Exome sequencing to identify de novo mutations in sporadic ALS trios
about
Association claims in the sequencing eraPrion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative diseaseRole of nucleosome remodeling in neurodevelopmental and intellectual disability disordersState of play in amyotrophic lateral sclerosis geneticsNew insights into the generation and role of de novo mutations in health and diseaseEmerging mechanisms of molecular pathology in ALSOxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutationsSearching for a link between the L-BMAA neurotoxin and amyotrophic lateral sclerosis: a study protocol of the French BMAALS programmeKinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathwaysTargeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.Epigenetic mechanisms underlying the pathogenesis of neurogenetic diseasesThe role of BAF (mSWI/SNF) complexes in mammalian neural development.Calcium-responsive transactivator (CREST) protein shares a set of structural and functional traits with other proteins associated with amyotrophic lateral sclerosis.Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.Prion-like domains in RNA binding proteins are essential for building subnuclear paraspeckles.CRESTing the ALS mountainGenome-wide analysis of the heritability of amyotrophic lateral sclerosis.RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord.A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.Creating a neural specific chromatin landscape by npBAF and nBAF complexes.Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.mirDNMR: a gene-centered database of background de novo mutation rates in human.denovo-db: a compendium of human de novo variants.Reprogramming human fibroblasts to neurons by recapitulating an essential microRNA-chromatin switch.De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.The next-generation sequencing revolution and its impact on genomics.Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders.Genomic approaches for studying craniofacial disorders.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology: New and Renascent Themes.Stem cells for amyotrophic lateral sclerosis modeling and therapy: myth or fact?The role of de novo mutations in the development of amyotrophic lateral sclerosis.ALS: Recent Developments from Genetics Studies.Mechanisms regulating dendritic arbor patterning.
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Exome sequencing to identify de novo mutations in sporadic ALS trios
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 26 May 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Exome sequencing to identify de novo mutations in sporadic ALS trios
@en
Exome sequencing to identify de novo mutations in sporadic ALS trios.
@nl
type
label
Exome sequencing to identify de novo mutations in sporadic ALS trios
@en
Exome sequencing to identify de novo mutations in sporadic ALS trios.
@nl
prefLabel
Exome sequencing to identify de novo mutations in sporadic ALS trios
@en
Exome sequencing to identify de novo mutations in sporadic ALS trios.
@nl
P2093
P2860
P50
P356
P1433
P1476
Exome sequencing to identify de novo mutations in sporadic ALS trios
@en
P2093
Aaron D Gitler
Alessandra Chesi
Alya R Raphael
Ana Jovičić
Brett T Staahl
Crystal Kelly
Garth A Nicholson
Gerald R Crabtree
Jonathan D Glass
Laura Elias
P2860
P2888
P304
P356
10.1038/NN.3412
P407
P577
2013-05-26T00:00:00Z