Animal models of the neuromuscular junction, vitally informative for understanding function and the molecular mechanisms of congenital myasthenic syndromes

Animal models of the neuromuscular junction, vitally informative for understanding function and the molecular mechanisms of congenital myasthenic syndromes

The neuromuscular junction is the point of contact between motor nerve and skeletal muscle, its vital role in muscle function is reliant on the precise location and function of many proteins. Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders of neuromuscular transmission w...

Bibliográfalaš dieđut
Váldodahkki:	Webster, R
Materiálatiipa:	Journal article
Almmustuhtton:	MDPI 2018

Geahča maid

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
Dahkki: Beeson, D, et al.
Almmustuhtton: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
Dahkki: Beeson, D, et al.
Almmustuhtton: (2008)

Congenital myasthenic syndromes and the neuromuscular junction.
Dahkki: Cruz, P, et al.
Almmustuhtton: (2014)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
Dahkki: Beeson, D
Almmustuhtton: (2008)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
Dahkki: Rodríguez Cruz, P, et al.
Almmustuhtton: (2018)

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
Dahkki: Xufeng Liao, et al.
Almmustuhtton: (2023-09-01)

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Dahkki: Cossins, J, et al.
Almmustuhtton: (2012)

Effect of β2-adrenergic receptor agonists on neurotransmission and neuromuscular junction structure in congenital myasthenic syndromes
Dahkki: Vanhaesebrouck, A
Almmustuhtton: (2018)

Congenital myasthenic syndromes: Epidemiology, clinical phenotyping and aids to diagnosis in the neuromuscular clinic
Dahkki: Healy, E, et al.
Almmustuhtton: (2014)

Autoregulation of Acetylcholine Release and Micro-Pharmacodynamic Mechanisms at Neuromuscular Junction: Selective Acetylcholinesterase Inhibitors for Therapy of Myasthenic Syndromes
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Almmustuhtton: (2018-07-01)

The congenital myasthenic syndromes.
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Almmustuhtton: (2008)

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Dahkki: Beeson, D, et al.
Almmustuhtton: (1997)

Congenital Myasthenic Syndromes
Dahkki: J Gordon Millichap
Almmustuhtton: (1994-01-01)

Congenital Myasthenic Syndrome
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Almmustuhtton: (2022-04-01)

Congenital myasthenic syndromes
Dahkki: Josef Finsterer
Almmustuhtton: (2019-02-01)

Congenital myasthenic syndromes: an update.
Dahkki: Finlayson, S, et al.
Almmustuhtton: (2013)

Inheritance of Congenital Myasthenic Syndromes
Dahkki: J Gordon Millichap
Almmustuhtton: (2002-08-01)

Diagnosis of Congenital Myasthenic Syndromes
Dahkki: J Gordon Millichap
Almmustuhtton: (2004-02-01)

Presynaptic Congenital Myasthenic Syndrome
Dahkki: J Gordon Millichap
Almmustuhtton: (2001-08-01)

Calcium channel subtypes contributing to acetylcholine release from normal, 4-aminopyridine-treated and myasthenic syndrome auto-antibodies-affected neuromuscular junctions.
Dahkki: Giovannini, F, et al.
Almmustuhtton: (2002)

Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes
Dahkki: Cheung, JY
Almmustuhtton: (2016)

Therapeutic strategies for congenital myasthenic syndromes
Dahkki: Lee, M, et al.
Almmustuhtton: (2018)

Synaptic dysfunction in congenital myasthenic syndromes.
Dahkki: Beeson, D
Almmustuhtton: (2012)

DOK7 congenital myasthenic syndrome.
Dahkki: Palace, J
Almmustuhtton: (2012)

Congenital myasthenic syndromes: recent advances
Dahkki: Beeson, D
Almmustuhtton: (2016)

Congenital Myasthenic Syndrome with Agrin Mutations
Dahkki: J Gordon Millichap, et al.
Almmustuhtton: (2014-10-01)

COLQ-Mutant Congenital Myasthenic Syndromes
Dahkki: J Gordon Millichap
Almmustuhtton: (2008-03-01)

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
Dahkki: Spillane, J, et al.
Almmustuhtton: (2012)

The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms
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Almmustuhtton: (2019-03-01)

Congenital myasthenic syndromes: Report of 7 Chile
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Congenital myasthenic syndrome caused by mutations in DPAGT.
Dahkki: Klein, A, et al.
Almmustuhtton: (2015)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
Dahkki: Man, S, et al.
Almmustuhtton: (2005)

Congenital Myasthenic Syndrome and AChR Mutation
Dahkki: J Gordon Millichap
Almmustuhtton: (2000-09-01)

DOK7 Mutations in Congenital Myasthenic Syndromes
Dahkki: J Gordon Millichap
Almmustuhtton: (2007-06-01)

Clinical and genetic basis of congenital myasthenic syndromes
Dahkki: Paulo Victor Sgobbi de Souza, et al.

Repouso da junção neuromuscular no tratamento de crises miastênicas e colinérgicas Management of the myasthenic and cholinergic crisis by neuromuscular junction rest
Dahkki: J. Lamartine de Assis, et al.
Almmustuhtton: (1968-06-01)

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
Dahkki: Webster, R, et al.
Almmustuhtton: (2013)

Neuromuscular Active Zone Structure and Function in Healthy and Lambert-Eaton Myasthenic Syndrome States
Dahkki: Scott P. Ginebaugh, et al.
Almmustuhtton: (2022-05-01)

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
Dahkki: Bonifati, D, et al.
Almmustuhtton: (2004)

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
Dahkki: Finlayson, S, et al.
Almmustuhtton: (2013)