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 *

111 related articles for article (PubMed ID: 14592869)

  • 1. Congenital myasthenic syndrome in cattle due to homozygosity for a truncating mutation in the acetylcholine receptor (AChR) epsilon-subunit gene.
    Sieb JP; Kraner S; Thompson PN; Steinlein OK
    Ann N Y Acad Sci; 2003 Sep; 998():125-7. PubMed ID: 14592869
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
    Engel AG; Ohno K; Shen XM; Sine SM
    Ann N Y Acad Sci; 2003 Sep; 998():138-60. PubMed ID: 14592871
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 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. Mechanistic diversity underlying fast channel congenital myasthenic syndromes.
    Sine SM; Wang HL; Ohno K; Shen XM; Lee WY; Engel AG
    Ann N Y Acad Sci; 2003 Sep; 998():128-37. PubMed ID: 14592870
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
    Beeson D; Webster R; Ealing J; Croxen R; Brownlow S; Brydson M; Newsom-Davis J; Slater C; Hatton C; Shelley C; Colquhoun D; Vincent A
    Ann N Y Acad Sci; 2003 Sep; 998():114-24. PubMed ID: 14592868
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening.
    Peter C; Korngreen A; Witzemann V
    Pflugers Arch; 2005 Jun; 450(3):178-84. PubMed ID: 15864502
    [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. 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]  

  • 12. 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]  

  • 13. Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
    Ealing J; Webster R; Brownlow S; Abdelgany A; Oosterhuis H; Muntoni F; Vaux DJ; Vincent A; Beeson D
    Hum Mol Genet; 2002 Nov; 11(24):3087-96. PubMed ID: 12417530
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 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. Congenital myasthenic syndrome of Brahman cattle in South Africa.
    Thompson PN; Steinlein OK; Harper CK; Kraner S; Sieb JP; Guthrie AJ
    Vet Rec; 2003 Dec 20-27; 153(25):779-81. PubMed ID: 14735994
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.
    Shen XM; Di L; Shen S; Zhao Y; Neumeyer AM; Selcen D; Sine SM; Engel AG
    Exp Neurol; 2020 Sep; 331():113375. PubMed ID: 32504635
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.