-
1
-
-
0036772381
-
The spectrum of congenital myasthenic syndromes
-
Ohno K, Engel AG, Sine S. The spectrum of congenital myasthenic syndromes. Mol Neurobiol 2002;26:347-367.
-
(2002)
Mol Neurobiol
, vol.26
, pp. 347-367
-
-
Ohno, K.1
Engel, A.G.2
Sine, S.3
-
2
-
-
0029807971
-
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit
-
Engel AG, Ohno K, Bouzat C, et al. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol 1996;40:810-817.
-
(1996)
Ann Neurol
, vol.40
, pp. 810-817
-
-
Engel, A.G.1
Ohno, K.2
Bouzat, C.3
-
3
-
-
0032722151
-
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly
-
Quiram PA, Ohno K, Milone M, et al. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest 1999;104:1403-1410.
-
(1999)
J Clin Invest
, vol.104
, pp. 1403-1410
-
-
Quiram, P.A.1
Ohno, K.2
Milone, M.3
-
4
-
-
0035511932
-
Induction, assembly, maturation and maintenance of a postsynaptic apparatus
-
Sanes J, Lichtman J. Induction, assembly, maturation and maintenance of a postsynaptic apparatus. Nat Neurosci Rev 2001;2:791-803.
-
(2001)
Nat Neurosci Rev
, vol.2
, pp. 791-803
-
-
Sanes, J.1
Lichtman, J.2
-
5
-
-
0036206747
-
Rapsyn mutations in humans cause endplate acetylcholine receptor deficiency and myasthenic syndrome
-
Ohno K, Engel AG, Shen X-M, et al. Rapsyn mutations in humans cause endplate acetylcholine receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002;70:875-885.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 875-885
-
-
Ohno, K.1
Engel, A.G.2
Shen, X.-M.3
-
6
-
-
1242267007
-
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients
-
Muller JS, Mildner G, Muller-Felber W, et al. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003;60:1805-1810.
-
(2003)
Neurology
, vol.60
, pp. 1805-1810
-
-
Muller, J.S.1
Mildner, G.2
Muller-Felber, W.3
-
7
-
-
0030219829
-
Cloning of cDNA encoding human rapsyn and mapping of the RAPSYN gene locus to chromosome 11p11.2-p11.1
-
Buckel A, Beeson D, James M, Vincent A. Cloning of cDNA encoding human rapsyn and mapping of the RAPSYN gene locus to chromosome 11p11.2-p11.1. Genomics 1996;35:613-616.
-
(1996)
Genomics
, vol.35
, pp. 613-616
-
-
Buckel, A.1
Beeson, D.2
James, M.3
Vincent, A.4
-
8
-
-
0031757685
-
Arthrogryposis multiplex congenita
-
Gordon N. Arthrogryposis multiplex congenita. Brain Dev 1998;20:507-511.
-
(1998)
Brain Dev
, vol.20
, pp. 507-511
-
-
Gordon, N.1
-
9
-
-
0024182263
-
Structural organization of the extraocular muscles
-
Spencer RF, Porter JD. Structural organization of the extraocular muscles. Rev Oculomot Res 1998;2:33-79.
-
(1998)
Rev Oculomot Res
, vol.2
, pp. 33-79
-
-
Spencer, R.F.1
Porter, J.D.2
-
10
-
-
0035852681
-
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
-
Ohno K, Tsujino A, Brengman JM, et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci USA 2001;98:2017-2022.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 2017-2022
-
-
Ohno, K.1
Tsujino, A.2
Brengman, J.M.3
|