| 1 | CHRNE, CMS4A
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| Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.
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| Santos E, Moreira I, Coutinho E, Gonçalves G, Lopes C, Lopes Lima J, Leite MI.
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| Neuromuscul Disord 25(12):928-31. doi: 10.1016/j.nmd.2015.08.001. Epub 2015 Aug 6.
2015
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| 2 | CHRNE, CMS4A
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| How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.
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| Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S.
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| Arch Dis Child 99(6):539-42. doi: 10.1136/archdischild-2013-304788. Epub 2014 Feb 5.
2014
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| 3 | CHRNE
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| Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
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| Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J, Beeson D.
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| Muscle Nerve 47(2):279-82. doi: 10.1002/mus.23534. Epub 2012 Dec 28.
2013
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| 4 | CHRNE, CMS4A
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| A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
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| Webster R, Maxwell S, Spearman H, Tai K, Beckstein O, Sansom M, Beeson D.
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| Brain 135(Pt 4):1070-80. doi: 10.1093/brain/aws016. Epub 2012 Mar 1.
2012
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| 5 | CHRNE
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| Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel.
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| Piccari V, Deflorio C, Bigi R, Grassi F, Fucile S.
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| Cell Calcium 49(4):272-8. doi: 10.1016/j.ceca.2011.03.002. Epub 2011 Apr 5.
2011
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| 6 | CHRNE, CMS4A
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| Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
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| Salih MA, Oystreck DT, Al-Faky YH, Kabiraj M, Omer MI, Subahi EM, Beeson D, Abu-Amero KK, Bosley TM.
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| J Neuroophthalmol 31(1):42-7. doi: 10.1097/WNO.0b013e3181f50bea.
2011
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| 7 | CHRNE
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| Chromatin modifications that support acetylcholine receptor gene activation are established during muscle cell determination and differentiation.
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| Herndon CA, Snell J, Fromm L.
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| Mol Biol Rep 38(2):1277-85. doi: 10.1007/s11033-010-0227-7. Epub 2010 Jun 24.
2011
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| 8 | CHRNE, CMS4A
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| A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.
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| Richard P, Gaudon K, Fournier E, Jackson C, Bauché S, Haddad H, Koenig J, Echenne B, Hantaï D, Eymard B.
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| Neuromuscul Disord 17(5):409-14. Epub 2007 Mar 23.
2007
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| 9 | CHRNE
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| Postsynaptic chromatin is under neural control at the neuromuscular junction.
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| Ravel-Chapuis A, Vandromme M, Thomas JL, Schaeffer L.
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| EMBO J 26(4):1117-28. Epub 2007 Feb 15.
2007
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| 10 | CHRNE
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| An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
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| Muller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmuller H, Abicht A.
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| Neurology 65(3):463-5. 2005
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| 11 | CHRNE, CMS4A
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| An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X).
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| Soltanzadeh P, Muller JS, Ghorbani A, Abicht A, Lochmuller H, Soltanzadeh A.
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| J Neurol Neurosurg Psychiatry 76(7):1039-40. No abstract available. 2005
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| 12 | CHRNE
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| A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.
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| Ohno K, Milone M, Shen XM, Engel AG.
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| Hum Mol Genet 12(23):3055-66. Epub 2003 Oct 07. 2003
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| 13 | CHRNE
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| Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
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| Ealing J, Webster R, Brownlow S, Abdelgany A, Oosterhuis H, Muntoni F, Vaux DJ, Vincent A, Beeson D.
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| Hum Mol Genet 11(24):3087-96. 2002
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| 14 | CHRNE, CMS4A
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| A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.
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| Abicht A, Stucka R, Schmidt C, Briguet A, Hopfner S, Song IH, Pongratz D, Muller-Felber W, Ruegg MA, Lochmuller H.
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| Brain 125(Pt 5):1005-13. 2002
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| 15 | CHRNE, CMS4A
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| Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations.
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| Sieb JP, Kraner S, Rauch M, Steinlein OK.
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| Hum Genet 107(2):160-4. 2000
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| 16 | CHRNE, CMS4A
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| Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.
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| Nichols P, et al.
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| Ann Neurol 45(4):439-43. 1999
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| 17 | CHRNE, CMS4A
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| A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
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| Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horvath R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Muller-Felber W, Pongratz D, Rudel R, Lochmuller H.
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| Neurology 53(7):1564-9. 1999
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| 18 | CHRNE, CMS4A
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| Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.
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| Ohno K, et al.
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| Ann Neurol 44 : 234-241. 1998
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| 19 | CHRNE, CMS4A
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| Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
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| 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.
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| Hum Mol Genet 6(5):753-66. 1997
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| 20 | CHRNA1, CHRNB1, CHRND, CHRNE, CMS1A, CMS2B, CMS4A
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| New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
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| Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM.
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| Hum Mol Genet 5 : 1217-1227. 1996
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| 21 | CHRNE, CMS4A
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| Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
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| Ohno K, et al.
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| Neuron 17 : 157-170. 1996
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| 22 | CHRNE, CMS4A
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| End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.
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| Engel AG, et al.
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| Ann Neurol 40 : 810-817. 1996
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| 23 | CHRNE, NRG1
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| Identification of an element crucial for the sub-synaptic expression of the acetylcholine receptor epsilon-subunit gene.
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| Duclert A, Savatier N, Schaeffer L, Changeux JP.
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| J Biol Chem 271(29):17433-8. 1996
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| 24 | CHRNE, CMS4A
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| Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
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| Ohno K, et al.
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| Proc Natl Acad Sci U S A 92 : 758-762. 1995
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| 25 | CHRNE, D17S1175
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| D17S1175 : dinucleotide repeat polymorphism 5' to CHRNE.
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| Betty M, et al.
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| Hum Mol Genet 3 : 2083. 1994
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| 26 | CHRNE
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| Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17.
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| Lobos EA.
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| Genomics 17 : 642-650. 1993
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