-
1
-
-
0018943586
-
Clinical, pathological HLA antigen and immunological evidence for disease heterogeneity in myasthenia gravis
-
Compston DAS, Vincent A, Newsom-Davis J, Batchelor JR. Clinical, pathological HLA antigen and immunological evidence for disease heterogeneity in myasthenia gravis. Brain 1980;103:579-601.
-
(1980)
Brain
, vol.103
, pp. 579-601
-
-
Compston, D.A.S.1
Vincent, A.2
Newsom-Davis, J.3
Batchelor, J.R.4
-
2
-
-
0032589388
-
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. Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. Ann Neurol 1999;46:639-647.
-
(1999)
Ann Neurol
, vol.46
, pp. 639-647
-
-
Croxen, R.1
Newland, C.2
Betty, M.3
Vincent, A.4
Newsom-Davis, J.5
Beeson, D.6
-
3
-
-
0037188407
-
Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations
-
Croxen R, Vincent A, Newsom-Davis J, Beeson D. Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations. Neurology 2002;58:1563-1565.
-
(2002)
Neurology
, vol.58
, pp. 1563-1565
-
-
Croxen, R.1
Vincent, A.2
Newsom-Davis, J.3
Beeson, D.4
-
4
-
-
0026792780
-
Immunoglobulin heavy chain gene associations in myasthenia gravis: New evidence for disease heterogeneity
-
Demaine A, Willcox N, Janer M, Welsh K, Newsom-Davis J. Immunoglobulin heavy chain gene associations in myasthenia gravis: new evidence for disease heterogeneity. J Neurol 1992;239:53-56.
-
(1992)
J Neurol
, vol.239
, pp. 53-56
-
-
Demaine, A.1
Willcox, N.2
Janer, M.3
Welsh, K.4
Newsom-Davis, J.5
-
5
-
-
0031195502
-
Association of the AChR alpha-subunit gene (CHRNA), DQA1*0101, and the DR3 haplotype in myasthenia gravis. Evidence for a three-gene disease model in a subgroup of patients
-
Djabiri F, Caillat-Zucman S, Gajdos P, Jais JP, Gomez L, Khalil I, Charron D, Bach JF, Garchon HJ. Association of the AChR alpha-subunit gene (CHRNA), DQA1*0101, and the DR3 haplotype in myasthenia gravis. Evidence for a three-gene disease model in a subgroup of patients. J Autoimmun 1997; 10:407-413.
-
(1997)
J Autoimmun
, vol.10
, pp. 407-413
-
-
Djabiri, F.1
Caillat-Zucman, S.2
Gajdos, P.3
Jais, J.P.4
Gomez, L.5
Khalil, I.6
Charron, D.7
Bach, J.F.8
Garchon, H.J.9
-
6
-
-
0037112742
-
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. Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR. Hum Mol Genet 2002;11:3087-3096.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3087-3096
-
-
Ealing, J.1
Webster, R.2
Brownlow, S.3
Abdelgany, A.4
Oosterhuis, H.5
Muntoni, F.6
Vaux, D.J.7
Vincent, A.8
Beeson, D.9
-
7
-
-
10144229353
-
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
-
Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN II, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1996;5:1217-1227.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1217-1227
-
-
Engel, A.G.1
Ohno, K.2
Milone, M.3
Wang, H.L.4
Nakano, S.5
Bouzat, C.6
Pruitt II, J.N.7
Hutchinson, D.O.8
Brengman, J.M.9
Bren, N.10
Sieb, J.P.11
Sine, S.M.12
-
8
-
-
0037233692
-
Congenital myasthenic syndromes: Progress over the past decade
-
Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve 2003; 27:4-25.
-
(2003)
Muscle Nerve
, vol.27
, pp. 4-25
-
-
Engel, A.G.1
Ohno, K.2
Sine, S.M.3
-
9
-
-
0028364453
-
Involvement of human muscle acetylcholine receptor alpha-subunit gene (CHRNA) in susceptibility to myasthenia gravis
-
Garchon HJ, Djabiri F, Viard JP, Gajdos P, Bach JF. Involvement of human muscle acetylcholine receptor alpha-subunit gene (CHRNA) in susceptibility to myasthenia gravis. Proc Natl Acad Sci USA 1994;91:4668-4672.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 4668-4672
-
-
Garchon, H.J.1
Djabiri, F.2
Viard, J.P.3
Gajdos, P.4
Bach, J.F.5
-
10
-
-
0029906439
-
Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects
-
Heckmann JM, Morrison KE, Emeryk-Szajewska B, Strugalska H, Bergoffen J, Willcox N, Newsom-Davis J. Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects. J Autoimmun 1996;9:175-180.
-
(1996)
J Autoimmun
, vol.9
, pp. 175-180
-
-
Heckmann, J.M.1
Morrison, K.E.2
Emeryk-Szajewska, B.3
Strugalska, H.4
Bergoffen, J.5
Willcox, N.6
Newsom-Davis, J.7
-
11
-
-
0032146353
-
Polymorphism in tumor necrosis factor genes associated with myasthenia gravis
-
Hjehllstrom P, Peacock CS, Giscombe R, Pirskanen R, Lefvert AK, Blackwell JM, Sanjeevi CB. Polymorphism in tumor necrosis factor genes associated with myasthenia gravis. J Neuroimmunol 1998;88:137-143.
-
(1998)
J Neuroimmunol
, vol.88
, pp. 137-143
-
-
Hjehllstrom, P.1
Peacock, C.S.2
Giscombe, R.3
Pirskanen, R.4
Lefvert, A.K.5
Blackwell, J.M.6
Sanjeevi, C.B.7
-
12
-
-
0032146465
-
Genetic association of Ctla-4 to myasthenia gravis with thymoma
-
Huang D, Liu L, Noren K, Xia SQ, Trifunovic J, Pirskanen R, Lefvert AK. Genetic association of Ctla-4 to myasthenia gravis with thymoma. J Neuroimmunol 1998;88:192-198.
-
(1998)
J Neuroimmunol
, vol.88
, pp. 192-198
-
-
Huang, D.1
Liu, L.2
Noren, K.3
Xia, S.Q.4
Trifunovic, J.5
Pirskanen, R.6
Lefvert, A.K.7
-
13
-
-
0032701528
-
Polymorphisms at -174 and in the 3′ flanking region of interleukin-6 (IL-6) gene in patients with myasthenia gravis
-
Huang D, Zheng C, Giscombe R, Matell G, Pirskanen R, Lefvert AK. Polymorphisms at -174 and in the 3′ flanking region of interleukin-6 (IL-6) gene in patients with myasthenia gravis. J Neuroimmunol 1999;101:197-200.
-
(1999)
J Neuroimmunol
, vol.101
, pp. 197-200
-
-
Huang, D.1
Zheng, C.2
Giscombe, R.3
Matell, G.4
Pirskanen, R.5
Lefvert, A.K.6
-
14
-
-
0032879076
-
A susceptibility region for myasthenia gravis extending into the HLA-class I sector telomeric to HLA-C
-
Janer M, Cowland A, Picard J, Campbell D, Pontarotti P, Newsom-Davis J, Bunce M, Welsh K, Demaine A, Wilson AG, Willcox N. A susceptibility region for myasthenia gravis extending into the HLA-class I sector telomeric to HLA-C. Hum Immunol 1999;60:909-917.
-
(1999)
Hum Immunol
, vol.60
, pp. 909-917
-
-
Janer, M.1
Cowland, A.2
Picard, J.3
Campbell, D.4
Pontarotti, P.5
Newsom-Davis, J.6
Bunce, M.7
Welsh, K.8
Demaine, A.9
Wilson, A.G.10
Willcox, N.11
-
16
-
-
0033817038
-
Immature endplates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations
-
Sieb JP, Kraner S, Rauch M, Steinlein OK. Immature endplates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. Hum Genet 2000;107:160-164.
-
(2000)
Hum Genet
, vol.107
, pp. 160-164
-
-
Sieb, J.P.1
Kraner, S.2
Rauch, M.3
Steinlein, O.K.4
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