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Results: 1 to 20 of 146

1.

Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.

Milhem RM, Al-Gazali L, Ali BR.

Int J Biochem Cell Biol. 2015 Jan 3;60C:119-129. doi: 10.1016/j.biocel.2014.12.015. [Epub ahead of print]

PMID:
25562515
[PubMed - as supplied by publisher]
2.

Congenital Myasthenic Syndrome caused by mutations in DPAGT.

Klein A, Robb S, Rushing E, Liu WW, Belaya K, Beeson D.

Neuromuscul Disord. 2014 Nov 26. pii: S0960-8966(14)00697-X. doi: 10.1016/j.nmd.2014.11.013. [Epub ahead of print]

PMID:
25500013
[PubMed - as supplied by publisher]
3.

Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome.

Zhu H, Grajales-Reyes GE, Alicea-Vázquez V, Grajales-Reyes JG, Robinson K, Pytel P, Báez-Pagán CA, Lasalde-Dominicci JA, Gomez CM.

Exp Neurol. 2014 Oct 23. pii: S0014-4886(14)00344-6. doi: 10.1016/j.expneurol.2014.10.008. [Epub ahead of print]

PMID:
25448156
[PubMed - as supplied by publisher]
4.

Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.

Azuma Y, Nakata T, Tanaka M, Shen XM, Ito M, Iwata S, Okuno T, Nomura Y, Ando N, Ishigaki K, Ohkawara B, Masuda A, Natsume J, Kojima S, Sokabe M, Ohno K.

Neuromuscul Disord. 2015 Jan;25(1):60-9. doi: 10.1016/j.nmd.2014.09.002. Epub 2014 Sep 10.

PMID:
25264167
[PubMed - in process]
5.

[Anesthetic management of scoliosis surgery for a patient with congenital myasthenic syndrome].

Emura M, Ishii H, Baba H.

Masui. 2014 Aug;63(8):911-4. Japanese.

PMID:
25199331
[PubMed - indexed for MEDLINE]
6.

Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

Das AS, Agamanolis DP, Cohen BH.

Pediatr Neurol. 2014 Nov;51(5):717-20. doi: 10.1016/j.pediatrneurol.2014.07.032. Epub 2014 Aug 6.

PMID:
25194721
[PubMed - in process]
7.

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.

PMID:
25166616
[PubMed - in process]
Free PMC Article
8.

[Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].

Nishikawa A, Mori-Yoshimura M, Okamoto T, Oya Y, Nakata T, Ohno K, Murata M.

Rinsho Shinkeigaku. 2014;54(7):561-4. Japanese.

PMID:
25087557
[PubMed - in process]
9.

Familial Dok7 congenital myasthenic syndrome responsive to salbutamol.

Maramattom BV, Patil R, Thomas J.

Neurol India. 2014 May-Jun;62(3):313. doi: 10.4103/0028-3886.136999. No abstract available.

PMID:
25033858
[PubMed - indexed for MEDLINE]
Free Article
10.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PMID:
24951643
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - in process]
12.

Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

Witting N, Vissing J.

JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. Review.

PMID:
24425145
[PubMed - indexed for MEDLINE]
13.

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.

Webster R, Liu WW, Chaouch A, Lochmüller H, Beeson D.

Neuromuscul Disord. 2014 Feb;24(2):143-7. doi: 10.1016/j.nmd.2013.10.009. Epub 2013 Nov 6.

PMID:
24295813
[PubMed - indexed for MEDLINE]
14.

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. Epub 2013 Aug 7.

PMID:
24183479
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

Maggi L, Brugnoni R, Scaioli V, Winden TL, Morandi L, Engel AG, Mantegazza R, Bernasconi P.

J Neurol. 2013 Oct 12. [Epub ahead of print] No abstract available.

PMID:
24122059
[PubMed - as supplied by publisher]
16.

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA.

Neuromuscul Disord. 2013 Nov;23(11):883-91. doi: 10.1016/j.nmd.2013.06.002. Epub 2013 Jul 3.

PMID:
23831158
[PubMed - indexed for MEDLINE]
17.

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC.

J Neurol Sci. 2013 Aug 15;331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19.

PMID:
23790237
[PubMed - indexed for MEDLINE]
18.

Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome.

Peyer AK, Abicht A, Heinimann K, Sinnreich M, Fischer D.

Neuromuscul Disord. 2013 Jul;23(7):571-4. doi: 10.1016/j.nmd.2013.04.001. Epub 2013 May 18.

PMID:
23688972
[PubMed - indexed for MEDLINE]
19.

Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.

Lorenzoni PJ, Scola RH, Kay CS, Lochmüller H, Werneck LC.

Muscle Nerve. 2013 Jul;48(1):151-2. doi: 10.1002/mus.23724. Epub 2013 May 9. No abstract available.

PMID:
23657916
[PubMed - indexed for MEDLINE]
20.

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Basiri K, Belaya K, Liu WW, Maxwell S, Sedghi M, Beeson D.

Neuromuscul Disord. 2013 Jun;23(6):469-72. doi: 10.1016/j.nmd.2013.03.003. Epub 2013 Apr 13.

PMID:
23591138
[PubMed - indexed for MEDLINE]
Free PMC Article

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