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

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Lashley, D, Burke, G, Palace, J, Beeson, D, Goldsworthy, C, Newsom-Davis, J
التنسيق:	Conference item
منشور في:	2007

مواد مشابهة

A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
حسب: Burke, G, وآخرون
منشور في: (2006)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
حسب: Lashley, D, وآخرون
منشور في: (2009)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
حسب: Beeson, D, وآخرون
منشور في: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
حسب: Beeson, D, وآخرون
منشور في: (2008)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
حسب: Man, S, وآخرون
منشور في: (2005)

The congenital myasthenic syndromes.
حسب: Palace, J, وآخرون
منشور في: (2008)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
حسب: Lashley, D, وآخرون
منشور في: (2010)

Congenital myasthenic syndromes.
حسب: Beeson, D, وآخرون
منشور في: (1997)

Congenital myasthenic syndromes: an update.
حسب: Finlayson, S, وآخرون
منشور في: (2013)

Congenital myasthenic syndromes and the neuromuscular junction.
حسب: Cruz, P, وآخرون
منشور في: (2014)

Therapeutic strategies for congenital myasthenic syndromes
حسب: Lee, M, وآخرون
منشور في: (2018)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
حسب: Vincent, A, وآخرون
منشور في: (1993)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
حسب: Vincent, A, وآخرون
منشور في: (1993)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
حسب: Rodríguez Cruz, P, وآخرون
منشور في: (2018)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
حسب: Mewasingh, L, وآخرون
منشور في: (2006)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
حسب: Croxen, R, وآخرون
منشور في: (2000)

Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
حسب: Beeson, D, وآخرون
منشور في: (2006)

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
حسب: Webster, R, وآخرون
منشور في: (2002)

Synaptic dysfunction in congenital myasthenic syndromes.
حسب: Beeson, D
منشور في: (2012)

Congenital myasthenic syndromes: recent advances
حسب: Beeson, D
منشور في: (2016)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
حسب: Finlayson, S, وآخرون
منشور في: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
حسب: Finlayson, S, وآخرون
منشور في: (2013)

DOK7 congenital myasthenic syndrome.
حسب: Palace, J
منشور في: (2012)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
حسب: Beeson, D
منشور في: (2008)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
حسب: Croxen, R, وآخرون
منشور في: (2002)

Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
حسب: Webster, R, وآخرون
منشور في: (2011)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
حسب: Webster, R, وآخرون
منشور في: (2004)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
حسب: Brownlow, S, وآخرون
منشور في: (2000)

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
حسب: Finlayson, S, وآخرون
منشور في: (2013)

"THE EYES HAVE IT": INITIAL GENETIC SCREENING IN SUSPECTED CONGENITAL MYASTHENIA
حسب: Lashley, D, وآخرون
منشور في: (2010)

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
حسب: Kinali, M, وآخرون
منشور في: (2008)

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
حسب: Beeson, D, وآخرون
منشور في: (2003)

Congenital myasthenia - Rapsyn deficiency: How rare?
حسب: Burke, G, وآخرون
منشور في: (2003)

Muscle magnetic resonance imaging in congenital myasthenic syndromes
حسب: Finlayson, S, وآخرون
منشور في: (2016)

THE CLINICAL PHENOTYPIC SPECTRUM OF GFPT1 ASSOCIATED CONGENITAL MYASTHENIC SYNDROME
حسب: Chaouch, A, وآخرون
منشور في: (2012)

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
حسب: Belaya, K, وآخرون
منشور في: (2012)

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
حسب: Spillane, J, وآخرون
منشور في: (2012)

Congenital myasthenic syndromes: Epidemiology, clinical phenotyping and aids to diagnosis in the neuromuscular clinic
حسب: Healy, E, وآخرون
منشور في: (2014)

Congenital myasthenic syndrome caused by mutations in DPAGT.
حسب: Klein, A, وآخرون
منشور في: (2015)

Congenital myasthenic syndromes: Report of 7 Chile
حسب: Kleinsteuber, K, وآخرون
منشور في: (2003)