Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. - Wikidata - awgldk - TriplyDB

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

http://www.wikidata.org/entity/Q50573684

about

Genetic Basis of Brain Malformations Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI.Multinodular and vacuolating neuronal tumors in epilepsy: dysplasia or neoplasia?NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.DEPDC5 mutations in familial and sporadic focal epilepsy.Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.GATOR1 complex: the common genetic actor in focal epilepsies.Precision medicine in genetic epilepsies: break of dawn?Pharmacogenomics in epilepsy.Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.DEPDC5 as a potential therapeutic target for epilepsy.Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex.Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.Commentary: GATOR Complex-Associated Epilepsies.Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.Dendrite Growth and the Effect of Ectopic Rheb Expression on Cortical Neurons.Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.Sleep Related Epilepsy and Pharmacotherapy: An Insight Sleep-related hypermotor epilepsy: prevalence, impact and management strategies

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P2860

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

http://www.wikidata.org/entity/Q50573684

description

2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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2015年學術文章

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name

Familial cortical dysplasia ca ...... of rapamycin regulator NPRL3.

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Familial cortical dysplasia ca ...... of rapamycin regulator NPRL3.

@nl

type

label

Familial cortical dysplasia ca ...... of rapamycin regulator NPRL3.

@en

Familial cortical dysplasia ca ...... of rapamycin regulator NPRL3.

@nl

prefLabel

Familial cortical dysplasia ca ...... of rapamycin regulator NPRL3.

@en

Familial cortical dysplasia ca ...... of rapamycin regulator NPRL3.

@nl

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P1433

Annals of Neurology

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Familial cortical dysplasia ca ...... of rapamycin regulator NPRL3.

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P2093

A Simon Harvey

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

Duncan MacGregor

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George McGillivray

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Greta Gillies

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Hanna van Roozendaal

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Jessica R Riseley

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Joe C Sim

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Kate Pope

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Lakshminarayanan Kannan

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Martin B Delatycki

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P2860

A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Genic intolerance to functional variation and the interpretation of personal genomes

Biallelic TSC gene inactivation in tuberous sclerosis complex

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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132-137

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scholarly article

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10.1002/ANA.24502

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1

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79

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Paul J. Lockhart

Julian Ik-Tsen Heng

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2015-08-18T00:00:00Z

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281141185

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26285051

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