Prevalence and geographical distribution of UK congenital myasthenic syndrome patients referred to the oxford national specialist commissioning advisory group service

Prevalence and geographical distribution of UK congenital myasthenic syndrome patients referred to the oxford national specialist commissioning advisory group service

Bibliographic Details
Main Authors:	Lashley, D, Burke, G, Palace, J, Beeson, D, Goldsworthy, C, Newsom-Davis, J
Format:	Conference item
Published:	2007

Similar Items

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

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

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

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

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

The congenital myasthenic syndromes.
by: Palace, J, et al.
Published: (2008)

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

Congenital myasthenic syndromes.
by: Beeson, D, et al.
Published: (1997)

Congenital myasthenic syndromes: an update.
by: Finlayson, S, et al.
Published: (2013)

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

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

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

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

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

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
by: Mewasingh, L, et al.
Published: (2006)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
by: Croxen, R, et al.
Published: (2000)

Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
by: Beeson, D, et al.
Published: (2006)

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
by: Webster, R, et al.
Published: (2002)

Synaptic dysfunction in congenital myasthenic syndromes.
by: Beeson, D
Published: (2012)

Congenital myasthenic syndromes: recent advances
by: Beeson, D
Published: (2016)

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

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

DOK7 congenital myasthenic syndrome.
by: Palace, J
Published: (2012)

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

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
by: Croxen, R, et al.
Published: (2002)

Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
by: Webster, R, et al.
Published: (2011)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
by: Webster, R, et al.
Published: (2004)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
by: Brownlow, S, et al.
Published: (2000)

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

"THE EYES HAVE IT": INITIAL GENETIC SCREENING IN SUSPECTED CONGENITAL MYASTHENIA
by: Lashley, D, et al.
Published: (2010)

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

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
by: Beeson, D, et al.
Published: (2003)

Congenital myasthenia - Rapsyn deficiency: How rare?
by: Burke, G, et al.
Published: (2003)

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

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

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

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

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

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

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