; Thoreson JB; Tsai KL; Starr-Moss AN; Humphries HD; Guo LT; Palmer AC; Clark LA; Shelton GD
Neuromuscul Disord; 2015 Dec; 25(12):921-7. PubMed ID: 26429099
[TBL] [Abstract][Full Text] [Related]
8. Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.
Huang K; Luo YB; Bi FF; Yang H
Curr Neuropharmacol; 2021; 19(5):718-729. PubMed ID: 32727330
[TBL] [Abstract][Full Text] [Related]
9. A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.
Richard P; Gaudon K; Fournier E; Jackson C; Bauché S; Haddad H; Koenig J; Echenne B; Hantaï D; Eymard B
Neuromuscul Disord; 2007 May; 17(5):409-14. PubMed ID: 17363247
[TBL] [Abstract][Full Text] [Related]
10. Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report.
Gooneratne IK; Nandasiri S; Maxwell S; Webster R; Cossins J; Beeson D; Gunaratne K; Herath L; Senanayake S; Chang T
J Neuromuscul Dis; 2021; 8(1):163-167. PubMed ID: 33216040
[TBL] [Abstract][Full Text] [Related]
11. Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
Gül Mert G; Özcan N; Hergüner Ö; Altunbaşak Ş; Incecik F; Bişgin A; Ceylaner S
Acta Neurol Belg; 2021 Apr; 121(2):529-534. PubMed ID: 31773638
[TBL] [Abstract][Full Text] [Related]
12. A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome.
Chan C; Emery L; Maltese C; Kumar A; Aliu E; Naik S; Paul D
Child Neurol Open; 2023; 10():2329048X231216432. PubMed ID: 38034490
[TBL] [Abstract][Full Text] [Related]
13. A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.
Tan JZ; Man Y; Xiao F
Chin Med J (Engl); 2016 Nov; 129(21):2596-2602. PubMed ID: 27779167
[TBL] [Abstract][Full Text] [Related]
14. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.
Santos E; Moreira I; Coutinho E; Gonçalves G; Lopes C; Lopes Lima J; Leite MI
Neuromuscul Disord; 2015 Dec; 25(12):928-31. PubMed ID: 26363966
[TBL] [Abstract][Full Text] [Related]
15. Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
Yasaki E; Prioleau C; Barbier J; Richard P; Andreux F; Leroy JP; Dartevelle P; Koenig J; Molgó J; Fardeau M; Eymard B; Hantaï D
Neuromuscul Disord; 2004 Jan; 14(1):24-32. PubMed ID: 14659409
[TBL] [Abstract][Full Text] [Related]
16. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
Müller JS; Baumeister SK; Schara U; Cossins J; Krause S; von der Hagen M; Huebner A; Webster R; Beeson D; Lochmüller H; Abicht A
Brain; 2006 Oct; 129(Pt 10):2784-93. PubMed ID: 16916845
[TBL] [Abstract][Full Text] [Related]
17. Clinical and genetic characterization of an Italian family with slow-channel syndrome.
Angelini C; Lispi L; Salvoro C; Mostacciuolo ML; Vazza G
Neurol Sci; 2019 Mar; 40(3):503-507. PubMed ID: 30542963
[TBL] [Abstract][Full Text] [Related]
18. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
Müller JS; Stucka R; Neudecker S; Zierz S; Schmidt C; Huebner A; Lochmüller H; Abicht A
Neurology; 2005 Aug; 65(3):463-5. PubMed ID: 16087917
[TBL] [Abstract][Full Text] [Related]
19. A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
Webster R; Maxwell S; Spearman H; Tai K; Beckstein O; Sansom M; Beeson D
Brain; 2012 Apr; 135(Pt 4):1070-80. PubMed ID: 22382357
[TBL] [Abstract][Full Text] [Related]
20. Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP; Kilic MA; Yalcin EU; Kurekci F; Avci R; Hacıfazlıoğlu NE; Ceylaner S; Gezdirici A; Çalışkan M
Acta Neurol Belg; 2023 Oct; 123(5):1841-1847. PubMed ID: 36094697
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
