PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. - Wikidata - awgldk - TriplyDB

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

http://www.wikidata.org/entity/Q37457457

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The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability.PRRT2, a network stability gene.Gli2 Rescues Delays in Brain Development Induced by Kif3a Dysfunction.PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia

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PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

http://www.wikidata.org/entity/Q37457457

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 09 May 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

@en

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

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type

label

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

@en

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

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prefLabel

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

@en

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

@nl

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ONCOTARGET.9258

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PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

@en

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Bing-Wen Soong

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Chia-Wei Huang

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Chien Chen

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Chin-Yi Chen

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Chin-Yin Tai

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Fang-Shin Nian

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Pei-Wen Kuo

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Po-Hsi Lin

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Shang-Yeong Kwan

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Wan-Ju Chou

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P2860

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

A human protein-protein interaction network: a resource for annotating the proteome

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein

Structure-stability-function relationships of dendritic spines

The rat brain postsynaptic density fraction contains a homolog of the Drosophila discs-large tumor suppressor protein

Neurons derived from radial glial cells establish radial units in neocortex

Dual subcellular roles for LIS1 and dynein in radial neuronal migration in live brain tissue

High-resolution proteomics unravel architecture and molecular diversity of native AMPA receptor complexes

LIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stages

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39184-39196

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