Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 148

1.

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. doi: 10.1016/j.nmd.2011.09.002. Epub 2011 Nov 15.

PMID:
22088788
2.

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. doi: 10.1093/brain/awm325. Epub 2008 Jan 7.

3.

Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.

Schreiner F, Hoppenz M, Klaeren R, Reimann J, Woelfle J.

Neuromuscul Disord. 2007 Mar;17(3):262-5. Epub 2007 Feb 14.

PMID:
17300939
4.

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.

PMID:
15248101
5.

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. doi: 10.1016/j.pediatrneurol.2014.03.012. Epub 2014 Mar 22.

PMID:
24938146
6.

Recurrent COLQ mutation in congenital myasthenic syndrome.

Guven A, Demirci M, Anlar B.

Pediatr Neurol. 2012 Apr;46(4):253-6. doi: 10.1016/j.pediatrneurol.2012.02.003.

PMID:
22490774
7.

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG.

Neurology. 2002 Feb 26;58(4):603-9.

PMID:
11865139
8.

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].

Andreux F, Hantaï D, Eymard B.

Rev Neurol (Paris). 2004 Feb;160(2):163-76. Review. French.

PMID:
15034473
9.

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.

PMID:
12609505
10.

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.

11.

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. doi: 10.1002/humu.22325. Epub 2013 Apr 19.

PMID:
23553736
12.

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Béhin A, Laforêt P, Servais L, Romero N, Fardeau M, Hantaï D; Membres du réseau national Syndromes Myasthéniques Congénitaux.

Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S45-55. doi: 10.1016/S0035-3787(13)70060-2. Review. French.

PMID:
23452772
13.

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.

Bestue-Cardiel M, Sáenz de Cabezón-Alvarez A, Capablo-Liesa JL, López-Pisón J, Peña-Segura JL, Martin-Martinez J, Engel AG.

Neurology. 2005 Jul 12;65(1):144-6.

PMID:
16009904
14.

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. doi: 10.1111/j.1469-8749.2010.03663.x. Epub 2010 Mar 29. No abstract available.

15.

Further observations in congenital myasthenic syndromes.

Engel AG, Shen XM, Selcen D, Sine SM.

Ann N Y Acad Sci. 2008;1132:104-13. doi: 10.1196/annals.1405.039. Review.

16.

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A.

Neurology. 2003 Jun 10;60(11):1805-10.

PMID:
12796535
17.
18.

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 Aug 28;9(8):e106425. doi: 10.1371/journal.pone.0106425. eCollection 2014.

19.

Congenital myasthenic syndromes.

Hantaï D, Richard P, Koenig J, Eymard B.

Curr Opin Neurol. 2004 Oct;17(5):539-51. Review.

PMID:
15367858
20.

Developmental consequences of the ColQ/MuSK interactions.

Karmouch J, Dobbertin A, Sigoillot S, Legay C.

Chem Biol Interact. 2013 Mar 25;203(1):287-91. doi: 10.1016/j.cbi.2012.10.006. Epub 2012 Oct 23. Review.

PMID:
23089045
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk