Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 85

1.

186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

Chaouch A, Beeson D, Hantaï D, Lochmüller H.

Neuromuscul Disord. 2012 Jun;22(6):566-76. doi: 10.1016/j.nmd.2011.12.004. Epub 2012 Jan 9. No abstract available.

PMID:
22230109
[PubMed - indexed for MEDLINE]
2.

Congenital myasthenic syndromes in 2012.

Engel AG.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. Review.

PMID:
21997714
[PubMed - indexed for MEDLINE]
3.

Fetal akinesia: review of the genetics of the neuromuscular causes.

Ravenscroft G, Sollis E, Charles AK, North KN, Baynam G, Laing NG.

J Med Genet. 2011 Dec;48(12):793-801. doi: 10.1136/jmedgenet-2011-100211. Epub 2011 Oct 7. Review.

PMID:
21984750
[PubMed - indexed for MEDLINE]
4.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H.

J Neurol. 2011 Oct 6. [Epub ahead of print]

PMID:
21975507
[PubMed - as supplied by publisher]
5.

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. Epub 2011 Sep 23.

PMID:
21952943
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Clinical features in a series of fast channel congenital myasthenia syndrome.

Palace J, Lashley D, Bailey S, Jayawant S, Carr A, McConville J, Robb S, Beeson D.

Neuromuscul Disord. 2012 Feb;22(2):112-7. doi: 10.1016/j.nmd.2011.08.002. Epub 2011 Sep 21.

PMID:
21940170
[PubMed - indexed for MEDLINE]
7.

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.

Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H.

J Neurol. 2012 Mar;259(3):474-81. doi: 10.1007/s00415-011-6204-9. Epub 2011 Aug 7.

PMID:
21822932
[PubMed - indexed for MEDLINE]
8.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H.

Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008.

PMID:
21310273
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Myasthenic syndrome caused by plectinopathy.

Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG.

Neurology. 2011 Jan 25;76(4):327-36. doi: 10.1212/WNL.0b013e31820882bd.

PMID:
21263134
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P.

Am J Hum Genet. 2010 Dec 10;87(6):834-41. doi: 10.1016/j.ajhg.2010.10.017. Epub 2010 Nov 25.

PMID:
21109228
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.

Gaudon K, Pénisson-Besnier I, Chabrol B, Bouhour F, Demay L, Ben Ammar A, Bauché S, Vial C, Nicolas G, Eymard B, Hantaï D, Richard P.

J Med Genet. 2010 Dec;47(12):795-6. doi: 10.1136/jmg.2010.081034. Epub 2010 Oct 7.

PMID:
20930056
[PubMed - indexed for MEDLINE]
12.

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H.

Neuromuscul Disord. 2010 Nov;20(11):709-11. doi: 10.1016/j.nmd.2010.06.003. Epub 2010 Jul 10.

PMID:
20624679
[PubMed - indexed for MEDLINE]
13.

DOK7 mutations presenting as a proximal myopathy in French Canadians.

Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B.

Neuromuscul Disord. 2010 Jul;20(7):453-7. doi: 10.1016/j.nmd.2010.05.007. Epub 2010 Jun 17.

PMID:
20610155
[PubMed - indexed for MEDLINE]
14.

The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.

Bergamin E, Hallock PT, Burden SJ, Hubbard SR.

Mol Cell. 2010 Jul 9;39(1):100-9. doi: 10.1016/j.molcel.2010.06.007.

PMID:
20603078
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
20458068
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.

Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110. Epub 2010 Apr 6.

PMID:
20371544
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Sodium channelopathies of skeletal muscle result from gain or loss of function.

Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F.

Pflugers Arch. 2010 Jul;460(2):239-48. doi: 10.1007/s00424-010-0814-4. Epub 2010 Mar 17. Review.

PMID:
20237798
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B.

J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11.

PMID:
20012313
[PubMed - indexed for MEDLINE]
19.

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V.

Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9. No abstract available.

PMID:
19949040
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk