Congenital myasthenic syndromes in 2012. (Q34407051)

2 August 2017

title

Congenital myasthenic syndromes in 2012. (English)

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2 August 2017

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Andrew G Engel

1

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2 August 2017

publication date

1 February 2012

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Current Neurology and Neuroscience Reports

2 August 2017

published in

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2 August 2017

volume

12

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2 August 2017

issue

1

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2 August 2017

page(s)

92-101

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Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia

2 August 2017

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Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations

6 July 2018

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Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia

6 July 2018

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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

6 July 2018

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Myasthenic syndrome caused by plectinopathy

6 July 2018

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Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L

6 July 2018

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Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

6 July 2018

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Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction

6 July 2018

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Centronuclear myopathies: a widening concept

6 July 2018

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Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

6 July 2018

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Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

6 July 2018

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Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

6 July 2018

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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

6 July 2018

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Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis

6 July 2018

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A mammalian homolog of Drosophila tumorous imaginal discs, Tid1, mediates agrin signaling at the neuromuscular junction

6 July 2018

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LRP4 serves as a coreceptor of agrin

6 July 2018

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Lrp4 is a receptor for Agrin and forms a complex with MuSK

6 July 2018

1 reference

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Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients

6 July 2018

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Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

6 July 2018

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

6 July 2018

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Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

6 July 2018

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Dok-7 mutations underlie a neuromuscular junction synaptopathy

6 July 2018

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Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.

6 July 2018

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Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

6 July 2018

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Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

6 July 2018

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The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

6 July 2018

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Recent advances in Cys-loop receptor structure and function

6 July 2018

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MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction

6 July 2018

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C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse

6 July 2018

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Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

6 July 2018

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Myasthenic syndrome caused by mutation of the SCN4A sodium channel

6 July 2018

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Sleuthing molecular targets for neurological diseases at the neuromuscular junction

6 July 2018

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E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

6 July 2018

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Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

6 July 2018

1 reference

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Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209912

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209912

Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209912

Quaternary associations of acetylcholinesterase. II. The polyproline attachment domain of the collagen tail

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209912

Molecular and cellular biology of cholinesterases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209912

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209912

The postsynaptic 43k protein clusters muscle nicotinic acetylcholine receptors in xenopus oocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209912

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

6 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

MUSK, a new target for mutations causing congenital myasthenic syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0234-7

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209912

Two heparin-binding domains are present on the collagenic tail of asymmetric acetylcholinesterase

27 October 2018

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12 December 2020

Endplate destruction due to maternal antibodies in arthrogryposis multiplex congenita

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12 December 2020

Adult-onset centronuclear myopathy: evidence against a neurogenic pathology

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12 December 2020

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

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12 December 2020

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

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12 December 2020

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

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12 December 2020

Evidence for in situ and in vitro association between beta-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receptor clustering at the synapse

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12 December 2020

Human genetics. Affordable 'exomes' fill gaps in a catalog of rare diseases

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12 December 2020

10.1007/S11910-011-0234-7

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

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2 August 2017

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