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 *

155 related articles for article (PubMed ID: 25695962)

  • 21. Congenital myasthenic syndromes: gene mutation.
    Neuromuscul Disord; 1998 Oct; 8(7):XII-XIII. PubMed ID: 9829287
    [No Abstract]   [Full Text] [Related]  

  • 22. Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome.
    Ding Q; Shen D; Dai Y; Hu Y; Guan Y; Liu M; Cui L
    J Clin Neurosci; 2018 Feb; 48():229-232. PubMed ID: 29150079
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.
    Tay CG; Fong CY; Li L; Ganesan V; Teh CM; Gan CS; Thong MK
    J Clin Neurosci; 2020 Feb; 72():468-471. PubMed ID: 31831253
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
    Engel AG; Shen XM; Selcen D; Sine SM
    Lancet Neurol; 2015 Apr; 14(4):420-34. PubMed ID: 25792100
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
    Yeung WL; Lam CW; Ng PC
    Dev Med Child Neurol; 2010 Oct; 52(10):e243-4. PubMed ID: 20370815
    [No Abstract]   [Full Text] [Related]  

  • 27. 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]  

  • 28. The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
    Laforgia N; De Cosmo L; Palumbo O; Ranieri C; Sesta M; Capodiferro D; Pantaleo A; Iapicca P; Lastella P; Capozza M; Schettini F; Bukvic N; Bagnulo R; Resta N
    Genes (Basel); 2020 Dec; 11(12):. PubMed ID: 33353066
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Synaptic basal lamina-associated congenital myasthenic syndromes.
    Maselli RA; Arredondo J; Ferns MJ; Wollmann RL
    Ann N Y Acad Sci; 2012 Dec; 1275():36-48. PubMed ID: 23278576
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations.
    Pattrakornkul N; Ittiwut C; Boonsimma P; Boonyapisit K; Khongkhatithum C; Sanmaneechai O; Suphapeetiporn K; Shotelersuk V
    Neuromuscul Disord; 2020 Oct; 30(10):851-858. PubMed ID: 32978031
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse].
    Ohno K; Ito M; Masuda A
    Nihon Shinkei Seishin Yakurigaku Zasshi; 2009 Aug; 29(4):145-51. PubMed ID: 19764481
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.
    Barišić N; Chaouch A; Müller JS; Lochmüller H
    Eur J Paediatr Neurol; 2011 May; 15(3):189-96. PubMed ID: 21498094
    [TBL] [Abstract][Full Text] [Related]  

  • 34. COLQ-Related Congenital Myasthenic Syndrome in a Child from Western India.
    Pallithanam JJ; Prabhudesai SP; Naik N; Gauns S
    Neurol India; 2021; 69(1):228-229. PubMed ID: 33642313
    [No Abstract]   [Full Text] [Related]  

  • 35. 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]  

  • 36. Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
    Wargon I; Richard P; Kuntzer T; Sternberg D; Nafissi S; Gaudon K; Lebail A; Bauche S; Hantaï D; Fournier E; Eymard B; Stojkovic T
    Neuromuscul Disord; 2012 Apr; 22(4):318-24. PubMed ID: 22088788
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
    Aharoni S; Sadeh M; Shapira Y; Edvardson S; Daana M; Dor-Wollman T; Mimouni-Bloch A; Halevy A; Cohen R; Sagie L; Argov Z; Rabie M; Spiegel R; Chervinsky I; Orenstein N; Engel AG; Nevo Y
    Neuromuscul Disord; 2017 Feb; 27(2):136-140. PubMed ID: 28024842
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Congenital myasthenic syndrome from a
    McLean A; Wilson I
    Pract Neurol; 2024 May; 24(3):238-240. PubMed ID: 37985124
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
    Schara U; Christen HJ; Durmus H; Hietala M; Krabetz K; Rodolico C; Schreiber G; Topaloglu H; Talim B; Voss W; Pihko H; Abicht A; Müller JS; Lochmüller H
    Eur J Paediatr Neurol; 2010 Jul; 14(4):326-33. PubMed ID: 19900826
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.