The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

Show other versions (1)

Bibliografiske detaljer
Main Authors:	Müller, J, Abicht, A, Burke, G, Cossins, J, Richard, P, Baumeister, S, Stucka, R, Eymard, B, Hantaï, D, Beeson, D, Lochmüller, H
Format:	Journal article
Sprog:	English
Udgivet:	2004

Lignende værker

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
af: Muller, J, et al.
Udgivet: (2004)

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

Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes
af: Cheung, JY
Udgivet: (2016)

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
af: Beeson, D, et al.
Udgivet: (2005)

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
af: Thompson, R, et al.
Udgivet: (2018)

186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.
af: Chaouch, A, et al.
Udgivet: (2012)

186th ENMC International Workshop: Congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands
af: Chaouch, A, et al.
Udgivet: (2012)

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
af: Müller, J, et al.
Udgivet: (2006)

Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN
af: Zhiping Zhang, et al.
Udgivet: (2024-03-01)

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
af: Rachel Thompson, et al.
Udgivet: (2018-11-01)

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

The congenital myasthenic syndromes.
af: Palace, J, et al.
Udgivet: (2008)

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

Congenital myasthenic syndromes.
af: Beeson, D, et al.
Udgivet: (1997)

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

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

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
af: Zoltowska, K, et al.
Udgivet: (2013)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
af: Zoltowska, K, et al.
Udgivet: (2013)

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

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

Congenital myasthenic syndromes: an update.
af: Finlayson, S, et al.
Udgivet: (2013)

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

Synaptic dysfunction in congenital myasthenic syndromes.
af: Beeson, D
Udgivet: (2012)

Congenital myasthenic syndromes: recent advances
af: Beeson, D
Udgivet: (2016)

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

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

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

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
af: Cossins, J, et al.
Udgivet: (2013)

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

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

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
af: Cossins, J, et al.
Udgivet: (2012)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
af: Adela Della Marina, et al.
Udgivet: (2020-12-01)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
af: Cossins, J, et al.
Udgivet: (2013)

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
af: Vogt, J, et al.
Udgivet: (2008)

Mutation analysis of CHRNA1, CHRNB1, CHRND and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients
af: Vogt, J, et al.
Udgivet: (2007)

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
af: Chang, T, et al.
Udgivet: (2016)

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

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
af: Müller, J, et al.
Udgivet: (2007)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
af: Webster, R, et al.
Udgivet: (2014)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
af: Webster, R, et al.
Udgivet: (2014)