Recent progress in understanding congenital cranial dysinnervation disorders
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A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceSurgical management of hypotropia in congenital fibrosis of extraocular muscles (CFEOM) presented by pseudoptosis.Duane retraction syndrome in a Nigerian childExpansion of the CHN1 strabismus phenotype.Responses of cells in the midbrain near-response area in monkeys with strabismus.Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I.Hard to swallow: Developmental biological insights into pediatric dysphagia.Comitant strabismus: Perspectives, present and future.Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder.A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndromeDynamic lineage analysis of embryonic morphogenesis using transgenic quail and 4D multispectral imaging.Fourth cranial nerve palsy and Brown syndrome: two interrelated congenital cranial dysinnervation disorders?Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders.Neuro-ophthalmology: Five new things.Magnetic Resonance Imaging of Optic Nerve Traction During Adduction in Primary Open-Angle Glaucoma With Normal Intraocular PressureA cellular and molecular mosaic establishes growth and differentiation states for cranial sensory neurons.Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis.Congenital ptosis associated with combined superior rectus, lateral rectus, and levator palpebrae synkinesis: the first reported case.Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation.Co-firing of levator palpebrae and masseter muscles links the masticatory and oculomotor system in humans.Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment.Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog.A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.Surgical treatment of Duane retraction syndrome.Duane retraction syndrome: causes, effects and management strategies.A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.MR imaging of congenital or developmental neuropathic strabismus: common and uncommon findings.Duane retraction syndrome in a patient with Duchenne muscular dystrophy.CCDD Phenotype Associated with a Small Chromosome 2 Deletion.Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.
P2860
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P2860
Recent progress in understanding congenital cranial dysinnervation disorders
description
2011 nî lūn-bûn
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2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
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2011年學術文章
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name
Recent progress in understanding congenital cranial dysinnervation disorders
@ast
Recent progress in understanding congenital cranial dysinnervation disorders
@en
type
label
Recent progress in understanding congenital cranial dysinnervation disorders
@ast
Recent progress in understanding congenital cranial dysinnervation disorders
@en
prefLabel
Recent progress in understanding congenital cranial dysinnervation disorders
@ast
Recent progress in understanding congenital cranial dysinnervation disorders
@en
P2093
P2860
P1476
Recent progress in understanding congenital cranial dysinnervation disorders
@en
P2093
Darren T Oystreck
Elizabeth C Engle
Thomas M Bosley
P2860
P356
10.1097/WNO.0B013E31820D0756
P577
2011-03-01T00:00:00Z