73(rd) ENMC International Workshop: congenital myasthenic syndromes. 22-23 October, 1999, Naarden, The Netherlands. (Q52065965)

21 April 2018

title

73(rd) ENMC International Workshop: congenital myasthenic syndromes. 22-23 October, 1999, Naarden, The Netherlands. (English)

1 reference

21 April 2018

0 references

Engel AE

1

1 reference

21 April 2018

publication date

1 April 2001

1 reference

21 April 2018

published in

Neuromuscular Disorders

1 reference

21 April 2018

volume

11

1 reference

21 April 2018

issue

3

1 reference

21 April 2018

page(s)

315-321

1 reference

21 April 2018

Congenital myasthenic syndromes: recent advances

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Synaptic vesicle abnormality in familial infantile myasthenia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Congenital Lambert-Eaton myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

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?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Congenital endplate acetylcholinesterase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Familial early infantile myasthenia gravis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Evidence for Genetic Heterogeneity Supports Clinical Differences in Congenital Myasthenic Syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca(2+) channel mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900189-9

7 January 2021

10.1016/S0960-8966(00)00189-9

Identifiers

DOI

1 reference

21 April 2018

1 reference

21 April 2018