Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
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Inside out: the role of nucleocytoplasmic transport in ALS and FTLDRecent advances in amyotrophic lateral sclerosisDysregulated axonal RNA translation in amyotrophic lateral sclerosisThe Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative MedicineThe cytoskeletal arrangements necessary to neurogenesisGolgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport VesiclesNeurodegeneration and microtubule dynamics: death by a thousand cutsClinical and genetic basis of familial amyotrophic lateral sclerosisATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure.A Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During DiseaseTDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyNEK1 variants confer susceptibility to amyotrophic lateral sclerosisOxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutationsUner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityTUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.Establishing the UK DNA Bank for motor neuron disease (MND).Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy modelsModelling amyotrophic lateral sclerosis: progress and possibilitiesDifferential regulation of polarized synaptic vesicle trafficking and synapse stability in neural circuit rewiring in Caenorhabditis elegansDido mutations trigger perinatal death and generate brain abnormalities and behavioral alterations in surviving adult mice.Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.Golgi fragmentation in amyotrophic lateral sclerosis, an overview of possible triggers and consequences.Preferential PPAR-α activation reduces neuroinflammation, and blocks neurodegeneration in vivo.CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss.Stathmin 1/2-triggered microtubule loss mediates Golgi fragmentation in mutant SOD1 motor neurons.Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation.Motor neuron disease in 2014. Biomarkers for ALS--in search of the Promised LandDiscovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.A retrospective review of the progress in amyotrophic lateral sclerosis drug discovery over the last decade and a look at the latest strategies.The role of de novo mutations in the development of amyotrophic lateral sclerosis.Molecular basis of ALS and FTD: implications for translational studies.New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.FUS inclusions disrupt RNA localization by sequestering kinesin-1 and inhibiting microtubule detyrosination.Genetics of movement disorders in the next-generation sequencing era.The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.Genetics of FTLD: overview and what else we can expect from genetic studies.Further development of biomarkers in amyotrophic lateral sclerosis.
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P2860
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
@zh-my
2014年学术文章
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2014年學術文章
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name
Exome-wide rare variant analys ...... associated with familial ALS.
@ast
Exome-wide rare variant analys ...... associated with familial ALS.
@en
type
label
Exome-wide rare variant analys ...... associated with familial ALS.
@ast
Exome-wide rare variant analys ...... associated with familial ALS.
@en
prefLabel
Exome-wide rare variant analys ...... associated with familial ALS.
@ast
Exome-wide rare variant analys ...... associated with familial ALS.
@en
P2093
P2860
P50
P1433
P1476
Exome-wide rare variant analys ...... associated with familial ALS.
@en
P2093
Alberto García-Redondo
Andrew King
Anneloor L M A ten Asbroek
Antonia Ratti
Cinzia Tiloca
Claire S Leblond
Claudia Colombrita
Claudia Fallini
Daniela Calini
Elizabeth A Lewis
P2860
P304
P356
10.1016/J.NEURON.2014.09.027
P407
P50
P577
2014-10-22T00:00:00Z