Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
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Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromesCongenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentCongenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsEffects of the ß2-adrenoceptor agonist, albuterol, in a mouse model of anti-MuSK myasthenia gravisProtein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction.A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.Congenital myasthenic syndromes in 2012.Current status of the congenital myasthenic syndromes.A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic SyndromeSalbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.Skeletal muscle calpain acts through nitric oxide and neural miRNAs to regulate acetylcholine release in motor nerve terminals.Therapeutic strategies in congenital myasthenic syndromes.Clinical aspects of myasthenia explained.Synaptic basal lamina-associated congenital myasthenic syndromes.Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis.Inherited disorders of the neuromuscular junction: an update.COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature ReviewRespiratory chain deficiency in nonmitochondrial disease.Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectClinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.Clinical and research strategies for limb-girdle congenital myasthenic syndromes.Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.Near-complete adaptation of the PRiMA knockout to the lack of central acetylcholinesterase.Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency.Collagen Q--a potential target for autoantibodies in myasthenia gravis.CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
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P2860
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
@en
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
@nl
type
label
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
@en
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
@nl
prefLabel
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
@en
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
@nl
P2093
P2860
P50
P356
P1433
P1476
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
@en
P2093
Agnes Herczegfalvi
Bernhard Weschke
Dana Siskova
Felix Schreiner
Friederike Hoellen
Gerhard Kurlemann
Jaume Colomer
Joachim Wölfle
Juliane S Müller
Katarina Fabriciova
P2860
P304
P356
10.1093/BRAIN/AWM325
P407
P577
2008-01-07T00:00:00Z