LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
about
Genes and brain malformations associated with abnormal neuron positioningBeta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdownLis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviourThe genetics of lissencephaly.Molecular genetics of neuronal migration disorders.Genomic variants and variations in malformations of cortical development.Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyIncreased Blood-Reelin-Levels in First Episode SchizophreniaAn isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene.A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.Type 1 lissencephaly and multiple afebrile seizures in a 2-month-old baby.Recurrent KIF2A mutations are responsible for classic lissencephaly.WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.An Essential Postdevelopmental Role for Lis1 in Mice.A novel recurrent LIS1 splice site mutation in classic lissencephaly.Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.Mosaic DCX deletion causes subcortical band heterotopia in malesComprehensive genotype-phenotype correlation in lissencephaly
P2860
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P2860
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
LIS1-related isolated lissence ...... ps with malformation severity.
@en
LIS1-related isolated lissence ...... ps with malformation severity.
@nl
type
label
LIS1-related isolated lissence ...... ps with malformation severity.
@en
LIS1-related isolated lissence ...... ps with malformation severity.
@nl
prefLabel
LIS1-related isolated lissence ...... ps with malformation severity.
@en
LIS1-related isolated lissence ...... ps with malformation severity.
@nl
P2093
P50
P1433
P1476
LIS1-related isolated lissence ...... ps with malformation severity.
@en
P2093
Agathe Roubertie
Caroline Elie
Chloé Quelin
Chérif Beldjord
Claude Cances
Dominique Broglin
Gaelle Pitelet
Jamel Chelly
Jean Marc Pinard
Marie Anne Barthez
P304
P356
10.1001/ARCHNEUROL.2009.149
P577
2009-08-01T00:00:00Z