Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersThe cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerizationThe emerging diversity of neuromuscular junction disordersCongenital 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 patientsMutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interactionThe downstream of tyrosine kinase 7 is reduced in lung cancer and is associated with poor survival of patients with lung cancerEphedrine treatment in congenital myasthenic syndrome due to mutations in DOK7Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-LDOK7 congenital myasthenic syndrome.A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.Current status of the congenital myasthenic syndromes.Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Multiscale Simulations Suggest a Mechanism for the Association of the Dok7 PH Domain with PIP-Containing Membranes.Sorbs1 and -2 Interact with CrkL and Are Required for Acetylcholine Receptor Cluster Formation.Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter ReleaseDocking proteins.Synaptic dysfunction in congenital myasthenic syndromes.Neuromuscular disorders in zebrafish: state of the art and future perspectives.The role of MuSK in synapse formation and neuromuscular disease.Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.Dok-7/MuSK signaling and a congenital myasthenic syndrome.Prenatal and postnatal evaluation of polymicrogyria with band heterotopia.Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.Effect of 3,4-diaminopyridine at the murine neuromuscular junction.Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis.Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.Clinical and research strategies for limb-girdle congenital myasthenic syndromes.Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders.Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.Fundamental Molecules and Mechanisms for Forming and Maintaining Neuromuscular Synapses.
P2860
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P2860
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
@en
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
@nl
type
label
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
@en
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
@nl
prefLabel
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
@en
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
@nl
P2093
P50
P356
P1433
P1476
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
@en
P2093
Agnes Herczegfalvi
Angela Huebner
Chantal Poulin
David Beeson
Jaume Colomer
Juliane S Müller
Linda L Bachinski
Manuela Santos
P304
P356
10.1093/BRAIN/AWM068
P407
P577
2007-04-17T00:00:00Z