Synaptic defects in type I spinal muscular atrophy in human development. - Wikidata - awgldk - TriplyDB

Synaptic defects in type I spinal muscular atrophy in human development.

Synaptic defects in type I spinal muscular atrophy in human development.

http://www.wikidata.org/entity/Q47322638

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Small molecule suppressors of Drosophila kinesin deficiency rescue motor axon development in a zebrafish model of spinal muscular atrophy Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.Morphological analysis of neuromuscular junction development and degeneration in rodent lumbrical muscles.Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons Spinal muscular atrophy: journeying from bench to bedside Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins.Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy.Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.Decreased function of survival motor neuron protein impairs endocytic pathways.The DcpS inhibitor RG3039 improves motor function in SMA mice.Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond.Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs.Spectrum of neuropathophysiology in spinal muscular atrophy type I The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy Dissection of the transversus abdominis muscle for whole-mount neuromuscular junction analysis Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III The craniosacral progression of muscle development influences the emergence of neuromuscular junction alterations in a severe murine model for spinal muscular atrophy.SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy.Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice.Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy.Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy.A continuous repetitive task to detect fatigability in spinal muscular atrophy

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P2860

Synaptic defects in type I spinal muscular atrophy in human development.

http://www.wikidata.org/entity/Q47322638

description

2013 nî lūn-bûn

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2013年の論文

@ja

2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

@zh-my

2013年学术文章

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2013年學術文章

@yue

2013年學術文章

@zh-hant

name

Synaptic defects in type I spinal muscular atrophy in human development.

@en

Synaptic defects in type I spinal muscular atrophy in human development.

@nl

type

label

Synaptic defects in type I spinal muscular atrophy in human development.

@en

Synaptic defects in type I spinal muscular atrophy in human development.

@nl

prefLabel

Synaptic defects in type I spinal muscular atrophy in human development.

@en

Synaptic defects in type I spinal muscular atrophy in human development.

@nl

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P1433

The Journal of Pathology

P1476

Synaptic defects in type I spinal muscular atrophy in human development.

@en

P2093

Eduardo F Tizzano

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

Eva Also-Rallo

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Josep E Esquerda

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Laura Alías

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Marta Hereu

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María Jesús Barceló

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Rebeca Martínez-Hernández

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Sara Bernal

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P2860

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

Identification and characterization of a spinal muscular atrophy-determining gene

Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning.

Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better.

Compound muscle action potential and motor function in children with spinal muscular atrophy.

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

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49-61

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10.1002/PATH.4080

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1

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229

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2013-01-01T00:00:00Z

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22847626

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P921

spinal muscular atrophy