Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
about
Microtubule plus-end tracking proteins in neuronal developmentGenes and brain malformations associated with abnormal neuron positioningA developmental and genetic classification for malformations of cortical development: update 2012Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysisGenetic malformations of the cerebral cortex and epilepsyEssential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosaDictyostelium LIS1 is a centrosomal protein required for microtubule/cell cortex interactions, nucleus/centrosome linkage, and actin dynamicsDampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformationsNeuronal migration, cerebral cortical development, and cerebral cortical anomalies.The genetics of lissencephaly.Neuronal migration disorders, genetics, and epileptogenesis.Surgery for malformations of cortical development causing epilepsy.Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypesEpilepsy and genetic malformations of the cerebral cortex.Genotypically defined lissencephalies show distinct pathologies.Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyGenetics of inherited human epilepsiesLis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.Cortical dysplasia: a possible substrate for brain tumors.A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.Integrative mechanisms of oriented neuronal migration in the developing brain.Causes and consequences of gray matter heterotopia.LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.Voxel-based 3D MRI analysis helps to detect subtle forms of subcortical band heterotopia.A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.Malformations of cortical development and epilepsyMosaic DCX deletion causes subcortical band heterotopia in malesThe Genetics of Brain Malformations
P2860
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P2860
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@ast
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@en
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@nl
type
label
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@ast
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@en
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@nl
prefLabel
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@ast
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@en
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@nl
P2093
P356
P1476
Subcortical band heterotopia i ...... utations in DCX (XLIS) or LIS1
@en
P2093
P304
P356
10.1093/HMG/8.9.1757
P407
P577
1999-09-01T00:00:00Z