Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
about
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersMutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning.Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.Cleft palate is caused by CNS dysfunction in Gad1 and Viaat knockout mice.Congenital myasthenic syndromes in 2012.Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeFetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodiesEscobar syndrome in three male patients of same familyZebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery.Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Structural correlates of affinity in fetal versus adult endplate nicotinic receptorsTruncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndromeMultiple pterygium syndrome: Challenge for anesthesiologist.Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.Asymmetric transmitter binding sites of fetal muscle acetylcholine receptors shape their synaptic responseEpidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limbMolecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Nicotinic acetylcholine receptors in human genetic disease.Salbutamol-responsive fetal acetylcholine receptor inactivation syndrome.Anesthesic management for escobar syndrome: case report.Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.Dok-7/MuSK signaling and a congenital myasthenic syndrome.Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome.Alternatively spliced variants of gamma-subunit of muscle-type acetylcholine receptor in fetal and adult skeletal muscle of mouse.Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases.Neuromotor synapses in Escobar syndrome.
P2860
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P2860
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
description
2006 nî lūn-bûn
@nan
2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@ast
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@en
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@nl
type
label
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@ast
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@en
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@nl
prefLabel
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@ast
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@en
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@nl
P2093
P2860
P50
P3181
P356
P1476
Escobar syndrome is a prenatal ...... e receptor fetal gamma subunit
@en
P2093
Andre Megarbane
Beril Talim
Christoph Hübner
Eliane Chouery
Ismat Ghanem
Juliane S Muller
Katrin Hoffmann
Lynn Adaimy
Monika Cohen
Tom H Lindner
P2860
P304
P3181
P356
10.1086/506257
P407
P50
P577
2006-08-01T00:00:00Z