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 *

122 related articles for article (PubMed ID: 38832364)

  • 1. Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature.
    Batheja A; Bayer-Vile J; Silverstein E; Couser N
    Ophthalmic Genet; 2024 Oct; 45(5):481-487. PubMed ID: 38832364
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
    Kastreva K; Chamova T; Blagoeva S; Bichev S; Mihaylova V; Meyer S; Thompson R; Cherninkova S; Guergueltcheva V; Lochmuller H; Tournev I
    J Neuromuscul Dis; 2024; 11(5):1011-1020. PubMed ID: 38995797
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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 novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
    Rodríguez Cruz PM; Ravenscroft G; Natera D; Carr A; Manzur A; Liu WW; Vella NR; Jericó I; Gonzalez-Quereda L; Gallano P; Montalto SA; Davis MR; Lamont PJ; Laing NG; Bourque P; Nascimento A; Muntoni F; Polavarapu K; Lochmüller H; Palace J; Beeson D
    Neuromuscul Disord; 2023 Feb; 33(2):161-168. PubMed ID: 36634413
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Salbutamol monotherapy in acetylcholine receptor deficiency-related congenital myasthenic syndrome due to CHRNE mutation.
    Dutta A; Chakraborty A; Das S; Dubey S; Pandit A
    J Neurol; 2022 Jul; 269(7):3923-3925. PubMed ID: 35175423
    [No Abstract]   [Full Text] [Related]  

  • 11. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
    O'Grady GL; Verschuuren C; Yuen M; Webster R; Menezes M; Fock JM; Pride N; Best HA; Benavides Damm T; Turner C; Lek M; Engel AG; North KN; Clarke NF; MacArthur DG; Kamsteeg EJ; Cooper ST
    Neurology; 2016 Oct; 87(14):1442-1448. PubMed ID: 27590285
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 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. Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations.
    Sadeh M; Shen XM; Engel AG
    Muscle Nerve; 2011 Aug; 44(2):289-91. PubMed ID: 21721016
    [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. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.