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Items: 1 to 20 of 122

1.

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.

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.

PMID:
18180250
3.

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.

Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller JS, Lochmüller H.

Neuromuscul Disord. 2009 Dec;19(12):828-32. doi: 10.1016/j.nmd.2009.09.008. Epub 2009 Oct 17.

PMID:
19837590
4.

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
5.

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
6.

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
7.

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
8.

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
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.

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
11.

Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis.

Duran GS, Uzunhan TA, Ekici B, Çıtak A, Aydınlı N, Çalışkan M.

Acta Neurol Belg. 2013 Dec;113(4):531-2. doi: 10.1007/s13760-013-0179-5. Epub 2013 Jan 31. No abstract available.

PMID:
23371844
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.

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
14.

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

Lashley D, Palace J, Jayawant S, Robb S, Beeson D.

Neurology. 2010 May 11;74(19):1517-23. doi: 10.1212/WNL.0b013e3181dd43bf.

15.

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. doi: 10.1111/j.1749-6632.2012.06807.x. Review.

PMID:
23278576
16.

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
17.

Congenital myasthenic syndromes.

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

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

PMID:
15367858
18.

[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
19.

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. doi: 10.1096/fj.201500162. Epub 2016 Mar 18.

20.

[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. Review. Japanese.

PMID:
19764481

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