Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.
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Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomaliesUpdate on oral-facial-digital syndromes (OFDS)CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesPrimary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.NudC regulates actin dynamics and ciliogenesis by stabilizing cofilin 1.Update on neuroimaging phenotypes of mid-hindbrain malformations.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyOfd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.Primary cilia found on HeLa and other cancer cellsSUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors.Validation of In utero Tractography of Human Fetal Commissural and Internal Capsule Fibers with Histological Structure Tensor Analysis.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Joubert syndrome: congenital cerebellar ataxia with the molar toothMKS1 regulates ciliary INPP5E levels in Joubert syndrome.A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L.Abnormal glycosylation in Joubert syndrome type 10.What does the developing brain tell us about neural diseases?Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Linking the Primary Cilium to Cell Migration in Tissue Repair and Brain Development.Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes.Role of Shh in the development of molecularly characterized tegmental nuclei in mouse rhombomere 1.OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.Physiotherapy and Rehabilitation in a Child with Joubert Syndrome.Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.Primary cilia are critical for Sonic hedgehog-mediated dopaminergic neurogenesis in the embryonic midbrain.Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
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Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Joubert syndrome: brain and sp ...... al functions of primary cilia.
@en
Joubert syndrome: brain and sp ...... al functions of primary cilia.
@nl
type
label
Joubert syndrome: brain and sp ...... al functions of primary cilia.
@en
Joubert syndrome: brain and sp ...... al functions of primary cilia.
@nl
prefLabel
Joubert syndrome: brain and sp ...... al functions of primary cilia.
@en
Joubert syndrome: brain and sp ...... al functions of primary cilia.
@nl
P2093
P2860
P1476
Joubert syndrome: brain and sp ...... al functions of primary cilia.
@en
P2093
Dan Doherty
Gordana Juric-Sekhar
Jonathan Adkins
Robert F Hevner
P2860
P2888
P304
P356
10.1007/S00401-012-0951-2
P577
2012-02-14T00:00:00Z