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Items: 1 to 20 of 377

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.

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
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.

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.

5.
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
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
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
9.

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
10.

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
11.

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.

12.

[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
13.

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
14.

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
15.

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
16.

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.

Abicht A, Stucka R, Schmidt C, Briguet A, Höpfner S, Song IH, Pongratz D, Müller-Felber W, Ruegg MA, Lochmüller H.

Brain. 2002 May;125(Pt 5):1005-13.

PMID:
11960891
17.

Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.

Croxen R, Newland C, Betty M, Vincent A, Newsom-Davis J, Beeson D.

Ann Neurol. 1999 Oct;46(4):639-47.

PMID:
10514102
18.

Antibodies affecting ion channel function in acquired neuromyotonia, in seropositive and seronegative myasthenia gravis, and in antibody-mediated arthrogryposis multiplex congenita.

Vincent A, Jacobson L, Plested P, Polizzi A, Tang T, Riemersma S, Newland C, Ghorazian S, Farrar J, MacLennan C, Willcox N, Beeson D, Newsom-Davis J.

Ann N Y Acad Sci. 1998 May 13;841:482-96. Review.

PMID:
9668280
19.

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroğlu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG.

Neurology. 1999 Sep 22;53(5):1076-82.

PMID:
10496269
20.

[Genetic defects and disorders at the neuromuscular junction].

Ohno K.

Brain Nerve. 2011 Jul;63(7):669-78. Review. Japanese.

PMID:
21747136

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