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Results: 1 to 20 of 22

1.

Muscle channelopathies and critical points in functional and genetic studies.

Jurkat-Rott K, Lehmann-Horn F.

J Clin Invest. 2005 Aug;115(8):2000-9. Review.

PMID:
16075040
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

Beeson D, Hantaï D, Lochmüller H, Engel AG.

Neuromuscul Disord. 2005 Jul;15(7):498-512. No abstract available.

PMID:
15951177
[PubMed - indexed for MEDLINE]
3.

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman.

Rajab A, Hoffmann K, Ganesh A, Sethu AU, Mundlos S.

Am J Med Genet A. 2005 Apr 15;134A(2):151-7.

PMID:
15704180
[PubMed - indexed for MEDLINE]
4.

Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.

Engel AG, Ohno K, Shen XM, Sine SM.

Ann N Y Acad Sci. 2003 Sep;998:138-60. Review.

PMID:
14592871
[PubMed - indexed for MEDLINE]
5.

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, Nicolle M, Hilton-Jones D, Newsom-Davis J, Palace J, Beeson D.

Neurology. 2003 Sep 23;61(6):826-8.

PMID:
14504330
[PubMed - indexed for MEDLINE]
6.

Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.

van der Slot AJ, Zuurmond AM, Bardoel AF, Wijmenga C, Pruijs HE, Sillence DO, Brinckmann J, Abraham DJ, Black CM, Verzijl N, DeGroot J, Hanemaaijer R, TeKoppele JM, Huizinga TW, Bank RA.

J Biol Chem. 2003 Oct 17;278(42):40967-72. Epub 2003 Jul 24.

PMID:
12881513
[PubMed - indexed for MEDLINE]
Free Article
7.

Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.

Cox PM, Brueton LA, Bjelogrlic P, Pomroy P, Sewry CA.

Pediatr Dev Pathol. 2003 Jan-Feb;6(1):59-68. Epub 2002 Nov 7.

PMID:
12417929
[PubMed - indexed for MEDLINE]
8.

Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors.

Takahashi M, Kubo T, Mizoguchi A, Carlson CG, Endo K, Ohnishi K.

EMBO Rep. 2002 Jul;3(7):674-81.

PMID:
12101101
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D.

J Clin Invest. 2001 Jul;108(1):125-30.

PMID:
11435464
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis.

Polizzi A, Huson SM, Vincent A.

Teratology. 2000 Nov;62(5):332-41. Review.

PMID:
11029151
[PubMed - indexed for MEDLINE]
11.

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

Ohno K, Brengman J, Tsujino A, Engel AG.

Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9654-9.

PMID:
9689136
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases.

Froster UG, Stallmach T, Wisser J, Hebisch G, Robbiani MB, Huch R, Huch A.

Am J Med Genet. 1997 Jan 10;68(1):82-5.

PMID:
8986282
[PubMed - indexed for MEDLINE]
13.

The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo.

DeChiara TM, Bowen DC, Valenzuela DM, Simmons MV, Poueymirou WT, Thomas S, Kinetz E, Compton DL, Rojas E, Park JS, Smith C, DiStefano PS, Glass DJ, Burden SJ, Yancopoulos GD.

Cell. 1996 May 17;85(4):501-12.

PMID:
8653786
[PubMed - indexed for MEDLINE]
Free Article
14.

Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

Hesselmans LF, Jennekens FG, Van den Oord CJ, Veldman H, Vincent A.

Anat Rec. 1993 Jul;236(3):553-62.

PMID:
8363059
[PubMed - indexed for MEDLINE]
15.

Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor.

Vernet-der Garabedian B, Lacokova M, Eymard B, Morel E, Faltin M, Zajac J, Sadovsky O, Dommergues M, Tripon P, Bach JF.

J Clin Invest. 1994 Aug;94(2):555-9.

PMID:
8040310
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Structural basis of the different gating kinetics of fetal and adult acetylcholine receptors.

Bouzat C, Bren N, Sine SM.

Neuron. 1994 Dec;13(6):1395-402.

PMID:
7993630
[PubMed - indexed for MEDLINE]
17.

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen.

Vincent A, Newland C, Brueton L, Beeson D, Riemersma S, Huson SM, Newsom-Davis J.

Lancet. 1995 Jul 1;346(8966):24-5.

PMID:
7603140
[PubMed - indexed for MEDLINE]
18.

Differential expression patterns of five acetylcholine receptor subunit genes in rat muscle during development.

Kues WA, Sakmann B, Witzemann V.

Eur J Neurosci. 1995 Jun 1;7(6):1376-85.

PMID:
7582112
[PubMed - indexed for MEDLINE]
19.

Limb pterygium syndromes: a review and report of eleven patients.

Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM.

Am J Med Genet. 1982 Aug;12(4):377-409.

PMID:
7124793
[PubMed - indexed for MEDLINE]
20.

The lethal multiple pterygium syndromes.

Hall JG.

Am J Med Genet. 1984 Apr;17(4):803-7. No abstract available.

PMID:
6539071
[PubMed - indexed for MEDLINE]

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