Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
about
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesIn vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family ProteinsDifferent Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.Ctip2-, Satb2-, Prox1-, and GAD65-Expressing Neurons in Rat Cultures: Preponderance of Single- and Double-Positive Cells, and Cell Type-Specific Expression of Neuron-Specific Gene Family Members, Nsg-1 (NEEP21) and Nsg-2 (P19)Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyHereditary lissencephaly and cerebellar hypoplasia in Churra lambsFunction and regulation of Rnd proteins in cortical projection neuron migrationEverolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression.Double Cortex Syndrome (Subcortical Band Heterotopia): A Case ReportSymmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.Cytoskeleton in action: lissencephaly, a neuronal migration disorderSDF1 reduces interneuron leading process branching through dual regulation of actin and microtubulesCentrosomes and cilia in human disease.In Vitro, Ex Vivo and In Vivo Techniques to Study Neuronal Migration in the Developing Cerebral Cortex.The function of sperm-associated antigen 6 in neuronal proliferation and differentiation.Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging.Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.Comprehensive genotype-phenotype correlation in lissencephaly
P2860
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P2860
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@ast
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@en
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@nl
type
label
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@ast
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@en
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@nl
prefLabel
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@ast
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@en
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@nl
P2093
P2860
P921
P1476
Role of cytoskeletal abnormali ...... iology of type I lissencephaly
@en
P2093
Gaëlle Friocourt
Marie-Lise Quille
Pascale Marcorelles
Pascale Saugier-Veber
Stephane Marret
P2860
P2888
P304
P356
10.1007/S00401-010-0768-9
P577
2010-11-03T00:00:00Z
2011-02-01T00:00:00Z