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 *

249 related articles for article (PubMed ID: 23278579)

  • 1. Synaptic dysfunction in congenital myasthenic syndromes.
    Beeson D
    Ann N Y Acad Sci; 2012 Dec; 1275():63-9. PubMed ID: 23278579
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
    Müller JS; Mihaylova V; Abicht A; Lochmüller H
    Expert Rev Mol Med; 2007 Aug; 9(22):1-20. PubMed ID: 17686188
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
    Chevessier F; Girard E; Molgó J; Bartling S; Koenig J; Hantaï D; Witzemann V
    Hum Mol Genet; 2008 Nov; 17(22):3577-95. PubMed ID: 18718936
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
    Mihaylova V; Müller JS; Vilchez JJ; Salih MA; Kabiraj MM; D'Amico A; Bertini E; Wölfle J; Schreiner F; Kurlemann G; Rasic VM; Siskova D; Colomer J; Herczegfalvi A; Fabriciova K; Weschke B; Scola R; Hoellen F; Schara U; Abicht A; Lochmüller H
    Brain; 2008 Mar; 131(Pt 3):747-59. PubMed ID: 18180250
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
    Tsao CY
    Pediatr Neurol; 2016 Jan; 54():85-7. PubMed ID: 26552645
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
    Cossins J; Liu WW; Belaya K; Maxwell S; Oldridge M; Lester T; Robb S; Beeson D
    Hum Mol Genet; 2012 Sep; 21(17):3765-75. PubMed ID: 22661499
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MUSK, a new target for mutations causing congenital myasthenic syndrome.
    Chevessier F; Faraut B; Ravel-Chapuis A; Richard P; Gaudon K; Bauché S; Prioleau C; Herbst R; Goillot E; Ioos C; Azulay JP; Attarian S; Leroy JP; Fournier E; Legay C; Schaeffer L; Koenig J; Fardeau M; Eymard B; Pouget J; Hantaï D
    Hum Mol Genet; 2004 Dec; 13(24):3229-40. PubMed ID: 15496425
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital myasthenic syndromes: progress over the past decade.
    Engel AG; Ohno K; Sine SM
    Muscle Nerve; 2003 Jan; 27(1):4-25. PubMed ID: 12508290
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital myasthenic syndromes: A diverse array of molecular targets.
    Engel AG; Ohno K; Sine SM
    J Neurocytol; 2003; 32(5-8):1017-37. PubMed ID: 15034283
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
    Chevessier F; Faraut B; Ravel-Chapuis A; Richard P; Gaudon K; Bauché S; Prioleau C; Herbst R; Goillot E; Ioos C; Azulay JP; Attarian S; Leroy JP; Fournier E; Legay C; Schaeffer L; Koenig J; Fardeau M; Eymard B; Pouget J; Hantaï D
    J Soc Biol; 2005; 199(1):61-77. PubMed ID: 16114265
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel congenital myasthenic syndromes associated with defects in quantal release.
    Milone M; Fukuda T; Shen XM; Tsujino A; Brengman J; Engel AG
    Neurology; 2006 Apr; 66(8):1223-9. PubMed ID: 16525123
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Current understanding of congenital myasthenic syndromes.
    Engel AG; Sine SM
    Curr Opin Pharmacol; 2005 Jun; 5(3):308-21. PubMed ID: 15907919
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. Dok-7 mutations underlie a neuromuscular junction synaptopathy.
    Beeson D; Higuchi O; Palace J; Cossins J; Spearman H; Maxwell S; Newsom-Davis J; Burke G; Fawcett P; Motomura M; Müller JS; Lochmüller H; Slater C; Vincent A; Yamanashi Y
    Science; 2006 Sep; 313(5795):1975-8. PubMed ID: 16917026
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. DOK7 congenital myasthenic syndrome.
    Palace J
    Ann N Y Acad Sci; 2012 Dec; 1275():49-53. PubMed ID: 23278577
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.
    Chevessier F; Faraut B; Ravel-Chapuis A; Richard P; Gaudon K; Bauché S; Prioleau C; Herbst R; Goillot E; Ioos C; Azulay JP; Attarian S; Leroy JP; Fournier E; Legay C; Schaeffer L; Koenig J; Fardeau M; Eymard B; Pouget J; Hantaï D
    Acta Myol; 2005 Oct; 24(2):55-9. PubMed ID: 16550915
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
    Banwell BL; Ohno K; Sieb JP; Engel AG
    Neuromuscul Disord; 2004 Mar; 14(3):202-7. PubMed ID: 15036330
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.