Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. - Wikidata - awgldk - TriplyDB

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

http://www.wikidata.org/entity/Q35624305

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Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis The Increasing Importance of Gene-Based Analyses Toward precision medicine in amyotrophic lateral sclerosis Impaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron Degeneration Progress and promise in understanding the genetic basis of common diseases ALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium Triad The Function of Autophagy in Neurodegenerative Diseases RNA-Binding Proteins in the Regulation of miRNA Activity: A Focus on Neuronal Functions Expanding the ubiquitin code through post-translational modification Interaction of RNA with a C-terminal fragment of the amyotrophic lateral sclerosis-associated TDP43 reduces cytotoxicity Advances in Stem Cell Research- A Ray of Hope in Better Diagnosis and Prognosis in Neurodegenerative Diseases Sending Out an SOS: Mitochondria as a Signaling Hub NEK1 variants confer susceptibility to amyotrophic lateral sclerosis The TBK1-binding domain of optineurin promotes type I interferon responses Are aberrant phase transitions a driver of cellular aging?Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death Neuronal Mitophagy in Neurodegenerative Diseases A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.Neuroinflammation - using big data to inform clinical practice.Sporadic ALS Astrocytes Induce Neuronal Degeneration In Vivo.High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum Autophagy, Endoplasmic Reticulum Stress and the Unfolded Protein Response in Intracerebral Hemorrhage.RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS.A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK Loss of Ranbp2 in motoneurons causes disruption of nucleocytoplasmic and chemokine signaling, proteostasis of hnRNPH3 and Mmp28, and development of amyotrophic lateral sclerosis-like syndromes Modelling amyotrophic lateral sclerosis: progress and possibilities Genetics and ALS: Cause for Optimism.Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort Optineurin regulates the interferon response in a cell cycle-dependent manner Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.Analysis of Genetic and Non-Genetic Factors Influencing Timing and Time Perception.Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences.Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls.SQSTM1 Mutations and Glaucoma.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

http://www.wikidata.org/entity/Q35624305

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2015 nî lūn-bûn

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name

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

@ast

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

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Aaron D Gitler

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Aaron G Day-Williams

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Alban Ordureau

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Alessandra Chesi

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Alya R Raphael

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Andrew S Allen

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Angela L Jones

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Athina Gkazi

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Braden E Boone

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Brian J Krueger

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P2860

An integrated map of genetic variation from 1,092 human genomes

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth

Defining the human deubiquitinating enzyme interaction landscape

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma

Network organization of the human autophagy system

Altered ribostasis: RNA-protein granules in degenerative disorders

Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function

Fast and accurate short read alignment with Burrows-Wheeler transform

State of play in amyotrophic lateral sclerosis genetics

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6229

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347

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Ammar Al-Chalabi

Diane McKenna-Yasek

Clotilde Lagier-Tourenne

Bradley N. Smith

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2015-02-19T00:00:00Z

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amyotrophic lateral sclerosis

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