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 *

449 related articles for article (PubMed ID: 10534268)

  • 1. 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]  

  • 2. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
    Müller JS; Mildner G; Müller-Felber W; Schara U; Krampfl K; Petersen B; Petrova S; Stucka R; Mortier W; Bufler J; Kurlemann G; Huebner A; Merlini L; Lochmüller H; Abicht A
    Neurology; 2003 Jun; 60(11):1805-10. PubMed ID: 12796535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.
    Barisic N; Schmidt C; Sidorova OP; Herczegfalvi A; Gekht BM; Song IH; Stucka R; Karcagi V; Abicht A; Lochmüller H
    Neuropediatrics; 2002 Oct; 33(5):249-54. PubMed ID: 12536367
    [TBL] [Abstract][Full Text] [Related]  

  • 4. End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
    Croxen R; Young C; Slater C; Haslam S; Brydson M; Vincent A; Beeson D
    Brain; 2001 Jul; 124(Pt 7):1362-72. PubMed ID: 11408331
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.
    Sieb JP; Kraner S; Schrank B; Reitter B; Goebel TH; Tzartos SJ; Steinlein OK
    Ann Neurol; 2000 Sep; 48(3):379-83. PubMed ID: 10976646
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
    Andreux F; Hantaï D; Eymard B
    Rev Neurol (Paris); 2004 Feb; 160(2):163-76. PubMed ID: 15034473
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.
    Abicht A; Stucka R; Schmidt C; Briguet A; Höpfner S; Song IH; Pongratz D; Müller-Felber W; Ruegg MA; Lochmüller H
    Brain; 2002 May; 125(Pt 5):1005-13. PubMed ID: 11960891
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
    Milone M; Shen XM; Selcen D; Ohno K; Brengman J; Iannaccone ST; Harper CM; Engel AG
    Neurology; 2009 Jul; 73(3):228-35. PubMed ID: 19620612
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
    Shen XM; Ohno K; Fukudome T; Tsujino A; Brengman JM; De Vivo DC; Packer RJ; Engel AG
    Neurology; 2002 Dec; 59(12):1881-8. PubMed ID: 12499478
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.
    Shen XM; Ohno K; Sine SM; Engel AG
    Brain; 2005 Feb; 128(Pt 2):345-55. PubMed ID: 15615813
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.
    Croxen R; Newland C; Betty M; Vincent A; Newsom-Davis J; Beeson D
    Ann Neurol; 1999 Oct; 46(4):639-47. PubMed ID: 10514102
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
    Müller JS; Abicht A; Christen HJ; Stucka R; Schara U; Mortier W; Huebner A; Lochmüller H
    Neuromuscul Disord; 2004 Nov; 14(11):744-9. PubMed ID: 15482960
    [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 in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
    Azuma Y; Nakata T; Tanaka M; Shen XM; Ito M; Iwata S; Okuno T; Nomura Y; Ando N; Ishigaki K; Ohkawara B; Masuda A; Natsume J; Kojima S; Sokabe M; Ohno K
    Neuromuscul Disord; 2015 Jan; 25(1):60-9. PubMed ID: 25264167
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene.
    Bonanno C; Rodolico C; Töpf A; Foti FM; Liu WW; Beeson D; Toscano A; Lochmüller H
    Neuromuscul Disord; 2020 Apr; 30(4):336-339. PubMed ID: 32360402
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.