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...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy:	Rodríguez Cruz, P, Palace, J, Beeson, D
Format:	Journal article
Język:	English
Wydane:	MDPI 2018

Podobne zapisy

Congenital myasthenic syndromes and the neuromuscular junction.
od: Cruz, P, i wsp.
Wydane: (2014)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
od: Beeson, D, i wsp.
Wydane: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
od: Beeson, D, i wsp.
Wydane: (2008)

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

The congenital myasthenic syndromes.
od: Palace, J, i wsp.
Wydane: (2008)

Congenital myasthenic syndromes.
od: Beeson, D, i wsp.
Wydane: (1997)

Congenital myasthenic syndromes: an update.
od: Finlayson, S, i wsp.
Wydane: (2013)

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
od: Xufeng Liao, i wsp.
Wydane: (2023-09-01)

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
od: Cossins, J, i wsp.
Wydane: (2012)

Therapeutic strategies for congenital myasthenic syndromes
od: Lee, M, i wsp.
Wydane: (2018)

Congenital myasthenic syndromes: Epidemiology, clinical phenotyping and aids to diagnosis in the neuromuscular clinic
od: Healy, E, i wsp.
Wydane: (2014)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
od: Lashley, D, i wsp.
Wydane: (2009)

Inherited disorders of the neuromuscular junction: an update.
od: Rodríguez Cruz, P, i wsp.
Wydane: (2014)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
od: Man, S, i wsp.
Wydane: (2005)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
od: Lashley, D, i wsp.
Wydane: (2010)

Synaptic dysfunction in congenital myasthenic syndromes.
od: Beeson, D
Wydane: (2012)

Congenital myasthenic syndromes: recent advances
od: Beeson, D
Wydane: (2016)

A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
od: Burke, G, i wsp.
Wydane: (2006)

DOK7 congenital myasthenic syndrome.
od: Palace, J
Wydane: (2012)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
od: Vincent, A, i wsp.
Wydane: (1993)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
od: Vincent, A, i wsp.
Wydane: (1993)

Muscle magnetic resonance imaging in congenital myasthenic syndromes
od: Finlayson, S, i wsp.
Wydane: (2016)

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

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

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
od: Finlayson, S, i wsp.
Wydane: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
od: Finlayson, S, i wsp.
Wydane: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
od: Finlayson, S, i wsp.
Wydane: (2013)

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
od: Kinali, M, i wsp.
Wydane: (2008)

Congenital myasthenic syndrome caused by mutations in DPAGT.
od: Klein, A, i wsp.
Wydane: (2015)

THE CLINICAL PHENOTYPIC SPECTRUM OF GFPT1 ASSOCIATED CONGENITAL MYASTHENIC SYNDROME
od: Chaouch, A, i wsp.
Wydane: (2012)

Congenital myasthenic syndromes: Report of 7 Chile
od: Kleinsteuber, K, i wsp.
Wydane: (2003)

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
od: Spillane, J, i wsp.
Wydane: (2012)

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
od: Belaya, K, i wsp.
Wydane: (2012)

Congenital Myasthenic Syndromes
od: J Gordon Millichap
Wydane: (1994-01-01)

Therapy of myasthenic syndrome
od: Palace, J
Wydane: (2012)

Congenital myasthenic syndromes
od: Josef Finsterer
Wydane: (2019-02-01)

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure
od: Rodríguez Cruz, PM, i wsp.
Wydane: (2019)

Congenital Myasthenic Syndrome
od: WANG Wenqing, i wsp.
Wydane: (2022-04-01)

New diagnosis in Chilean population: congenital myasthenic syndromes
od: Kleinsteuber, K, i wsp.
Wydane: (2005)

Dok-7/MuSK signaling and a congenital myasthenic syndrome.
od: Yamanashi, Y, i wsp.
Wydane: (2008)