Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
about
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patientsHorizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3Genetic dissection of the function of hindbrain axonal commissuresSynergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sistersUnidirectional startle responses and disrupted left-right co-ordination of motor behaviors in robo3 mutant zebrafish.Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.Horizontal gaze palsy with progressive scoliosis: CT and MR findings.Neuropareidolia: diagnostic clues apropos of visual illusions.Clinical characterization of the HOXA1 syndrome BSAS variantHuman genetic disorders of axon guidance.Midline axon guidance and human genetic disorders.Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorderHuman disorders of axon guidance.Four-limb muscle motor evoked potential and optimized somatosensory evoked potential monitoring with decussation assessment: results in 206 thoracolumbar spine surgeries.Recent progress in understanding congenital cranial dysinnervation disordersSynergistic divergence: a distinct ocular motility dysinnervation pattern.A developmental and genetic classification for midbrain-hindbrain malformations.Identification of cellular proteins that interact with human cytomegalovirus immediate-early protein 1 by protein array assay.Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigationPontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome.Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.Horizontal gaze palsy and scoliosis: a case report and review of the literature.Congenital and Genetic Ocular Motility Disorders: Update and Considerations.Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis.The corticospinal tract: Evolution, development, and human disorders.Congenital cranial dysinnervation disorders.The Robo3 receptor, a key player in the development, evolution, and function of commissural systems.Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis.Synergistic convergence and substituted convergence.Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.Horizontal gaze palsy with progressive scoliosis - A case report.Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.The neurology of carbonic anhydrase type II deficiency syndrome.Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study.Acquired Convergence Substitution in Horizontal Gaze Palsy and Progressive Scoliosis Associated withROBO3Mutations
P2860
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P2860
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Neurologic features of horizon ...... liosis with mutations in ROBO3
@ast
Neurologic features of horizon ...... liosis with mutations in ROBO3
@en
Neurologic features of horizon ...... liosis with mutations in ROBO3
@nl
type
label
Neurologic features of horizon ...... liosis with mutations in ROBO3
@ast
Neurologic features of horizon ...... liosis with mutations in ROBO3
@en
Neurologic features of horizon ...... liosis with mutations in ROBO3
@nl
prefLabel
Neurologic features of horizon ...... liosis with mutations in ROBO3
@ast
Neurologic features of horizon ...... liosis with mutations in ROBO3
@en
Neurologic features of horizon ...... liosis with mutations in ROBO3
@nl
P2093
P1433
P1476
Neurologic features of horizon ...... liosis with mutations in ROBO3
@en
P2093
D B MacDonald
D Oystreck
H al Dhalaan
K K Abu-Amero
M A M Salih
P304
P356
10.1212/01.WNL.0000156349.01765.2B
P407
P577
2005-04-12T00:00:00Z