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

Bibliográfalaš dieđut
Váldodahkkit:	Lashley, D, Burke, G, Palace, J, Beeson, D, Goldsworthy, C, Newsom-Davis, J
Materiálatiipa:	Conference item
Almmustuhtton:	2007

Geahča maid

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

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

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)

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

The congenital myasthenic syndromes.
Dahkki: Palace, J, et al.
Almmustuhtton: (2008)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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