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Results: 1-19 |
Results: 19
QUINIDINE NORMALIZES THE OPEN DURATION OF SLOW-CHANNEL MUTANTS OF THEACETYLCHOLINE-RECEPTOR
Authors: FUKUDOME T OHNO K BRENGMAN JM ENGEL AG
Citation: T. Fukudome et al., QUINIDINE NORMALIZES THE OPEN DURATION OF SLOW-CHANNEL MUTANTS OF THEACETYLCHOLINE-RECEPTOR, NeuroReport, 9(8), 1998, pp. 1907-1911
MODE SWITCHING KINETICS PRODUCED BY A NATURALLY-OCCURRING MUTATION INTHE CYTOPLASMIC LOOP OF THE HUMAN ACETYLCHOLINE-RECEPTOR EPSILON-SUBUNIT
Authors: MILONE M WANG HL OHNO K PRINCE R FUKUDOME T SHEN XM BRENGMAN JM GRIGGS RC SINE SM ENGEL AG
Citation: M. Milone et al., MODE SWITCHING KINETICS PRODUCED BY A NATURALLY-OCCURRING MUTATION INTHE CYTOPLASMIC LOOP OF THE HUMAN ACETYLCHOLINE-RECEPTOR EPSILON-SUBUNIT, Neuron, 20(3), 1998, pp. 575-588
MYASTHENIC SYNDROMES IN TURKISH KINSHIPS DUE TO MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR
Authors: OHNO K ANLAR B OZDIRIM E BRENGMAN JM DEBLEECKER JL ENGEL AG
Citation: K. Ohno et al., MYASTHENIC SYNDROMES IN TURKISH KINSHIPS DUE TO MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR, Annals of neurology, 44(2), 1998, pp. 234-241
CONGENITAL MYASTHENIC SYNDROMES (CMS) DUE TO NULL MUTATIONS IN ACETYLCHOLINE-RECEPTOR (ACHR) EPSILON-SUBUNIT GENE IN TURKISH KINSHIPS
Authors: ANIAR B OHNO K OZDIRIM E BRENGMAN JM DEBLEECKER JL ENGEL AG
Citation: B. Aniar et al., CONGENITAL MYASTHENIC SYNDROMES (CMS) DUE TO NULL MUTATIONS IN ACETYLCHOLINE-RECEPTOR (ACHR) EPSILON-SUBUNIT GENE IN TURKISH KINSHIPS, Neurology, 50(4), 1998, pp. 67001-67001
SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME (SCCMS) CAUSED BY A NOVELMUTATION IN THE ACETYLCHOLINE-RECEPTOR (ACHR) EPSILON-SUBUNIT
Authors: OHNO K MILONE M BRENGMAN JM LOMONACO M EVOLI A TONALI PA ENGEL AG
Citation: K. Ohno et al., SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME (SCCMS) CAUSED BY A NOVELMUTATION IN THE ACETYLCHOLINE-RECEPTOR (ACHR) EPSILON-SUBUNIT, Neurology, 50(4), 1998, pp. 67002-67002
LOW-AFFINITY FAST-CHANNEL CONGENITAL MYASTHENIC SYNDROME (CMS) CAUSEDBY NEW MISSENSE MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR (ACHR) ALPHA-SUBUNIT
Authors: MILONE M OHNO K BRENGMAN JM BATOCCHI AP TONALI PA ENGEL AG
Citation: M. Milone et al., LOW-AFFINITY FAST-CHANNEL CONGENITAL MYASTHENIC SYNDROME (CMS) CAUSEDBY NEW MISSENSE MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR (ACHR) ALPHA-SUBUNIT, Neurology, 50(4), 1998, pp. 67004-67004
CONGENITAL MYASTHENIC SYNDROMES DUE TO HETEROALLELIC NONSENSE MISSENSE MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR EPSILON-SUBUNIT GENE - IDENTIFICATION AND FUNCTIONAL-CHARACTERIZATION OF 6 NEW MUTATIONS/
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
CONGENITAL MYASTHENIC SYNDROMES (CMS) DUE TO HETEROALLELIC NONSENSE MISSENSE MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR (ACHR) EPSILON-SUBUNITGENE - REPORT OF 5 NEW MUTATIONS/
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
CONGENITAL MYASTHENIC SYNDROME DUE TO A NULL MUTATION AND AN INFRAME DUPLICATION OF THE ACETYLCHOLINE-RECEPTOR (ACHR) EPSILON-SUBUNIT GENE
Authors: MILONE M OHNO K FUKUDOME T SHEN XM BRENGMAN JM GRIGGS RC ENGEL AG
Citation: M. Milone et al., CONGENITAL MYASTHENIC SYNDROME DUE TO A NULL MUTATION AND AN INFRAME DUPLICATION OF THE ACETYLCHOLINE-RECEPTOR (ACHR) EPSILON-SUBUNIT GENE, American journal of human genetics, 61(4), 1997, pp. 1994-1994
FRAMESHIFT AND SPLICE-SITE MUTATIONS IN ACETYLCHOLINE-RECEPTOR (ACHR)EPSILON-SUBUNIT GENE IN 5 TURKISH KINSHIPS WITH CONGENITAL MYASTHENICSYNDROMES (CMS)
Authors: OHNO K ANLAR B OZDIRIM E BRENGMAN JM DEBLEECKER JL ENGEL AG
Citation: K. Ohno et al., FRAMESHIFT AND SPLICE-SITE MUTATIONS IN ACETYLCHOLINE-RECEPTOR (ACHR)EPSILON-SUBUNIT GENE IN 5 TURKISH KINSHIPS WITH CONGENITAL MYASTHENICSYNDROMES (CMS), American journal of human genetics, 61(4), 1997, pp. 2002-2002
NEW MUTATIONS IN ACETYLCHOLINE-RECEPTOR SUBUNIT GENES REVEAL HETEROGENEITY IN THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
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
CONGENITAL MYASTHENIC SYNDROME CAUSED BY DECREASED AGONIST BINDING-AFFINITY DUE TO A MUTATION IN THE ACETYLCHOLINE-RECEPTOR EPSILON-SUBUNIT
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
IDENTIFICATION OF NEUROMUSCULAR-JUNCTION ACETYLCHOLINE-RECEPTOR MUTATIONS IN THE SLOW CHANNEL CONGENITAL MYASTHENIC SYNDROME
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
ANALYSIS OF CYTOKINE EXPRESSION IN MUSCLE IN INFLAMMATORY MYOPATHIES,DUCHENNE DYSTROPHY, AND NON-WEAK CONTROLS
Authors: LUNDBERG I BRENGMAN JM ENGEL AG
Citation: I. Lundberg et al., ANALYSIS OF CYTOKINE EXPRESSION IN MUSCLE IN INFLAMMATORY MYOPATHIES,DUCHENNE DYSTROPHY, AND NON-WEAK CONTROLS, Journal of neuroimmunology, 63(1), 1995, pp. 9-16
A CONGENITAL MYASTHENIC SYNDROME (CMS) WITH SEVERE ACETYLCHOLINE-RECEPTOR (ACHR) DEFICIENCY CAUSED BY HETEROALLELIC FRAME-SHIFTING MUTATIONS IN THE EPSILON-SUBUNIT
Authors: OHNO K ENGEL AG MILONE M BRENGMAN JM SIEB J IANNACCONE S
Citation: K. Ohno et al., A CONGENITAL MYASTHENIC SYNDROME (CMS) WITH SEVERE ACETYLCHOLINE-RECEPTOR (ACHR) DEFICIENCY CAUSED BY HETEROALLELIC FRAME-SHIFTING MUTATIONS IN THE EPSILON-SUBUNIT, Neurology, 45(4), 1995, pp. 283-283
CONGENITAL MYASTHENIC SYNDROME CAUSED BY PROLONGED ACETYLCHOLINE-RECEPTOR CHANNEL OPENINGS DUE TO A MUTATION IN THE M2 DOMAIN OF THE EPSILON-SUBUNIT
Authors: OHNO K HUTCHINSON DO MILONE M BRENGMAN JM BOUZAT C SINE SM ENGEL AG
Citation: K. Ohno et al., CONGENITAL MYASTHENIC SYNDROME CAUSED BY PROLONGED ACETYLCHOLINE-RECEPTOR CHANNEL OPENINGS DUE TO A MUTATION IN THE M2 DOMAIN OF THE EPSILON-SUBUNIT, Proceedings of the National Academy of Sciences of the United Statesof America, 92(3), 1995, pp. 758-762
A CONGENITAL MYASTHENIC SYNDROME (CMS) WITH A NONSENSE MUTATION IN THE EPSILON(E)-SUBUNIT OF THE ACETYLCHOLINE-RECEPTOR (ACHR)
Authors: OHNO K ENGEL AG BRENGMAN JM HUTCHINSON DO GRIGGS RC
Citation: K. Ohno et al., A CONGENITAL MYASTHENIC SYNDROME (CMS) WITH A NONSENSE MUTATION IN THE EPSILON(E)-SUBUNIT OF THE ACETYLCHOLINE-RECEPTOR (ACHR), Neurology, 44(4), 1994, pp. 10000188-10000188
DYSTROPHIN (D) DEFICIENCY EXAMINED BY COMBINED PCR, IMMUNOBLOT (IB), AND IMMUNOSTAIN (IS) ANALYSIS
Authors: YAMAMOTO M BRENGMAN JM MCCORMICK DJ NISHINO H ENGEL AG
Citation: M. Yamamoto et al., DYSTROPHIN (D) DEFICIENCY EXAMINED BY COMBINED PCR, IMMUNOBLOT (IB), AND IMMUNOSTAIN (IS) ANALYSIS, Neurology, 43(4), 1993, pp. 293-294
PARANEOPLASTIC CEREBELLAR DEGENERATION WITH A CIRCULATING ANTIBODY AGAINST NEURONS AND NONNEURONAL CELLS
Authors: TOMIMOTO H BRENGMAN JM YANAGIHARA T
Citation: H. Tomimoto et al., PARANEOPLASTIC CEREBELLAR DEGENERATION WITH A CIRCULATING ANTIBODY AGAINST NEURONS AND NONNEURONAL CELLS, Acta Neuropathologica, 86(2), 1993, pp. 206-211
Risultati: 1-19 |