BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 12481987)

  • 21. 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]  

  • 22. 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]  

  • 23. AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
    Faber CG; Molenaar PC; Vles JS; Bonifati DM; Verschuuren JJ; van Doorn PA; Kuks JB; Wokke JH; Beeson D; De Baets M
    J Neurol; 2009 Oct; 256(10):1719-23. PubMed ID: 19544078
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
    Gomez CM; Maselli RA; Vohra BP; Navedo M; Stiles JR; Charnet P; Schott K; Rojas L; Keesey J; Verity A; Wollmann RW; Lasalde-Dominicci J
    Ann Neurol; 2002 Jan; 51(1):102-12. PubMed ID: 11782989
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the growth hormone gene.
    McCormack BL; Chase CC; Olson TA; Elsasser TH; Hammond AC; Welsh TH; Jiang H; Randel RD; Okamura CA; Lucy MC
    Domest Anim Endocrinol; 2009 Aug; 37(2):104-11. PubMed ID: 19524387
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.
    Shen XM; Okuno T; Milone M; Otsuka K; Takahashi K; Komaki H; Giles E; Ohno K; Engel AG
    Hum Mutat; 2016 Oct; 37(10):1051-9. PubMed ID: 27375219
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.
    Shen XM; Brengman JM; Shen S; Durmus H; Preethish-Kumar V; Yuceyar N; Vengalil S; Nalini A; Deymeer F; Sine SM; Engel AG
    JCI Insight; 2018 Jan; 3(2):. PubMed ID: 29367459
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Positive response to inhaled salbutamol in congenital myasthenic syndrome due to CHRNE mutation.
    Garg D; Goyal V
    Muscle Nerve; 2022 Jul; 66(1):E1-E2. PubMed ID: 35466404
    [No Abstract]   [Full Text] [Related]  

  • 35. CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
    Freed AS; Schwarz AC; Brei BK; Clowes Candadai SV; Thies J; Mah JK; Chabra S; Wang L; Innes AM; Bennett JT
    Am J Med Genet A; 2021 Mar; 185(3):827-835. PubMed ID: 33296147
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.
    Outteryck O; Richard P; Lacour A; Fournier E; Zéphir H; Gaudon K; Eymard B; Hantaï D; Vermersch P; Stojkovic T
    J Neurol Neurosurg Psychiatry; 2009 Apr; 80(4):450-1. PubMed ID: 19289485
    [No Abstract]   [Full Text] [Related]  

  • 39. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
    Müller JS; Baumeister SK; Rasic VM; Krause S; Todorovic S; Kugler K; Müller-Felber W; Abicht A; Lochmüller H
    Neurology; 2006 Oct; 67(7):1159-64. PubMed ID: 16931511
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
    Michalk A; Stricker S; Becker J; Rupps R; Pantzar T; Miertus J; Botta G; Naretto VG; Janetzki C; Yaqoob N; Ott CE; Seelow D; Wieczorek D; Fiebig B; Wirth B; Hoopmann M; Walther M; Körber F; Blankenburg M; Mundlos S; Heller R; Hoffmann K
    Am J Hum Genet; 2008 Feb; 82(2):464-76. PubMed ID: 18252226
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.