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Results: 1 to 20 of 379

1.

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
2.

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.

Croxen R, Young C, Slater C, Haslam S, Brydson M, Vincent A, Beeson D.

Brain. 2001 Jul;124(Pt 7):1362-72.

PMID:
11408331
[PubMed - indexed for MEDLINE]
Free Article
3.

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
4.

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.

Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006.

PMID:
18252226
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

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

Brain. 2005 Feb;128(Pt 2):345-55. Epub 2004 Dec 22.

PMID:
15615813
[PubMed - indexed for MEDLINE]
Free Article
6.

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.

Beeson D, Webster R, Ealing J, Croxen R, Brownlow S, Brydson M, Newsom-Davis J, Slater C, Hatton C, Shelley C, Colquhoun D, Vincent A.

Ann N Y Acad Sci. 2003 Sep;998:114-24.

PMID:
14592868
[PubMed - indexed for MEDLINE]
7.

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG.

Neurology. 2002 Dec 24;59(12):1881-8.

PMID:
12499478
[PubMed - indexed for MEDLINE]
8.

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.

Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG.

Hum Mol Genet. 1997 May;6(5):753-66.

PMID:
9158150
[PubMed - indexed for MEDLINE]
Free Article
9.

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER.

Am J Hum Genet. 2006 Aug;79(2):390-5. Epub 2006 Jun 20.

PMID:
16826531
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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]
11.

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

Ealing J, Webster R, Brownlow S, Abdelgany A, Oosterhuis H, Muntoni F, Vaux DJ, Vincent A, Beeson D.

Hum Mol Genet. 2002 Nov 15;11(24):3087-96.

PMID:
12417530
[PubMed - indexed for MEDLINE]
Free Article
12.

Maturation of the acetylcholine receptor in skeletal muscle: regulation of the AChR gamma-to-epsilon switch.

Missias AC, Chu GC, Klocke BJ, Sanes JR, Merlie JP.

Dev Biol. 1996 Oct 10;179(1):223-38.

PMID:
8873766
[PubMed - indexed for MEDLINE]
Free Article
13.

[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]
14.

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Ohno K, Engel AG.

Curr Neurol Neurosci Rep. 2002 Jan;2(1):78-88. Review.

PMID:
11898587
[PubMed - indexed for MEDLINE]
15.

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A.

Brain. 2006 Oct;129(Pt 10):2784-93. Epub 2006 Aug 17.

PMID:
16916845
[PubMed - indexed for MEDLINE]
Free Article
16.

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]
17.

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M.

Am J Hum Genet. 2002 Apr;70(4):875-85. Epub 2002 Jan 14.

PMID:
11791205
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Congenital myasthenic syndromes: progress over the past decade.

Engel AG, Ohno K, Sine SM.

Muscle Nerve. 2003 Jan;27(1):4-25. Review.

PMID:
12508290
[PubMed - indexed for MEDLINE]
19.

Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.

Nichols P, Croxen R, Vincent A, Rutter R, Hutchinson M, Newsom-Davis J, Beeson D.

Ann Neurol. 1999 Apr;45(4):439-43.

PMID:
10211467
[PubMed - indexed for MEDLINE]
20.

Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle.

Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, Criado M, Hofmann M, Sakmann B.

Eur J Biochem. 1990 Dec 12;194(2):437-48.

PMID:
1702709
[PubMed - indexed for MEDLINE]
Free Article

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