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Results: 1 to 20 of 96

1.

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]
2.

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.

Webster RG, Cossins J, Lashley D, Maxwell S, Liu WW, Wickens JR, Martinez-Martinez P, de Baets M, Beeson D.

Exp Neurol. 2013 Oct;248:286-98. doi: 10.1016/j.expneurol.2013.06.012. Epub 2013 Jun 21.

PMID:
23797154
[PubMed - indexed for MEDLINE]
3.

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine.

Harper CM, Fukodome T, Engel AG.

Neurology. 2003 May 27;60(10):1710-3.

PMID:
12771277
[PubMed - indexed for MEDLINE]
4.

Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine.

Colomer J, Müller JS, Vernet A, Nascimento A, Pons M, Gonzalez V, Abicht A, Lochmüller H.

Neuromuscul Disord. 2006 May;16(5):329-33. Epub 2006 Apr 18.

PMID:
16621558
[PubMed - indexed for MEDLINE]
5.

[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
[PubMed - indexed for MEDLINE]
6.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D.

Neuromuscul Disord. 2004 Jan;14(1):24-32.

PMID:
14659409
[PubMed - indexed for MEDLINE]
7.

Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.

Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J.

Ann Neurol. 2002 Jan;51(1):102-12.

PMID:
11782989
[PubMed - indexed for MEDLINE]
8.

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.

Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J, Beeson D.

Muscle Nerve. 2013 Feb;47(2):279-82. doi: 10.1002/mus.23534. Epub 2012 Dec 28.

PMID:
23281026
[PubMed - indexed for MEDLINE]
9.

Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation.

Navedo MF, Lasalde-Dominicci JA, Báez-Pagán CA, Díaz-Pérez L, Rojas LV, Maselli RA, Staub J, Schott K, Zayas R, Gomez CM.

Mol Cell Neurosci. 2006 May-Jun;32(1-2):82-90. Epub 2006 Apr 19.

PMID:
16624571
[PubMed - indexed for MEDLINE]
10.

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.

Barišić N, Chaouch A, Müller JS, Lochmüller H.

Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn.2011.03.006. Epub 2011 Apr 17. Review.

PMID:
21498094
[PubMed - indexed for MEDLINE]
11.

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.

Banwell BL, Ohno K, Sieb JP, Engel AG.

Neuromuscul Disord. 2004 Mar;14(3):202-7.

PMID:
15036330
[PubMed - indexed for MEDLINE]
12.

Congenital myasthenic syndromes.

Harper CM.

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

PMID:
15229798
[PubMed - indexed for MEDLINE]
13.

Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.

Outteryck O, Richard P, Lacour A, Fournier E, Zéphir H, Gaudon K, Eymard B, Hantaï D, Vermersch P, Stojkovic T.

J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):450-1. doi: 10.1136/jnnp.2008.148189. No abstract available.

PMID:
19289485
[PubMed - indexed for MEDLINE]
14.

[Neurophysiological study in slow-channel congenital myasthenic syndrome: case report].

Lorenzoni PJ, Kay CS, Arruda WO, Scola RH, Werneck LC.

Arq Neuropsiquiatr. 2006 Jun;64(2A):318-21. Epub 2006 Jun 9. Portuguese.

PMID:
16791378
[PubMed - indexed for MEDLINE]
Free Article
15.

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.

Sieb JP, Kraner S, Schrank B, Reitter B, Goebel TH, Tzartos SJ, Steinlein OK.

Ann Neurol. 2000 Sep;48(3):379-83.

PMID:
10976646
[PubMed - indexed for MEDLINE]
16.

Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.

Witoonpanich R, Pulkes T, Dejthevaporn C, Yodnopklao P, Witoonpanich P, Wetchaphanphesat S, Brengman JM, Engel AG.

Neuromuscul Disord. 2011 Mar;21(3):214-8. doi: 10.1016/j.nmd.2010.12.006. Erratum in: Neuromuscul Disord. 2012 May;22(5):478.

PMID:
21316238
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S.

Am J Hum Genet. 2006 Aug;79(2):303-12. Epub 2006 Jun 20.

PMID:
16826520
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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]
19.

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H.

Neurology. 1999 Oct 22;53(7):1564-9.

PMID:
10534268
[PubMed - indexed for MEDLINE]
20.

Congenital myasthenic syndromes.

Engel AG.

Handb Clin Neurol. 2008;91:285-331. doi: 10.1016/S0072-9752(07)01510-2. Review. No abstract available.

PMID:
18631848
[PubMed - indexed for MEDLINE]

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