The genetic diagnosis of congenital myasthenic syndromes (CMS)

The genetic diagnosis of congenital myasthenic syndromes (CMS)

Podrobná bibliografie
Hlavní autoři:	Man, S, Cossins, J, Clouston, P, Burke, G, Palace, J, Seller, A, Newsom-Davis, J, Beeson, D
Médium:	Conference item
Vydáno:	2005

Podobné jednotky

A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
Autor: Burke, G, a další
Vydáno: (2006)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
Autor: Beeson, D, a další
Vydáno: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
Autor: Beeson, D, a další
Vydáno: (2008)

Development of a dHPLC-WAVE service to detect mutations in congenital myasthenic syndrome
Autor: Man, S, a další
Vydáno: (2002)

The congenital myasthenic syndromes.
Autor: Palace, J, a další
Vydáno: (2008)

Congenital myasthenic syndromes.
Autor: Beeson, D, a další
Vydáno: (1997)

Congenital myasthenic syndromes: an update.
Autor: Finlayson, S, a další
Vydáno: (2013)

Congenital myasthenic syndromes and the neuromuscular junction.
Autor: Cruz, P, a další
Vydáno: (2014)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
Autor: Lashley, D, a další
Vydáno: (2009)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
Autor: Finlayson, S, a další
Vydáno: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Autor: Finlayson, S, a další
Vydáno: (2013)

Therapeutic strategies for congenital myasthenic syndromes
Autor: Lee, M, a další
Vydáno: (2018)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
Autor: Vincent, A, a další
Vydáno: (1993)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
Autor: Vincent, A, a další
Vydáno: (1993)

Prevalence and geographical distribution of UK congenital myasthenic syndrome patients referred to the oxford national specialist commissioning advisory group service
Autor: Lashley, D, a další
Vydáno: (2007)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
Autor: Rodríguez Cruz, P, a další
Vydáno: (2018)

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Autor: Belaya, K, a další
Vydáno: (2012)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
Autor: Mewasingh, L, a další
Vydáno: (2006)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
Autor: Croxen, R, a další
Vydáno: (2000)

DOK7 congenital myasthenic syndrome.
Autor: Palace, J
Vydáno: (2012)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
Autor: Lashley, D, a další
Vydáno: (2010)

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

Congenital myasthenic syndromes: Epidemiology, clinical phenotyping and aids to diagnosis in the neuromuscular clinic
Autor: Healy, E, a další
Vydáno: (2014)

Diagnosis of Congenital Myasthenic Syndromes
Autor: J Gordon Millichap
Vydáno: (2004-02-01)

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
Autor: Webster, R, a další
Vydáno: (2002)

Synaptic dysfunction in congenital myasthenic syndromes.
Autor: Beeson, D
Vydáno: (2012)

Congenital myasthenic syndromes: recent advances
Autor: Beeson, D
Vydáno: (2016)

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
Autor: Belaya, K, a další
Vydáno: (2012)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
Autor: Cossins, J, a další
Vydáno: (2013)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
Autor: Croxen, R, a další
Vydáno: (2002)

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Autor: Belaya, K, a další
Vydáno: (2012)

Congenital myasthenic syndromes (CMS) a rare cause of uncommon fatigue
Autor: Jan Lejman, a další
Vydáno: (2022-12-01)

New diagnosis in Chilean population: congenital myasthenic syndromes
Autor: Kleinsteuber, K, a další
Vydáno: (2005)

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Autor: Cossins, J, a další
Vydáno: (2012)

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure
Autor: Rodríguez Cruz, PM, a další
Vydáno: (2019)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
Autor: Cossins, J, a další
Vydáno: (2013)

Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
Autor: Webster, R, a další
Vydáno: (2011)

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

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
Autor: Brownlow, S, a další
Vydáno: (2000)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
Autor: Webster, R, a další
Vydáno: (2004)