De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

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http://www.wikidata.org/entity/Q41840638
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyKIF1A inhibition immortalizes brain stem cells but blocks BDNF-mediated neuronal migration.CCDC88A mutations cause PEHO-like syndrome in humans and mouseDe novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.Emerging roles for motor proteins in progenitor cell behavior and neuronal migration during brain development.Genetic control of postnatal human brain growth.Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation.Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.Potential Role of Microtubule Stabilizing Agents in Neurodevelopmental Disorders.Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.The KIF1A homolog Unc-104 is important for spontaneous release, postsynaptic density maturation and perisynaptic scaffold organization.Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy.Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.Neurometabolic disorders: Five new things.A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
P2860

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

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http://www.wikidata.org/entity/Q41840638
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
@en
type
label
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
@en
prefLabel
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932