Congenital Myasthenic Syndromes in 2018 (Q89072864)

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31 March 2020

title

Congenital Myasthenic Syndromes in 2018 (English)

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31 March 2020

Andrew G Engel

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31 March 2020

publication date

12 June 2018

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Current Neurology and Neuroscience Reports

31 March 2020

published in

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volume

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issue

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page(s)

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

31 March 2020

cites work

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12 December 2020

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

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12 December 2020

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

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Sleuthing molecular targets for neurological diseases at the neuromuscular junction

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12 December 2020

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

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12 December 2020

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

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12 December 2020

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

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12 December 2020

MUSK, a new target for mutations causing congenital myasthenic syndrome

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12 December 2020

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

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12 December 2020

Recent advances in Cys-loop receptor structure and function

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Dok-7 mutations underlie a neuromuscular junction synaptopathy

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12 December 2020

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

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12 December 2020

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis

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12 December 2020

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

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12 December 2020

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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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

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

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12 December 2020

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

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12 December 2020

Muscle-derived collagen XIII regulates maturation of the skeletal neuromuscular junction.

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12 December 2020

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

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12 December 2020

Myasthenic syndrome caused by plectinopathy

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12 December 2020

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

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12 December 2020

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

1 reference

12 December 2020

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

1 reference

12 December 2020

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

1 reference

12 December 2020

Neurology of inherited glycosylation disorders

1 reference

12 December 2020

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

1 reference

12 December 2020

STIM proteins: dynamic calcium signal transducers

1 reference

12 December 2020

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

1 reference

12 December 2020

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

1 reference

12 December 2020

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity

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12 December 2020

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

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12 December 2020

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

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12 December 2020

DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies

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12 December 2020

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12 December 2020

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

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12 December 2020

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

1 reference

12 December 2020

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

1 reference

12 December 2020

Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

1 reference

12 December 2020

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

1 reference

12 December 2020

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

1 reference

12 December 2020

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

1 reference

12 December 2020

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

1 reference

12 December 2020

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

1 reference

12 December 2020

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

1 reference

12 December 2020

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

1 reference

12 December 2020

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice

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12 December 2020

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

1 reference

12 December 2020

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

1 reference

12 December 2020

Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

1 reference

12 December 2020

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

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12 December 2020

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

1 reference

12 December 2020

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

1 reference

12 December 2020

Fundamental Molecules and Mechanisms for Forming and Maintaining Neuromuscular Synapses.

1 reference

12 December 2020

10.1007/S11910-018-0852-4

Identifiers

DOI

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31 March 2020

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