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 *

220 related articles for article (PubMed ID: 9758617)

  • 1. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
    Donger C; Krejci E; Serradell AP; Eymard B; Bon S; Nicole S; Chateau D; Gary F; Fardeau M; Massoulié J; Guicheney P
    Am J Hum Genet; 1998 Oct; 63(4):967-75. PubMed ID: 9758617
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
    Matlik HN; Milhem RM; Saadeldin IY; Al-Jaibeji HS; Al-Gazali L; Ali BR
    Pediatr Neurol; 2014 Jul; 51(1):165-9. PubMed ID: 24938146
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
    Sigoillot SM; Bourgeois F; Karmouch J; Molgó J; Dobbertin A; Chevalier C; Houlgatte R; Léger J; Legay C
    FASEB J; 2016 Jun; 30(6):2382-99. PubMed ID: 26993635
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
    Ishigaki K; Nicolle D; Krejci E; Leroy JP; Koenig J; Fardeau M; Eymard B; Hantaï D
    Neuromuscul Disord; 2003 Mar; 13(3):236-44. PubMed ID: 12609505
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
    Nakata T; Ito M; Azuma Y; Otsuka K; Noguchi Y; Komaki H; Okumura A; Shiraishi K; Masuda A; Natsume J; Kojima S; Ohno K
    Hum Mutat; 2013 Jul; 34(7):997-1004. PubMed ID: 23553736
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
    Ohno K; Brengman J; Tsujino A; Engel AG
    Proc Natl Acad Sci U S A; 1998 Aug; 95(16):9654-9. PubMed ID: 9689136
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis.
    Ohno K; Ito M; Kawakami Y; Krejci E; Engel AG
    Chem Biol Interact; 2013 Mar; 203(1):335-40. PubMed ID: 22981737
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.
    Rinz CJ; Levine J; Minor KM; Humphries HD; Lara R; Starr-Moss AN; Guo LT; Williams DC; Shelton GD; Clark LA
    PLoS One; 2014; 9(8):e106425. PubMed ID: 25166616
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.
    Abitbol M; Hitte C; Bossé P; Blanchard-Gutton N; Thomas A; Martignat L; Blot S; Tiret L
    PLoS One; 2015; 10(9):e0137019. PubMed ID: 26327126
    [TBL] [Abstract][Full Text] [Related]  

  • 11. COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
    Arredondo J; Lara M; Ng F; Gochez DA; Lee DC; Logia SP; Nguyen J; Maselli RA
    Hum Genet; 2014 May; 133(5):599-616. PubMed ID: 24281389
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
    Ohno K; Engel AG; Brengman JM; Shen XM; Heidenreich F; Vincent A; Milone M; Tan E; Demirci M; Walsh P; Nakano S; Akiguchi I
    Ann Neurol; 2000 Feb; 47(2):162-70. PubMed ID: 10665486
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
    Müller JS; Petrova S; Kiefer R; Stucka R; König C; Baumeister SK; Huebner A; Lochmüller H; Abicht A
    Neuropediatrics; 2004 Jun; 35(3):183-9. PubMed ID: 15248101
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Targeting acetylcholinesterase to the neuromuscular synapse.
    Rotundo RL; Rossi SG; Kimbell LM; Ruiz C; Marrero E
    Chem Biol Interact; 2005 Dec; 157-158():15-21. PubMed ID: 16289417
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction.
    Ito M; Suzuki Y; Okada T; Fukudome T; Yoshimura T; Masuda A; Takeda S; Krejci E; Ohno K
    Mol Ther; 2012 Jul; 20(7):1384-92. PubMed ID: 22371845
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
    Ohno K; Brengman JM; Felice KJ; Cornblath DR; Engel AG
    Am J Hum Genet; 1999 Sep; 65(3):635-44. PubMed ID: 10441569
    [TBL] [Abstract][Full Text] [Related]  

  • 18. COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
    Hesami O; Ramezani M; Ghasemi A; Fatehi F; Okhovat AA; Ziaadini B; Kariminejad A; Nafissi S
    Orphanet J Rare Dis; 2024 Mar; 19(1):113. PubMed ID: 38475910
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.
    Ting AK; Siow NL; Kong LW; Tsim KW
    Chem Biol Interact; 2005 Dec; 157-158():63-70. PubMed ID: 16256971
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Developmental consequences of the ColQ/MuSK interactions.
    Karmouch J; Dobbertin A; Sigoillot S; Legay C
    Chem Biol Interact; 2013 Mar; 203(1):287-91. PubMed ID: 23089045
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.