KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
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Axonal transport: cargo-specific mechanisms of motility and regulationWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesThe vesicle protein SAM-4 regulates the processivity of synaptic vesicle transportDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyThe kinesin-3, unc-104 regulates dendrite morphogenesis and synaptic development in Drosophila.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Motor protein mutations cause a new form of hereditary spastic paraplegiaGenome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Delineation of C12orf65-related phenotypes: a genotype-phenotype relationshipDeCoN: genome-wide analysis of in vivo transcriptional dynamics during pyramidal neuron fate selection in neocortex.The use of next-generation sequencing in movement disordersDominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.KIF1A inhibition immortalizes brain stem cells but blocks BDNF-mediated neuronal migration.Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic ParaplegiaRegulated protein aggregation: stress granules and neurodegenerationMAPping out distribution routes for kinesin couriers.Emerging roles for motor proteins in progenitor cell behavior and neuronal migration during brain development.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.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.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.Hippocampal to basal forebrain transport of Mn2+ is impaired by deletion of KLC1, a subunit of the conventional kinesin microtubule-based motor.KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.Multigeneration family with dominant SPG30 hereditary spastic paraplegia.Interactome analysis reveals ZNF804A, a schizophrenia risk gene, as a novel component of protein translational machinery critical for embryonic neurodevelopment.Kinesin Processivity Is Determined by a Kinetic Race from a Vulnerable One-Head-Bound State.Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.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.KIF1A mutation in a patient with progressive neurodegeneration.Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination
P2860
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P2860
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
KIF1A missense mutations in SP ...... to the nature of the mutations
@ast
KIF1A missense mutations in SP ...... to the nature of the mutations
@en
type
label
KIF1A missense mutations in SP ...... to the nature of the mutations
@ast
KIF1A missense mutations in SP ...... to the nature of the mutations
@en
prefLabel
KIF1A missense mutations in SP ...... to the nature of the mutations
@ast
KIF1A missense mutations in SP ...... to the nature of the mutations
@en
P2093
P2860
P50
P356
P1476
KIF1A missense mutations in SP ...... to the nature of the mutations
@en
P2093
Agnès Rastetter
Alexander Lossos
Batel Zimmerman
Cecilia Marelli
Delphine Bouteiller
Elodie Martin
Emeline Mundwiller
Gabor Gyapay
Hamid Azzedine
P2860
P2888
P304
P356
10.1038/EJHG.2011.261
P577
2012-01-18T00:00:00Z