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Items: 1 to 20 of 96

1.

Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.

Chan SH, Wong VC, Engel AG.

Pediatr Neurol. 2012 Aug;47(2):137-40. doi: 10.1016/j.pediatrneurol.2012.04.022.

2.

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
3.

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.

Liewluck T, Selcen D, Engel AG.

Muscle Nerve. 2011 Nov;44(5):789-94. doi: 10.1002/mus.22176.

4.

[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
5.

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.

PMID:
18180250
6.

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.

PMID:
17300939
7.

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
8.

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.

PMID:
24938146
9.

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.

Tsao CY.

Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Review.

PMID:
26552645
10.

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
11.

COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy.

Padmanabha H, Saini AG, Sankhyan N, Singhi P.

J Clin Neuromuscul Dis. 2017 Mar;18(3):162-163. doi: 10.1097/CND.0000000000000160. No abstract available.

PMID:
28221310
12.

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
13.

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 Sep 1;10(9):e0137019. doi: 10.1371/journal.pone.0137019.

14.

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.

PMID:
22088788
15.

Congenital myasthenic syndromes.

Harper CM.

Semin Neurol. 2004 Mar;24(1):111-23. Review.

PMID:
15229798
16.

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. doi: 10.1002/mus.22153.

17.

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
18.

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A.

Neuromuscul Disord. 2014 Jan;24(1):31-5. doi: 10.1016/j.nmd.2013.08.002.

19.

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.

20.

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. No abstract available.

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