ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.
about
Computational and functional characterization of Angiogenin mutations, and correlation with amyotrophic lateral sclerosisCopper Homeostasis as a Therapeutic Target in Amyotrophic Lateral Sclerosis with SOD1 MutationsThe Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative MedicineTDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.A meta-analysis of observational studies of the association between chronic occupational exposure to lead and amyotrophic lateral sclerosisScreening of Drugs Inhibiting In vitro Oligomerization of Cu/Zn-Superoxide Dismutase with a Mutation Causing Amyotrophic Lateral SclerosisA novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.Parsing Disease-relevant Protein Modifications from Epiphenomena: Perspective on the Structural Basis of SOD1-Mediated ALS.Genetic testing in ALS: A survey of current practices.An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALSDevelopment of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD).High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UKWhole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortTargeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.The epidemiology of ALS: a conspiracy of genes, environment and time.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypesQuantifying disease progression in amyotrophic lateral sclerosis.Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.SOD1 oxidation and formation of soluble aggregates in yeast: relevance to sporadic ALS development.Genotype-property patient-phenotype relations suggest that proteome exhaustion can cause amyotrophic lateral sclerosis.Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents.Role of the Sigma-1 receptor in Amyotrophic Lateral Sclerosis (ALS)The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practiceAn indicator cell assay for blood-based diagnostics.Neurocarta: aggregating and sharing disease-gene relations for the neurosciences.Distinct oxidative cleavage and modification of bovine [Cu- Zn]-SOD by an ascorbic acid/Cu(II) system: Identification of novel copper binding site on SOD moleculeDelineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.Immunochemical characterization on pathological oligomers of mutant Cu/Zn-superoxide dismutase in amyotrophic lateral sclerosis.Astrocytes expressing mutant SOD1 and TDP43 trigger motoneuron death that is mediated via sodium channels and nitroxidative stress.ATXN2 trinucleotide repeat length correlates with risk of ALS.Amyotrophic lateral sclerosis: Problems and prospects.An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis.Challenges in the Understanding and Treatment of Amyotrophic Lateral Sclerosis/Motor Neuron Disease.Human genotype-phenotype databases: aims, challenges and opportunities.
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ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
ALSoD: A user-friendly online ...... ic lateral sclerosis genetics.
@en
ALSoD: A user-friendly online ...... ic lateral sclerosis genetics.
@nl
type
label
ALSoD: A user-friendly online ...... ic lateral sclerosis genetics.
@en
ALSoD: A user-friendly online ...... ic lateral sclerosis genetics.
@nl
prefLabel
ALSoD: A user-friendly online ...... ic lateral sclerosis genetics.
@en
ALSoD: A user-friendly online ...... ic lateral sclerosis genetics.
@nl
P2860
P356
P1433
P1476
ALSoD: A user-friendly online ...... ic lateral sclerosis genetics.
@en
P2093
John F Powell
Olubunmi Abel
P2860
P304
P356
10.1002/HUMU.22157
P577
2012-07-16T00:00:00Z