Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 - Wikidata - awgldk - TriplyDB

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

http://www.wikidata.org/entity/Q34325839

about

Specific regulation of NRG1 isoform expression by neuronal activity Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy Association study of neuregulin-1 gene polymorphisms in a North Indian schizophrenia sample.Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Neurological dysfunctions associated with altered BACE1-dependent Neuregulin-1 signaling.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Considering specific clinical features as evidence of pathogenic copy number variants.Clinical management of epileptic encephalopathies of childhood and infancy.Neuregulin-ERBB signaling in the nervous system and neuropsychiatric diseases ErbB4 modulates tubular cell polarity and lumen diameter during kidney development.Calpain-Dependent ErbB4 Cleavage Is Involved in Brain Ischemia-Induced Neuronal Death.Contribution of NRG1 Gene Polymorphisms in Temporal Lobe Epilepsy.Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.Neuregulin 1 represses limbic epileptogenesis through ErbB4 in parvalbumin-expressing interneurons.A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.Neuregulin 1-induced AKT and ERK phosphorylation in patients with fragile X syndrome (FXS) and intellectual disability associated with obstetric complications.Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese

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Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

http://www.wikidata.org/entity/Q34325839

description

2008 nî lūn-bûn

@nan

2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2008年の論文

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2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

@ast

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

@en

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

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type

label

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

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Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

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Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

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prefLabel

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

@ast

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

@en

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

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European Journal of Human Genetics

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Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

@en

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Berten Ceulemans

http://www.w3.org/2001/XMLSchema#string

Hilde Van Esch

http://www.w3.org/2001/XMLSchema#string

Joris Robert Vermeesch

http://www.w3.org/2001/XMLSchema#string

Koen Devriendt

http://www.w3.org/2001/XMLSchema#string

Liesbeth Backx

http://www.w3.org/2001/XMLSchema#string

P2860

The neuregulin-I/ErbB signaling system in development and disease

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

The three stages of epilepsy in patients with CDKL5 mutations

Expression of the c-erbB-4/HER4 protein and mRNA in normal human fetal and adult tissues and in a survey of nine solid tumour types

Defects in pathfinding by cranial neural crest cells in mice lacking the neuregulin receptor ErbB4

Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor

Neural development of the neuregulin receptor ErbB4 in the cerebral cortex and the hippocampus: preferential expression by interneurons tangentially migrating from the ganglionic eminences

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

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378-382

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scholarly article

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10.1038/EJHG.2008.180

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3

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17

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2008-10-15T00:00:00Z

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23319109

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18854870

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2986164

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