about
Joubert Syndrome and related disordersThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromePrimary cilia in the developing and mature brainModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentAhi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle traffickingVariability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations.Clinical and molecular features of Joubert syndrome and related disorders.Human genetic disorders of axon guidance.Clinical features and revised diagnostic criteria in Joubert syndrome.Neurophysiologic characterization of motor and sensory projections in Joubert syndrome.Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformationGenetic basis of Joubert syndrome and related disorders of cerebellar development.Validation of In utero Tractography of Human Fetal Commissural and Internal Capsule Fibers with Histological Structure Tensor Analysis.Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.Semaphorin-6A controls guidance of corticospinal tract axons at multiple choice pointsJoubert syndrome: congenital cerebellar ataxia with the molar toothA developmental and genetic classification for midbrain-hindbrain malformations.Arl13b regulates Shh signaling from both inside and outside the cilium.A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.Eye movement abnormalities in Joubert syndrome.Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.A report of Joubert syndrome in an infant, with literature review.Diffusion tensor imaging and fiber tractography in brain malformations.Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.The corticospinal tract: Evolution, development, and human disorders.Cerebellar infarction: an unrecognized complication of very low birthweight.Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report.Physiotherapy and Rehabilitation in a Child with Joubert Syndrome.Pyramidal tract abnormalities in the human fetus and infant with trisomy 18 syndrome.Diffusion tensor imaging in Joubert syndrome.Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.Isolated posterior cerebellar vermal defect: a morphological study of midsagittal cerebellar vermis in 4 fetuses--early stage of Dandy-Walker continuum or new vermal dysgenesis?"Staircase" saccadic intrusions plus transient yoking and neural integrator failure associated with cerebellar hypoplasia: a model simulation.Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.Diagnosis of Joubert syndrome via ultrasonography.Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation.Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.Mortality in Joubert syndrome.
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh
1999年學術文章
@zh-hant
name
Neuropathology of Joubert syndrome.
@en
Neuropathology of Joubert syndrome.
@nl
type
label
Neuropathology of Joubert syndrome.
@en
Neuropathology of Joubert syndrome.
@nl
prefLabel
Neuropathology of Joubert syndrome.
@en
Neuropathology of Joubert syndrome.
@nl
P2860
P1476
Neuropathology of Joubert syndrome.
@en
P2093
A T Yachnis
P2860
P304
655-9; discussion 669-72
P356
10.1177/088307389901401006
P577
1999-10-01T00:00:00Z