Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

OBJECTIVE: The congenital myasthenic syndromes (CMS) are a group of genetic disorders of neuromuscular transmission causing fatigable weakness. Symptoms may be present from birth, but diagnosis is often delayed for several years, notably in post-synaptic CMS due to mutations in the DOK7 gene. Recent...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Jephson, C, Mills, N, Pitt, M, Beeson, D, Aloysius, A, Muntoni, F, Robb, SA, Bailey, C
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	2010

Míreanna comhchosúla

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

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
de réir: Klein, A, et al.
Foilsithe / Cruthaithe: (2013)

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children
de réir: Klein, A, et al.
Foilsithe / Cruthaithe: (2013)

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
de réir: Burke, G, et al.
Foilsithe / Cruthaithe: (2013)

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

Dok-7/MuSK signaling and a congenital myasthenic syndrome.
de réir: Yamanashi, Y, et al.
Foilsithe / Cruthaithe: (2008)

DOK7 Mutations in Congenital Myasthenic Syndromes
de réir: J Gordon Millichap
Foilsithe / Cruthaithe: (2007-06-01)

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
de réir: Cossins, J, et al.
Foilsithe / Cruthaithe: (2012)

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
de réir: Müller, J, et al.
Foilsithe / Cruthaithe: (2007)

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

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

DOK7 congenital myasthenic syndrome: case series and review of literature
de réir: Bentolhoda Ziaadini, et al.
Foilsithe / Cruthaithe: (2024-06-01)

Effects of beta-2 adrenergic receptor agonists in DOK7 congenital myasthenic syndrome
de réir: Clausen, L
Foilsithe / Cruthaithe: (2015)

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
de réir: Jorge A. Bevilacqua, et al.
Foilsithe / Cruthaithe: (2017-09-01)

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

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

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

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
de réir: Hamuro, J, et al.
Foilsithe / Cruthaithe: (2008)

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

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)

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)

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

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

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)

Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia
de réir: Cossins, J, et al.
Foilsithe / Cruthaithe: (2025)

EPHEDRINE TREATMENT RESULTS IN PROFOUND FUNCTIONAL IMPROVEMENTS IN DOK-7 CONGENITAL MYASTHENIA
de réir: Lashley, D, et al.
Foilsithe / Cruthaithe: (2009)

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

CONGENITAL LARYNGEAL STRIDOR: DIAGNOSTICS AND TREATMENT
de réir: A.Yu. Petrunichev, et al.
Foilsithe / Cruthaithe: (2011-01-01)

CONGENITAL LARYNGEAL STRIDOR: DIAGNOSTICS AND TREATMENT
de réir: A.Yu. Petrunichev, et al.
Foilsithe / Cruthaithe: (2011-01-01)

Stridor at Birth: Congenital Laryngeal Web
de réir: Ma. Victoria P. Pascual
Foilsithe / Cruthaithe: (2015-12-01)

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

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)

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

Congenital Myasthenic Syndromes
de réir: J Gordon Millichap
Foilsithe / Cruthaithe: (1994-01-01)

Congenital Myasthenic Syndrome
de réir: WANG Wenqing, et al.
Foilsithe / Cruthaithe: (2022-04-01)