-
1
-
-
0032589722
-
A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin
-
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 (1999) A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 53:1564-1569 (Pubitemid 29491954)
-
(1999)
Neurology
, vol.53
, Issue.7
, pp. 1564-1569
-
-
Abicht, A.1
Stucka, R.2
Karcagi, V.3
Herczegfalvi, A.4
Horvath, R.5
Mortier, W.6
Schara, U.7
Ramaekers, V.8
Jost, W.9
Brunner, J.10
Janssen, G.11
Seidel, U.12
Schlotter, B.13
Muller-Felber, W.14
Pongratz, D.15
Rudel, R.16
Lochmuller, H.17
-
2
-
-
21244453035
-
126th International workshop: Congenital myasthenic syndromes
-
24-26 September 2004, Naarden, the NetherlandsDOI 10.1016/j.nmd.2005.05. 001, PII S0960896605001471
-
Beeson D, Hantai D, Lochmuller H, Engel AG (2005) 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord 15:498-512 (Pubitemid 40884475)
-
(2005)
Neuromuscular Disorders
, vol.15
, Issue.7
, pp. 498-512
-
-
Beeson, D.1
Hantai, D.2
Lochmuller, H.3
Engel, A.G.4
-
3
-
-
33646585179
-
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine
-
Colomer J, Muller JS, Vernet A, Nascimento A, Pons M, Gonzalez V, Abicht A, Lochmuller H (2006) Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. Neuromuscul Disord 16:329-333
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 329-333
-
-
Colomer, J.1
Muller, J.S.2
Vernet, A.3
Nascimento, A.4
Pons, M.5
Gonzalez, V.6
Abicht, A.7
Lochmuller, H.8
-
4
-
-
33947497536
-
The therapy of congenital myasthenic syndromes
-
DOI 10.1016/j.nurt.2007.01.001, PII S1933721307000025
-
Engel AG (2007) The therapy of congenital myasthenic syndromes. Neurotherapeutics 4:252-257 (Pubitemid 46467536)
-
(2007)
Neurotherapeutics
, vol.4
, Issue.2
, pp. 252-257
-
-
Engel, A.G.1
-
5
-
-
0020047892
-
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel
-
DOI 10.1002/ana.410110603
-
Engel AG, Lambert EH, Mulder DM, Torres CF, Sahashi K, Bertorini TE, Whitaker JN (1982) A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol 11:553-569 (Pubitemid 12116416)
-
(1982)
Annals of Neurology
, vol.11
, Issue.6
, pp. 553-569
-
-
Engel, A.G.1
Lambert, E.H.2
Mulder, D.M.3
-
6
-
-
10144229353
-
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
-
DOI 10.1093/hmg/5.9.1217
-
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 (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 5:1217-1227 (Pubitemid 26335838)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.9
, 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
-
7
-
-
18744401389
-
Current understanding of congenital myasthenic syndromes
-
DOI 10.1016/j.coph.2004.12.007, PII S1471489205000433
-
Engel AG, Sine SM (2005) Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 5:308-321 (Pubitemid 40674255)
-
(2005)
Current Opinion in Pharmacology
, vol.5
, Issue.3 SPEC. ISS.
, pp. 308-321
-
-
Engel, A.G.1
Sine, S.M.2
-
8
-
-
0032103142
-
Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor
-
Fukudome T, Ohno K, Brengman JM, Engel AG (1998) Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Neuroreport 9:1907-1911 (Pubitemid 28289208)
-
(1998)
NeuroReport
, vol.9
, Issue.8
, pp. 1907-1911
-
-
Fukudome, T.1
Ohno, K.2
Brengman, J.M.3
Engel, A.G.4
-
9
-
-
0036135172
-
Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms
-
DOI 10.1002/ana.10077
-
Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J (2002) Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol 51:102-112 (Pubitemid 34027982)
-
(2002)
Annals of Neurology
, vol.51
, Issue.1
, pp. 102-112
-
-
Gomez, C.M.1
Maselli, R.A.2
Vohra, B.P.S.3
Navedo, M.4
Stiles, J.R.5
Charnet, P.6
Schott, K.7
Rojas, L.8
Keesey, J.9
Verity, A.10
Wollmann, R.W.11
Lasalde-Dominicci, J.12
-
10
-
-
6944237264
-
Congenital myasthenic syndromes
-
DOI 10.1097/00019052-200410000-00004
-
Hantai D, Richard P, Koenig J, Eymard B (2004) Congenital myasthenic syndromes. Curr Opin Neurol 17:539-551 (Pubitemid 39410870)
-
(2004)
Current Opinion in Neurology
, vol.17
, Issue.5
, pp. 539-551
-
-
Hantai, D.1
Richard, P.2
Koenig, J.3
Eymard, B.4
-
11
-
-
0031749640
-
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome
-
DOI 10.1002/ana.410430411
-
Harper CM, Engel AG (1998) Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Ann Neurol 43:480-484 (Pubitemid 28231723)
-
(1998)
Annals of Neurology
, vol.43
, Issue.4
, pp. 480-484
-
-
Harper, C.M.1
Engel, A.G.2
-
12
-
-
0031927397
-
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome
-
DOI 10.1111/j.1749-6632.1998.tb10929.x
-
Harper CM, Engel AG (1998) Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome. Ann NY Acad Sci 841:203-206 (Pubitemid 28362849)
-
(1998)
Annals of the New York Academy of Sciences
, vol.841
, pp. 203-206
-
-
Harper, C.M.1
Engel, A.G.2
-
13
-
-
0038476135
-
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine
-
Harper CM, Fukodome T, Engel AG (2003) Treatment of slowchannel congenital myasthenic syndrome with fluoxetine. Neurology 60:1710-1713 (Pubitemid 36618113)
-
(2003)
Neurology
, vol.60
, Issue.10
, pp. 1710-1713
-
-
Harper, C.M.1
Fukodome, T.2
Engel, A.G.3
-
14
-
-
51649123667
-
Congenital myasthenic syndromes in childhood: Diagnostic and management challenges
-
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA (2008) Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 201-202:6-12
-
(2008)
J Neuroimmunol
, vol.201-202
, pp. 6-12
-
-
Kinali, M.1
Beeson, D.2
Pitt, M.C.3
Jungbluth, H.4
Simonds, A.K.5
Aloysius, A.6
Cockerill, H.7
Davis, T.8
Palace, J.9
Manzur, A.Y.10
Jimenez-Mallebrera, C.11
Sewry, C.12
Muntoni, F.13
Robb, S.A.14
-
15
-
-
77956621589
-
Molecular characterisation of congenital myasthenic syndromes in southern brazil
-
Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Muller JS, Lochmuller H (2010) Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. J Neurol Neurosurg Psychiatry 81:973-977
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 973-977
-
-
Mihaylova, V.1
Scola, R.H.2
Gervini, B.3
Lorenzoni, P.J.4
Kay, C.K.5
Werneck, L.C.6
Stucka, R.7
Guergueltcheva, V.8
Von Der Hagen, M.9
Huebner, A.10
Abicht, A.11
Muller, J.S.12
Lochmuller, H.13
-
16
-
-
34547905761
-
Congenital myasthenic syndromes: Spotlight on genetic defects of neuromuscular transmission
-
DOI 10.1017/S1462399407000427, PII S1462399407000427
-
Muller JS, Mihaylova V, Abicht A, Lochmuller H (2007) Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med 9:1-20 (Pubitemid 47261141)
-
(2007)
Expert Reviews in Molecular Medicine
, vol.9
, Issue.22
, pp. 1-20
-
-
Muller, J.S.1
Mihaylova, V.2
Abicht, A.3
Lochmuller, H.4
-
17
-
-
64749102383
-
Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome
-
Outteryck O, Richard P, Lacour A, Fournier E, Zephir H, Gaudon K, Eymard B, Hantai D, Vermersch P, Stojkovic T (2009) Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome. J Neurol Neurosurg Psychiatry 80:450-451
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 450-451
-
-
Outteryck, O.1
Richard, P.2
Lacour, A.3
Fournier, E.4
Zephir, H.5
Gaudon, K.6
Eymard, B.7
Hantai, D.8
Vermersch, P.9
Stojkovic, T.10
-
18
-
-
53049097589
-
Therapeutic strategies in congenital myasthenic syndromes
-
Schara U, Lochmuller H (2008) Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics 5:542-547
-
(2008)
Neurotherapeutics
, vol.5
, pp. 542-547
-
-
Schara, U.1
Lochmuller, H.2
-
19
-
-
0029087136
-
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
-
Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG (1995) Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 15:229-239
-
(1995)
Neuron
, vol.15
, pp. 229-239
-
-
Sine, S.M.1
Ohno, K.2
Bouzat, C.3
Auerbach, A.4
Milone, M.5
Pruitt, J.N.6
Engel, A.G.7
-
20
-
-
14744285328
-
Are the SSRIs and atypical antidepressants safe and effective for children and adolescents?
-
Whittington CJ, Kendall T, Pilling S (2005) Are the SSRIs and atypical antidepressants safe and effective for children and adolescents? Curr Opin Psychiatry 18:21-25 (Pubitemid 40332014)
-
(2005)
Current Opinion in Psychiatry
, vol.18
, Issue.1
, pp. 21-25
-
-
Whittington, C.J.1
Kendall, T.2
Pilling, S.3
|