TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.
about
Advancing epilepsy genetics in the genomic eraTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathwayThe Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative StressThe genetic basis of DOORS syndrome: an exome-sequencing studyA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Unresolved questions regarding human hereditary deafness.Genetic and epigenetic mechanisms of epilepsy: a review.TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation.A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
P2860
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P2860
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
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2013年學術文章
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name
TBC1D24 mutation associated wi ...... rebro-cerebellar malformation.
@en
TBC1D24 mutation associated wi ...... rebro-cerebellar malformation.
@nl
type
label
TBC1D24 mutation associated wi ...... rebro-cerebellar malformation.
@en
TBC1D24 mutation associated wi ...... rebro-cerebellar malformation.
@nl
prefLabel
TBC1D24 mutation associated wi ...... rebro-cerebellar malformation.
@en
TBC1D24 mutation associated wi ...... rebro-cerebellar malformation.
@nl
P2093
P50
P1433
P1476
TBC1D24 mutation associated wi ...... erebro-cerebellar malformation
@en
P2093
Adel Shalata
Graeme D Jackson
Mark Corbett
Sara Kivity
Simri Walid
Zaid Afawi
P304
P356
10.1016/J.EPLEPSYRES.2013.02.005
P577
2013-03-19T00:00:00Z