Congenital acetylcholine receptor deficiency with concurrent absence of acetylcholine esterase

被引：0
|
作者：
Cupler, EJ
Hessler, R
Dabbagh, O
Bohlegha, S
Stigsby, B
机构：
来源：
NEUROLOGY | 1998年 / 50卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P01017
引用
收藏
页码：A15 / A15
页数：1
相关论文
共 50 条
  • [31] Salbutamol monotherapy in acetylcholine receptor deficiency-related congenital myasthenic syndrome due to CHRNE mutation
    Arpan Dutta
    Arkaprava Chakraborty
    Shambaditya Das
    Souvik Dubey
    Alak Pandit
    Journal of Neurology, 2022, 269 : 3923 - 3925
  • [32] ONTOGENIC CHANGES IN DOPAMINE, ACETYLCHOLINE AND ACETYLCHOLINE ESTERASE IN BRAINS OF NORMAL AND THYROIDECTOMIZED RATS
    GHOSH, PK
    MERALI, Z
    HRDINA, PD
    SINGHAL, RL
    PHARMACOLOGIST, 1973, 15 (02): : 258 - 258
  • [33] Acetylcholine and acetylcholine receptors in taste receptor cells
    Ogura, T
    Lin, WH
    CHEMICAL SENSES, 2005, 30 : I41 - I41
  • [34] Molecular basis of congenital myasthenic syndromes: Mutations in the acetylcholine receptor
    Engel, AG
    Ohno, K
    Wang, HL
    Milone, M
    Sine, SM
    NEUROSCIENTIST, 1998, 4 (03): : 185 - 194
  • [35] KINETICS OF ACETYLCHOLINE BINDING TO RECEPTOR AND ESTERASE IN RELATION TO NEURAL INFORMATION-TRANSMISSION
    NEUMANN, E
    HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1978, 359 (03): : 300 - 301
  • [36] Mutation of the acetylcholine receptor ε-subunit promoter in congenital myasthenic syndrome
    Nichols, P
    Croxen, R
    Vincent, A
    Rutter, R
    Hutchinson, M
    Newsom-Davis, J
    Beeson, D
    ANNALS OF NEUROLOGY, 1999, 45 (04) : 439 - 443
  • [37] KINETICS OF HYDROLYSIS OF PHENYL ANALOG OF ACETYLCHOLINE UNDER ACTION OF HORSE SERUM CHOLINE ESTERASE AND BOVINE ERYTHROCYTE ACETYLCHOLINE ESTERASE
    BRESTKIN, AP
    BRIK, IL
    TEPLOV, NE
    BIOCHEMISTRY-MOSCOW, 1968, 33 (5P2) : 863 - &
  • [38] Novel functional ε-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome
    Croxen, R
    Newland, C
    Betty, M
    Vincent, A
    Newsom-Davis, J
    Beeson, D
    ANNALS OF NEUROLOGY, 1999, 46 (04) : 639 - 647
  • [39] A single nucleotide deletion in the ε subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency
    Croxen, R
    Beeson, D
    Newland, C
    Betty, M
    Vincent, A
    Newsom-Davis, J
    MYASTHENIA GRAVIS AND RELATED DISEASES: DISORDERS OF THE NEUROMUSCULAR JUNCTION, 1998, 841 : 195 - 198
  • [40] ACETYLCHOLINE-RECEPTOR ANTIBODIES IN ABSENCE OF NEONATAL MYASTHENIA-GRAVIS
    GUTMANN, L
    SEYBOLD, ME
    ARCHIVES OF NEUROLOGY, 1980, 37 (11) : 738 - 738
12345