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

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Lashley, D, Burke, G, Palace, J, Beeson, D, Goldsworthy, C, Newsom-Davis, J
Formáid:	Conference item
Foilsithe / Cruthaithe:	2007

Míreanna comhchosúla

A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
de réir: Burke, G, et al.
Foilsithe / Cruthaithe: (2006)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
de réir: Lashley, D, et al.
Foilsithe / Cruthaithe: (2009)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
de réir: Beeson, D, et al.
Foilsithe / Cruthaithe: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
de réir: Beeson, D, et al.
Foilsithe / Cruthaithe: (2008)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
de réir: Man, S, et al.
Foilsithe / Cruthaithe: (2005)

The congenital myasthenic syndromes.
de réir: Palace, J, et al.
Foilsithe / Cruthaithe: (2008)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
de réir: Lashley, D, et al.
Foilsithe / Cruthaithe: (2010)

Congenital myasthenic syndromes.
de réir: Beeson, D, et al.
Foilsithe / Cruthaithe: (1997)

Congenital myasthenic syndromes: an update.
de réir: Finlayson, S, et al.
Foilsithe / Cruthaithe: (2013)

Congenital myasthenic syndromes and the neuromuscular junction.
de réir: Cruz, P, et al.
Foilsithe / Cruthaithe: (2014)

Therapeutic strategies for congenital myasthenic syndromes
de réir: Lee, M, et al.
Foilsithe / Cruthaithe: (2018)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
de réir: Vincent, A, et al.
Foilsithe / Cruthaithe: (1993)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
de réir: Vincent, A, et al.
Foilsithe / Cruthaithe: (1993)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
de réir: Rodríguez Cruz, P, et al.
Foilsithe / Cruthaithe: (2018)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
de réir: Mewasingh, L, et al.
Foilsithe / Cruthaithe: (2006)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
de réir: Croxen, R, et al.
Foilsithe / Cruthaithe: (2000)

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

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
de réir: Webster, R, et al.
Foilsithe / Cruthaithe: (2002)

Synaptic dysfunction in congenital myasthenic syndromes.
de réir: Beeson, D
Foilsithe / Cruthaithe: (2012)

Congenital myasthenic syndromes: recent advances
de réir: Beeson, D
Foilsithe / Cruthaithe: (2016)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
de réir: Finlayson, S, et al.
Foilsithe / Cruthaithe: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
de réir: Finlayson, S, et al.
Foilsithe / Cruthaithe: (2013)

DOK7 congenital myasthenic syndrome.
de réir: Palace, J
Foilsithe / Cruthaithe: (2012)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
de réir: Beeson, D
Foilsithe / Cruthaithe: (2008)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
de réir: Croxen, R, et al.
Foilsithe / Cruthaithe: (2002)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
de réir: Webster, R, et al.
Foilsithe / Cruthaithe: (2004)

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

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
de réir: Brownlow, S, et al.
Foilsithe / Cruthaithe: (2000)

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
de réir: Finlayson, S, et al.
Foilsithe / Cruthaithe: (2013)

"THE EYES HAVE IT": INITIAL GENETIC SCREENING IN SUSPECTED CONGENITAL MYASTHENIA
de réir: Lashley, D, et al.
Foilsithe / Cruthaithe: (2010)

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
de réir: Kinali, M, et al.
Foilsithe / Cruthaithe: (2008)

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
de réir: Beeson, D, et al.
Foilsithe / Cruthaithe: (2003)

Congenital myasthenia - Rapsyn deficiency: How rare?
de réir: Burke, G, et al.
Foilsithe / Cruthaithe: (2003)

Muscle magnetic resonance imaging in congenital myasthenic syndromes
de réir: Finlayson, S, et al.
Foilsithe / Cruthaithe: (2016)

THE CLINICAL PHENOTYPIC SPECTRUM OF GFPT1 ASSOCIATED CONGENITAL MYASTHENIC SYNDROME
de réir: Chaouch, A, et al.
Foilsithe / Cruthaithe: (2012)

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
de réir: Belaya, K, et al.
Foilsithe / Cruthaithe: (2012)

Congenital myasthenic syndromes: Epidemiology, clinical phenotyping and aids to diagnosis in the neuromuscular clinic
de réir: Healy, E, et al.
Foilsithe / Cruthaithe: (2014)

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
de réir: Spillane, J, et al.
Foilsithe / Cruthaithe: (2012)

Congenital myasthenic syndrome caused by mutations in DPAGT.
de réir: Klein, A, et al.
Foilsithe / Cruthaithe: (2015)

Congenital myasthenic syndromes: Report of 7 Chile
de réir: Kleinsteuber, K, et al.
Foilsithe / Cruthaithe: (2003)