Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission (Q36904999)

17 August 2017

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title

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission (English)

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17 August 2017

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vertical transmission

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Hanns Lochmüller

4

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Angela Abicht

series ordinal

3

object named as

Angela Abicht

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17 August 2017

Juliane S Müller

1

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PubMed ID

17686188

17 August 2017

Violeta Mihaylova

series ordinal

2

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17 August 2017

9 August 2007

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Expert Reviews in Molecular Medicine

17 August 2017

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17 August 2017

9

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17 August 2017

22

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17 August 2017

1-20

1 reference

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

17 August 2017

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

Presynaptic congenital myasthenic syndrome due to quantal release deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Molecular architecture of the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Novel congenital myasthenic syndromes associated with defects in quantal release

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Genetic analysis of collagen Q: roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Congenital myasthenic syndromes: progress over the past decade.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Molecular distinction between fetal and adult forms of muscle acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Common founder effect of rapsyn N88K studied using intragenic markers

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Roles of rapsyn and agrin in interaction of postsynaptic proteins with acetylcholine receptors.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

The acetylcholine receptor gamma-to-epsilon switch occurs in individual endplates

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

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/10.1017%2FS1462399407000427

7 January 2021

Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

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/10.1017%2FS1462399407000427

7 January 2021

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Defective neuromuscular synaptogenesis in agrin-deficient mutant mice

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Agrin acts via a MuSK receptor complex

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

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/10.1017%2FS1462399407000427

7 January 2021

Dok-7 mutations underlie a neuromuscular junction synaptopathy

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Recent advances in Cys-loop receptor structure and function

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Signals mediating ion channel clustering at the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Maturation of the acetylcholine receptor in skeletal muscle: regulation of the AChR gamma-to-epsilon switch

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Mutation history of the roma/gypsies

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Seronegative myasthenia gravis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Identification of pathogenic mutations in the human rapsyn gene

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Synaptic Congenital Myasthenic Syndrome in Three Patients due to a Novel Missense Mutation (T441A) of theCOLQGene

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Neuromuscular junction autoimmune disease: muscle specific kinase antibodies and treatments for myasthenia gravis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Current understanding of congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

MUSK, a new target for mutations causing congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Sleuthing molecular targets for neurological diseases at the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Antibodies in myasthenia gravis and related disorders

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Clinical features of the DOK7 neuromuscular junction synaptopathy

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Calcium-mediated myopathy at neuromuscular junctions of normal and dystrophic muscle

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

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/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Interactions of the rapsyn RING-H2 domain with dystroglycan

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

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/10.1017%2FS1462399407000427

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/10.1017%2FS1462399407000427

7 January 2021

Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Formation of the neuromuscular junction. Agrin and its unusual receptors

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Acetylcholine receptor expression in human extraocular muscles and their susceptibility to myasthenia gravis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Structure and functions of acetylcholinesterase and butyrylcholinesterase

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Unusual features in a boy with the rapsyn N88K mutation

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Genes at the junction--candidates for congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

A four-to-one association between peptide motifs: four C-terminal domains from cholinesterase assemble with one proline-rich attachment domain (PRAD) in the secretory pathway

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Challenging the neurocentric view of neuromuscular synapse formation

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Deletion of N-terminal rapsyn domains disrupts clustering and has dominant negative effects on clustering of full-length rapsyn.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

Congenital Lambert-Eaton myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000427

7 January 2021

10.1017/S1462399407000427

Identifiers

DOI

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Fatcat ID

release_vsy32ijm5fewfjvyixoayloknu

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Fatcat

https://api.fatcat.wiki/v0/release/vsy32ijm5fewfjvyixoayloknu

24 November 2022

mapped directly with Wikidata item

PubMed ID

17686188

1 reference

PubMed ID

17686188