Congenital myasthenic syndromes - New insights from molecular genetic and patch-clamp studies

[1] PATIENTS WITH CONGENITAL MYASTHENIA ASSOCIATED WITH END-PLATE ACETYLCHOLINESTERASE DEFICIENCY SHOW NORMAL SEQUENCE, MESSENGER-RNA SPLICING, AND ASSEMBLY OF CATALYTIC SUBUNITS [J]. JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (01) : 333 - 340

[2] Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome [J]. HUMAN MOLECULAR GENETICS, 1997, 6 (05) : 767 - 774

[3] The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo [J]. CELL, 1996, 85 (04) : 501 - 512

[4] Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice [J]. JOURNAL OF CELL BIOLOGY, 1997, 136 (04) : 883 - 894

[5] Engel A G, 1987, Electroencephalogr Clin Neurophysiol Suppl, V39, P91

[6] THE INVESTIGATION OF CONGENITAL MYASTHENIC SYNDROMES [J]. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1993, 681 : 425 - 434

[7] A NEWLY RECOGNIZED CONGENITAL MYASTHENIC SYNDROME ATTRIBUTED TO A PROLONGED OPEN TIME OF THE ACETYLCHOLINE-INDUCED ION CHANNEL [J]. ANNALS OF NEUROLOGY, 1982, 11 (06) : 553 - 569

[8] New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (09) : 1217 - 1227

[9] NEW MYASTHENIC SYNDROME WITH ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY, SMALL NERVE-TERMINALS, AND REDUCED ACETYLCHOLINE-RELEASE [J]. ANNALS OF NEUROLOGY, 1977, 1 (04) : 315 - 330

[10] End plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit [J]. ANNALS OF NEUROLOGY, 1996, 40 (05) : 810 - 817

[1] PATIENTS WITH CONGENITAL MYASTHENIA ASSOCIATED WITH END-PLATE ACETYLCHOLINESTERASE DEFICIENCY SHOW NORMAL SEQUENCE, MESSENGER-RNA SPLICING, AND ASSEMBLY OF CATALYTIC SUBUNITS [J]. JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (01) : 333 - 340

[2] Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome [J]. HUMAN MOLECULAR GENETICS, 1997, 6 (05) : 767 - 774

[3] The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo [J]. CELL, 1996, 85 (04) : 501 - 512

[4] Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice [J]. JOURNAL OF CELL BIOLOGY, 1997, 136 (04) : 883 - 894

[5] Engel A G, 1987, Electroencephalogr Clin Neurophysiol Suppl, V39, P91

[6] THE INVESTIGATION OF CONGENITAL MYASTHENIC SYNDROMES [J]. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1993, 681 : 425 - 434

[7] A NEWLY RECOGNIZED CONGENITAL MYASTHENIC SYNDROME ATTRIBUTED TO A PROLONGED OPEN TIME OF THE ACETYLCHOLINE-INDUCED ION CHANNEL [J]. ANNALS OF NEUROLOGY, 1982, 11 (06) : 553 - 569

[8] New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (09) : 1217 - 1227

[9] NEW MYASTHENIC SYNDROME WITH ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY, SMALL NERVE-TERMINALS, AND REDUCED ACETYLCHOLINE-RELEASE [J]. ANNALS OF NEUROLOGY, 1977, 1 (04) : 315 - 330

[10] End plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit [J]. ANNALS OF NEUROLOGY, 1996, 40 (05) : 810 - 817