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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 21150643)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
    Brugnoni R; Maggi L; Canioni E; Moroni I; Pantaleoni C; D'Arrigo S; Riva D; Cornelio F; Bernasconi P; Mantegazza R
    J Neurol; 2010 Jul; 257(7):1119-23. PubMed ID: 20157724
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
    Abicht A; Stucka R; Karcagi V; Herczegfalvi A; Horváth R; Mortier W; Schara U; Ramaekers V; Jost W; Brunner J; Janssen G; Seidel U; Schlotter B; Müller-Felber W; Pongratz D; Rüdel R; Lochmüller H
    Neurology; 1999 Oct; 53(7):1564-9. PubMed ID: 10534268
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.
    Richard P; Gaudon K; Haddad H; Ammar AB; Genin E; Bauché S; Paturneau-Jouas M; Müller JS; Lochmüller H; Grid D; Hamri A; Nouioua S; Tazir M; Mayer M; Desnuelle C; Barois A; Chabrol B; Pouget J; Koenig J; Gouider-Khouja N; Hentati F; Eymard B; Hantaï D
    Neurology; 2008 Dec; 71(24):1967-72. PubMed ID: 19064877
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
    Tan JS; Ambang T; Ahmad-Annuar A; Rajahram GS; Wong KT; Goh KJ
    Muscle Nerve; 2016 May; 53(5):822-6. PubMed ID: 26789281
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.
    Witoonpanich R; Pulkes T; Dejthevaporn C; Yodnopklao P; Witoonpanich P; Wetchaphanphesat S; Brengman JM; Engel AG
    Neuromuscul Disord; 2011 Mar; 21(3):214-8. PubMed ID: 21316238
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation.
    Kraner S; Sieb JP; Thompson PN; Steinlein OK
    Neurogenetics; 2002 Oct; 4(2):87-91. PubMed ID: 12481987
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.