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Annals of the New York Academy of Sciences

Volumn 841, Issue , 1998, Pages 195-198

A single nucleotide deletion in the ε subunit of the acetylcholine receptor (AChR) in five congenital myasthenie syndrome patients with AChR deficiency

(6) Croxen, Rebecca a Beeson, David a Newland, Claire a Betty, Maria a Vincent, Angela a Newsom Davis, John a

a UNIVERSITY OF OXFORD (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; MICROSATELLITE DNA;

CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; DELETION MUTANT; EXON; GENE MUTATION; HUMAN; HUMAN CELL; MUSCLE WEAKNESS; MYASTHENIA; NEUROMUSCULAR TRANSMISSION; PTOSIS; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031926722 PISSN: 00778923 EISSN: None Source Type: Book Series
DOI: 10.1111/j.1749-6632.1998.tb10927.x Document Type: Article

Times cited : (13)

References (5)

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- Genes at the junction - Candidates for congenital myasthenic syndromes
- VINCENT, A., C. NEWLAND, R. CROXEN & D. BEESON. 1997. Genes at the junction - candidates for congenital myasthenic syndromes. Trends Neurosci. 20: 15-22.
- (1997) Trends Neurosci. , vol.20 , pp. 15-22
- Vincent, A.¹ Newland, C.² Croxen, R.³ Beeson, D.⁴

2
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- New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
- ENGEL, A. G., K. OHNO, M. MILONE, H-L. WANG, S. NAKANO, C. BOUZAT, J. N. PRUITT II, D. O. HUTCHINSON, J. M. BRENGMAN, N. BREN, J. P. SIEB & S. M. SINE. 1996. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet. 5: 1217-1227.
- (1996) Hum. Mol. Genet. , vol.5 , pp. 1217-1227
- Engel, A.G.¹ Ohno, K.² Milone, M.³ Wang, H.-L.⁴ Nakano, S.⁵ Bouzat, C.⁶ Pruitt II, J.N.⁷ Hutchinson, D.O.⁸ Brengman, J.M.⁹ Bren, N.¹⁰ Sieb, J.P.¹¹ Sine, S.M.¹²

3
- 0030987817
- Mutations in different functional domains of the human muscle acetylcholine receptor α subunit in patients with the slow-channel myasthenic syndrome
- CROXEN, R., C. NEWLAND, D. BEESON, H. OOSTERHUIS, G. CHAUPLANNAZ, A. VINCENT & J. NEWSOM-DAVIS. 1997. Mutations in different functional domains of the human muscle acetylcholine receptor α subunit in patients with the slow-channel myasthenic syndrome. Hum. Mol. Genet. 6: 767-774.
- (1997) Hum. Mol. Genet. , vol.6 , pp. 767-774
- Croxen, R.¹ Newland, C.² Beeson, D.³ Oosterhuis, H.⁴ Chauplannaz, G.⁵ Vincent, A.⁶ Newsom-Davis, J.⁷

4
- 0029807971
- End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
- ENGEL, A. G., K. OHNO, C. BOUZAT, S. M. SINE & R. C. GRIGGS. 1996. End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit. Ann. Neurol. 40: 810-817.
- (1996) Ann. Neurol. , vol.40 , pp. 810-817
- Engel, A.G.¹ Ohno, K.² Bouzat, C.³ Sine, S.M.⁴ Griggs, R.C.⁵

5
- 8244225989
- Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: Identification and functional characterization of six new mutations
- OHNO, K., P. A. QUIRAM, M. MILONE, H-L. WANG, M. C. HARPER, J. N. PRUITT II, J. M. BRENGMAN, L. PAO, K. H. FISCHBECK, T. O. CRAWFORD, S. M. SINE & A. G. ENGEL. 1997. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: identification and functional characterization of six new mutations. Hum. Mol. Genet. 6: 753-766.
- (1997) Hum. Mol. Genet. , vol.6 , pp. 753-766
- Ohno, K.¹ Quiram, P.A.² Milone, M.³ Wang, H.-L.⁴ Harper, M.C.⁵ Pruitt II, J.N.⁶ Brengman, J.M.⁷ Pao, L.⁸ Fischbeck, K.H.⁹ Crawford, T.O.¹⁰ Sine, S.M.¹¹ Engel, A.G.¹²

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