J M Brengman

Author PubWeight™ 25.42‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron 1996 2.27
2 Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A 1995 1.92
3 Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A 2001 1.90
4 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1996 1.60
5 Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 1997 1.45
6 Analysis of cytokine expression in muscle in inflammatory myopathies, Duchenne dystrophy, and non-weak controls. J Neuroimmunol 1995 1.42
7 Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol 2000 1.18
8 Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron 1998 1.17
9 Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? Am J Hum Genet 1999 1.08
10 The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ann Neurol 2000 1.07
11 Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest 1999 0.99
12 Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol 1998 0.98
13 Immunohistochemical investigation of ischemic and postischemic damage after bilateral carotid occlusion in gerbils. Stroke 1988 0.95
14 Immunohistochemical investigation of cerebral ischemia during recirculation. J Neurosurg 1985 0.93
15 Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Neuroreport 1998 0.92
16 Differential vulnerability of microtubule components in cerebral ischemia. Acta Neuropathol 1990 0.89
17 Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology 2002 0.87
18 AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. Ann N Y Acad Sci 1998 0.84
19 The spectrum of congenital end-plate acetylcholinesterase deficiency. Ann N Y Acad Sci 1993 0.83
20 Paraneoplastic cerebellar degeneration with a circulating antibody against neurons and non-neuronal cells. Acta Neuropathol 1993 0.79
21 Prediction of stroke before and after unilateral occlusion of the common carotid artery in gerbils. Stroke 1988 0.78
22 Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes. Ann N Y Acad Sci 1998 0.76