-
1
-
-
18744401389
-
Current understanding of congenital myasthenic syndromes
-
& review
-
Engel, A.G. & S.M. Sine. 2005. Current understanding of congenital myasthenic syndromes review Curr. Opin. Pharmacol. 5 : 308 321.
-
(2005)
Curr. Opin. Pharmacol.
, vol.5
, pp. 308-321
-
-
Engel, A.G.1
Sine, S.M.2
-
2
-
-
21244453035
-
126th International Workshop: Congenital Myasthenic Syndromes, 24-26 September 2004 Naarden, the Netherlands
-
&
-
Beeson, D., D. Hantai, H. Lochmuller & A.G. Engel. 2005. 126th International Workshop: Congenital Myasthenic Syndromes, 24-26 September 2004 Naarden, the Netherlands. Neuromuscul. Disord. 15 : 498 512.
-
(2005)
Neuromuscul. Disord.
, vol.15
, pp. 498-512
-
-
Beeson, D.1
Hantai, D.2
Lochmuller, H.3
Engel, A.G.4
-
3
-
-
33746474596
-
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
-
Morgan, N.V., L.A. Brueton, P. Cox, et al. 2006. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet. 79 : 390 395.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 390-395
-
-
Morgan, N.V.1
Brueton, L.A.2
Cox, P.3
-
4
-
-
0035511932
-
Induction, assembly, maturation and maintenance of a postsynaptic apparatus
-
&
-
Sanes J.R. & J.W. Lichtman. 2001. Induction, assembly, maturation and maintenance of a postsynaptic apparatus. Nat. Rev. Neurosci. 2 : 791 805.
-
(2001)
Nat. Rev. Neurosci.
, vol.2
, pp. 791-805
-
-
Sanes, J.R.1
Lichtman, J.W.2
-
5
-
-
1842613541
-
Nerve-independent formation of a topologically complex postsynaptic apparatus
-
&
-
Kummer T.T., T. Misgeld, J.W. Lichtman & J.R. Sanes. 2004. Nerve-independent formation of a topologically complex postsynaptic apparatus. J. Cell Biol. 164 : 1077 1087.
-
(2004)
J. Cell Biol.
, vol.164
, pp. 1077-1087
-
-
Kummer, T.T.1
Misgeld, T.2
Lichtman, J.W.3
Sanes, J.R.4
-
6
-
-
33745495950
-
The muscle protein Dok-7 is essential for neuromuscular synaptogenesis
-
Okada, K., A. Inoue, M. Okada, et al. 2006. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science 312 : 1802 1805.
-
(2006)
Science
, vol.312
, pp. 1802-1805
-
-
Okada, K.1
Inoue, A.2
Okada, M.3
-
7
-
-
0036206747
-
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
-
Ohno, K., A.G. Engel, X.M. Shen, et al. 2002. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet. 70 : 875 885.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 875-885
-
-
Ohno, K.1
Engel, A.G.2
Shen, X.M.3
-
8
-
-
2442533155
-
Distinct phenotypes of congenital acetylcholine receptor deficiency
-
Burke, G., J. Cossins, S. Maxwell, et al. 2004. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscular Disord. 14 : 356 364.
-
(2004)
Neuromuscular Disord.
, vol.14
, pp. 356-364
-
-
Burke, G.1
Cossins, J.2
Maxwell, S.3
-
9
-
-
33749488034
-
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
-
Cossins, J., G. Burke, S. Maxwell, et al. 2006. Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. Brain 129 : 2773 2783.
-
(2006)
Brain
, vol.129
, pp. 2773-2783
-
-
Cossins, J.1
Burke, G.2
Maxwell, S.3
-
10
-
-
33749862204
-
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
-
Müller, J.S., S.K. Baumeister, V.M. Rasic, et al. 2006. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 67 : 1159 1164.
-
(2006)
Neurology
, vol.67
, pp. 1159-1164
-
-
Müller, J.S.1
Baumeister, S.K.2
Rasic, V.M.3
-
11
-
-
0035831437
-
Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering
-
&
-
Ramarao, M.K., M.J. Bianchetta, J. Lanken & J.B. Cohen. 2001. Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering. J. Biol. Chem. 276 : 7475 7483.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 7475-7483
-
-
Ramarao, M.K.1
Bianchetta, M.J.2
Lanken, J.3
Cohen, J.B.4
-
12
-
-
0031866190
-
The zinc finger domain of the 43-kDa receptor-associated protein rapsyn: Role in acetylcholine receptor clustering
-
&
-
Bezakova, G. & R.J. Bloch. 1998. The zinc finger domain of the 43-kDa receptor-associated protein rapsyn: role in acetylcholine receptor clustering. Mol. Cell Neurosci. 11 : 274 288.
-
(1998)
Mol. Cell Neurosci.
, vol.11
, pp. 274-288
-
-
Bezakova, G.1
Bloch, R.J.2
-
13
-
-
13844307115
-
Deletion of N-terminal rapsyn domains disrupts clustering and has dominant negative effects on clustering of full-length rapsyn
-
&
-
Eckler, S.A., R. Kuehn & M. Gautam. 2005. Deletion of N-terminal rapsyn domains disrupts clustering and has dominant negative effects on clustering of full-length rapsyn. Neuroscience 131 : 661 670.
-
(2005)
Neuroscience
, vol.131
, pp. 661-670
-
-
Eckler, S.A.1
Kuehn, R.2
Gautam, M.3
-
14
-
-
33747883025
-
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia.'
-
Slater, C.R., P.R. Fawcett, T.J. Walls, et al. 2006. Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia.' Brain 129 : 2061 2076.
-
(2006)
Brain
, vol.129
, pp. 2061-2076
-
-
Slater, C.R.1
Fawcett, P.R.2
Walls, T.J.3
-
15
-
-
33749068357
-
Dok-7 mutations underlie a neuromuscular junction synaptopathy
-
Beeson, D., O. Higuchi, J. Palace, et al. 2006. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313 : 1975 1978.
-
(2006)
Science
, vol.313
, pp. 1975-1978
-
-
Beeson, D.1
Higuchi, O.2
Palace, J.3
-
16
-
-
34250881487
-
Clinical features of the DOK7 neuromuscular junction synaptopathy
-
Palace, J., D. Lashley, J. Newsom-Davis, et al. 2007. Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain 130 : 1507 1515.
-
(2007)
Brain
, vol.130
, pp. 1507-1515
-
-
Palace, J.1
Lashley, D.2
Newsom-Davis, J.3
-
17
-
-
34250880117
-
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
-
Muller, J., A. Herczegfalvi, J. Vilchez, et al. 2007. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 130 : 1497 1506.
-
(2007)
Brain
, vol.130
, pp. 1497-1506
-
-
Muller, J.1
Herczegfalvi, A.2
Vilchez, J.3
-
18
-
-
0013887972
-
Familial limb-girdle myasthenia
-
McQuillen, M.P. 1966. Familial limb-girdle myasthenia. Brain 89 : 121 132.
-
(1966)
Brain
, vol.89
, pp. 121-132
-
-
McQuillen, M.P.1
-
19
-
-
0018074575
-
Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features
-
&
-
Dobkin, B.H. & M.A. Verity. 1978. Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features. Neurology 28 : 1135 1140.
-
(1978)
Neurology
, vol.28
, pp. 1135-1140
-
-
Dobkin, B.H.1
Verity, M.A.2
-
20
-
-
0030978563
-
Familial limb-girdle myasthenia with tubular aggregates
-
Furui, E., K. Fukushima, T. Sakashita, et al. 1997. Familial limb-girdle myasthenia with tubular aggregates. Muscle Nerve 20 : 599 603.
-
(1997)
Muscle Nerve
, vol.20
, pp. 599-603
-
-
Furui, E.1
Fukushima, K.2
Sakashita, T.3
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