Authors:
OHNO K
QUIRAM PA
MILONE M
WANG HL
HARPER MC
PRUITT JN
BRENGMAN JM
PAO L
FISCHBECK KH
CRAWFORD TO
SINE SM
ENGEL AG
Citation: K. Ohno et al., CONGENITAL MYASTHENIC SYNDROMES DUE TO HETEROALLELIC NONSENSE MISSENSE MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR EPSILON-SUBUNIT GENE - IDENTIFICATION AND FUNCTIONAL-CHARACTERIZATION OF 6 NEW MUTATIONS/, Human molecular genetics, 6(5), 1997, pp. 753-766
Authors:
MILONE M
WANG HL
OHNO K
FUKUDOME T
PRUITT JN
BREN N
SINE SM
ENGEL AG
Citation: M. Milone et al., SLOW-CHANNEL MYASTHENIC SYNDROME CAUSED BY ENHANCED ACTIVATION, DESENSITIZATION, AND AGONIST BINDING-AFFINITY ATTRIBUTABLE TO MUTATION IN THE M2 DOMAIN OF THE ACETYLCHOLINE-RECEPTOR ALPHA-SUBUNIT, The Journal of neuroscience, 17(15), 1997, pp. 5651-5665
Authors:
OHNO K
QUIRAM PA
MILONE M
WANG HL
HARPER CM
PRUITT JN
BRENGMAN JM
PAO L
FISCHBECK K
CRAWFORD TA
SINE SM
ENGEL AG
FISCHBECK KH
Citation: K. Ohno et al., CONGENITAL MYASTHENIC SYNDROMES (CMS) DUE TO HETEROALLELIC NONSENSE MISSENSE MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR (ACHR) EPSILON-SUBUNITGENE - REPORT OF 5 NEW MUTATIONS/, Neurology, 48(3), 1997, pp. 1003-1003
Authors:
ENGEL AG
OHNO K
MILONE M
WANG HL
NAKANO S
BOUZAT C
PRUITT JN
HUTCHINSON DO
BRENGMAN JM
BREN N
SIEB JP
SINE SM
Citation: Ag. Engel et al., NEW MUTATIONS IN ACETYLCHOLINE-RECEPTOR SUBUNIT GENES REVEAL HETEROGENEITY IN THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME, Human molecular genetics, 5(9), 1996, pp. 1217-1227
Authors:
OHNO K
WANG HL
MILONE M
BREN N
BRENGMAN JM
NAKANO S
QUIRAM P
PRUITT JN
SINE SM
ENGEL AG
Citation: K. Ohno et al., CONGENITAL MYASTHENIC SYNDROME CAUSED BY DECREASED AGONIST BINDING-AFFINITY DUE TO A MUTATION IN THE ACETYLCHOLINE-RECEPTOR EPSILON-SUBUNIT, Neuron, 17(1), 1996, pp. 157-170
Authors:
MILONE M
OHNO K
WANG HL
FUKUDOME T
PRUITT JN
SINE SM
ENGEL AG
Citation: M. Milone et al., NOVEL SLOW-CHANNEL SYNDROME DUE TO MUTATION IN THE ACETYLCHOLINE-RECEPTOR (ACHR) ALPHA-SUBUNIT WITH INCREASED CONDUCTANCE, NANOMOLAR AFFINITY FOR ACETYLCHOLINE, AND PROLONGED OPEN DURATIONS OF THE ACHR CHANNEL, Annals of neurology, 40(6), 1996, pp. 9-9
Citation: Jn. Pruitt et al., SPORADIC INCLUSION-BODY MYOSITIS - COUNTS OF DIFFERENT TYPES OF ABNORMAL FIBERS, Annals of neurology, 39(1), 1996, pp. 139-143
Authors:
OHNO K
MILONE M
WANG HL
NAKANO S
HUTCHINSON D
PRUITT JN
BRENGMAN JM
BERN N
SIEB J
SINE SM
ENGEL AG
Citation: K. Ohno et al., IDENTIFICATION OF NEUROMUSCULAR-JUNCTION ACETYLCHOLINE-RECEPTOR MUTATIONS IN THE SLOW CHANNEL CONGENITAL MYASTHENIC SYNDROME, Neurology, 46(2), 1996, pp. 12001-12001
Authors:
SINE SM
OHNO K
BOUZAT C
AUERBACH A
MILONE M
PRUITT JN
ENGEL AG
Citation: Sm. Sine et al., MUTATION OF THE ACETYLCHOLINE-RECEPTOR ALPHA-SUBUNIT CAUSES A SLOW-CHANNEL MYASTHENIC SYNDROME BY ENHANCING AGONIST BINDING-AFFINITY, Neuron, 15(1), 1995, pp. 229-239
Citation: Jn. Pruitt et al., FREQUENCIES OF CONGO-RED-POSITIVE FIBERS, T-CELL-INVADED FIBERS, AND NECROTIC FIBERS IN SPORADIC INCLUSION-BODY MYOSITIS (IBM), Neurology, 45(4), 1995, pp. 208-208
Citation: Jn. Pruitt et al., NORMAL NUMBER OF CORTICOSPINAL AXONS ARE FOUND WITHIN ONE SEGMENT FROM THORACIC SPINAL-CORD TRANSECTION, Neurology, 43(4), 1993, pp. 382-382