The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes

Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired neuromuscular transmission. This review provides an overview on CMS and highlights recent advances in the field, including novel CMS causative genes and improved therapeutic strategies. CMS due to mutations in SLC5...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Rodríguez Cruz, P, Palace, J, Beeson, D
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	MDPI 2018

Antzeko izenburuak

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

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

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

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

The congenital myasthenic syndromes.
nork: Palace, J, et al.
Argitaratua: (2008)

Congenital myasthenic syndromes.
nork: Beeson, D, et al.
Argitaratua: (1997)

Congenital myasthenic syndromes: an update.
nork: Finlayson, S, et al.
Argitaratua: (2013)

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

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

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

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

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
nork: Lashley, D, et al.
Argitaratua: (2009)

Inherited disorders of the neuromuscular junction: an update.
nork: Rodríguez Cruz, P, et al.
Argitaratua: (2014)

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

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
nork: Lashley, D, et al.
Argitaratua: (2010)

Synaptic dysfunction in congenital myasthenic syndromes.
nork: Beeson, D
Argitaratua: (2012)

Congenital myasthenic syndromes: recent advances
nork: Beeson, D
Argitaratua: (2016)

A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
nork: Burke, G, et al.
Argitaratua: (2006)

DOK7 congenital myasthenic syndrome.
nork: Palace, J
Argitaratua: (2012)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
nork: Vincent, A, et al.
Argitaratua: (1993)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
nork: Vincent, A, et al.
Argitaratua: (1993)

Muscle magnetic resonance imaging in congenital myasthenic syndromes
nork: Finlayson, S, et al.
Argitaratua: (2016)

Animal models of the neuromuscular junction, vitally informative for understanding function and the molecular mechanisms of congenital myasthenic syndromes
nork: Webster, R
Argitaratua: (2018)

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

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

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
nork: Finlayson, S, et al.
Argitaratua: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
nork: Finlayson, S, et al.
Argitaratua: (2013)

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
nork: Kinali, M, et al.
Argitaratua: (2008)

Congenital myasthenic syndrome caused by mutations in DPAGT.
nork: Klein, A, et al.
Argitaratua: (2015)

THE CLINICAL PHENOTYPIC SPECTRUM OF GFPT1 ASSOCIATED CONGENITAL MYASTHENIC SYNDROME
nork: Chaouch, A, et al.
Argitaratua: (2012)

Congenital myasthenic syndromes: Report of 7 Chile
nork: Kleinsteuber, K, et al.
Argitaratua: (2003)

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

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
nork: Belaya, K, et al.
Argitaratua: (2012)

Congenital Myasthenic Syndromes
nork: J Gordon Millichap
Argitaratua: (1994-01-01)

Therapy of myasthenic syndrome
nork: Palace, J
Argitaratua: (2012)

Congenital myasthenic syndromes
nork: Josef Finsterer
Argitaratua: (2019-02-01)

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure
nork: Rodríguez Cruz, PM, et al.
Argitaratua: (2019)

Congenital Myasthenic Syndrome
nork: WANG Wenqing, et al.
Argitaratua: (2022-04-01)

New diagnosis in Chilean population: congenital myasthenic syndromes
nork: Kleinsteuber, K, et al.
Argitaratua: (2005)

Dok-7/MuSK signaling and a congenital myasthenic syndrome.
nork: Yamanashi, Y, et al.
Argitaratua: (2008)