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Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1007/s00401-019-01964-7openalex-snapshot
Disrupted neuronal trafficking in amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1007/s12035-017-0392-yopenalex-snapshot
Impairments in Motor Neurons, Interneurons and Astrocytes Contribute to Hyperexcitability in ALS: Underlying Mechanisms and Paths to Therapy
inferredcites →https://doi.org/10.1016/j.cell.2019.05.031openalex-snapshot
Comprehensive Integration of Single-Cell Data
inferredcites →https://doi.org/10.1016/j.celrep.2018.02.003openalex-snapshot
Massively Parallel Single Nucleus Transcriptional Profiling Defines Spinal Cord Neurons and Their Activity during Behavior
inferredcites →https://doi.org/10.1016/j.cels.2015.12.004openalex-snapshot
The Molecular Signatures Database Hallmark Gene Set Collection
inferredcites →https://doi.org/10.1016/j.neurobiolaging.2014.01.016openalex-snapshot
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
inferredcites →https://doi.org/10.1016/j.neuron.2011.09.010openalex-snapshot
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
inferredcites →https://doi.org/10.1016/j.neuron.2013.10.015openalex-snapshot
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
inferredcites →https://doi.org/10.1016/j.neuron.2018.02.027openalex-snapshot
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
inferredcites →https://doi.org/10.1016/j.tig.2018.03.001openalex-snapshot
ALS Genes in the Genomic Era and their Implications for FTD
inferredcites →https://doi.org/10.1038/nature24277openalex-snapshot
Genetic effects on gene expression across human tissues
inferredcites →https://doi.org/10.1038/nbt.4096openalex-snapshot
Integrating single-cell transcriptomic data across different conditions, technologies, and species
inferredcites →https://doi.org/10.1038/ncomms12408openalex-snapshot
Projected increase in amyotrophic lateral sclerosis from 2015 to 2040
inferredcites →https://doi.org/10.1038/ng.3538openalex-snapshot
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
inferredcites →https://doi.org/10.1038/ng.3622openalex-snapshot
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1038/ng.3643openalex-snapshot
A reference panel of 64,976 haplotypes for genotype imputation
inferredcites →https://doi.org/10.1038/ng.3656openalex-snapshot
Next-generation genotype imputation service and methods
inferredcites →https://doi.org/10.1038/nmeth.4407openalex-snapshot
Massively parallel single-nucleus RNA-seq with DroNc-seq
inferredcites →https://doi.org/10.1038/nn.4399openalex-snapshot
Gene expression elucidates functional impact of polygenic risk for schizophrenia
inferredcites →https://doi.org/10.1038/nn.4632openalex-snapshot
An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome
inferredcites →https://doi.org/10.1038/nrn1624openalex-snapshot
Molecular motors and mechanisms of directional transport in neurons
inferredcites →https://doi.org/10.1038/s41467-018-04558-1openalex-snapshot
Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood
inferredcites →https://doi.org/10.1038/s41586-019-1506-7openalex-snapshot
Conserved cell types with divergent features in human versus mouse cortex
inferredcites →https://doi.org/10.1038/s41588-018-0129-5openalex-snapshot
Genetic identification of brain cell types underlying schizophrenia
inferredcites →https://doi.org/10.1038/s41588-021-00913-zopenalex-snapshot
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
inferredcites →https://doi.org/10.1038/s41593-017-0047-3openalex-snapshot
TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD
inferredcites →https://doi.org/10.1038/s41598-017-17322-0openalex-snapshot
Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging
inferredcites →https://doi.org/10.1038/s42003-020-01251-2openalex-snapshot
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1073/pnas.0506580102openalex-snapshot
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
inferredcites →https://doi.org/10.1073/pnas.1607496113openalex-snapshot
Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism
inferredcites →https://doi.org/10.1073/pnas.1801109115openalex-snapshot
Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1073/pnas.1907982116openalex-snapshot
Accelerated evolution of oligodendrocytes in the human brain
inferredcites →https://doi.org/10.1080/15548627.2018.1432327openalex-snapshot
Unraveling the role of motoneuron autophagy in ALS
inferredcites →https://doi.org/10.1080/15548627.2019.1569441openalex-snapshot
The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy
inferredcites →https://doi.org/10.1080/21678421.2021.1949021openalex-snapshot
Prevalence of amyotrophic lateral sclerosis (ALS), United States, 2016
inferredcites →https://doi.org/10.1086/519795openalex-snapshot
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
inferredcites →https://doi.org/10.1093/bioinformatics/btq064openalex-snapshot
GOSemSim: an R package for measuring semantic similarity among GO terms and gene products
inferredcites →https://doi.org/10.1093/bioinformatics/btr260openalex-snapshot
Molecular signatures database (MSigDB) 3.0
inferredcites →https://doi.org/10.1093/bioinformatics/btu848openalex-snapshot
PRSice: Polygenic Risk Score software
inferredcites →https://doi.org/10.1093/database/baz036openalex-snapshot
Curating gene sets: challenges and opportunities for integrative analysis
inferredcites →https://doi.org/10.1093/nar/gkz369openalex-snapshot
g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update)
inferredcites →https://doi.org/10.1101/gr.155192.113openalex-snapshot
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
inferredcites →https://doi.org/10.1126/science.1262110openalex-snapshot
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
inferredcites →https://doi.org/10.1126/science.aaf1204openalex-snapshot
Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain
inferredcites →https://doi.org/10.1186/1471-2164-11-203openalex-snapshot
Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGFδ/δ mouse model of amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1186/s12859-015-0611-3openalex-snapshot
InteractiVenn: a web-based tool for the analysis of sets through Venn diagrams
inferredcites →https://doi.org/10.1186/s13059-019-1874-1openalex-snapshot
Normalization and variance stabilization of single-cell RNA-seq data using regularized negative binomial regression
inferredcites →https://doi.org/10.1371/journal.pcbi.1002375openalex-snapshot
Ten Years of Pathway Analysis: Current Approaches and Outstanding Challenges
inferredcites →https://doi.org/10.1371/journal.pgen.1000888openalex-snapshot
Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS
inferredcites →https://doi.org/10.1371/journal.pgen.1000952openalex-snapshot
Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain
inferredcites →https://doi.org/10.1371/journal.pgen.1003348openalex-snapshot
Power and Predictive Accuracy of Polygenic Risk Scores
inferredcites →https://doi.org/10.1371/journal.pone.0021800openalex-snapshot
REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms
inferredcites →https://doi.org/10.1523/jneurosci.0908-18.2018openalex-snapshot
C9orf72 Dipeptide Repeats Cause Selective Neurodegeneration and Cell-Autonomous Excitotoxicity in Drosophila Glutamatergic Neurons
inferredcites →https://doi.org/10.15585/mmwr.mm6707a3openalex-snapshot
Prevalence of Amyotrophic Lateral Sclerosis — United States, 2014
inferredcites →https://doi.org/10.15585/mmwr.mm6746a1openalex-snapshot
Prevalence of Amyotrophic Lateral Sclerosis — United States, 2015
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
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Mechanism-Free Repurposing of Drugs For C9orf72-related ALS/FTD Using Large-Scale Genomic Data
inferred← citeshttps://doi.org/10.2139/ssrn.4890101openalex-extracted
Mechanism-Free Repurposing of Drugs For C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
inferred← citeshttps://doi.org/10.1002/acn3.51934openalex-snapshot
Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China
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Aberrant Splicing Signatures Underpin Oligodendrocyte Damage in ALS and Neuron Loss in FTD
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Interpretation of Neurodegenerative GWAS Risk Alleles in Microglia and their Interplay with Other Cell Types
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Functional Genomics and Human Diseases
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Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs
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The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients
inferred← citeshttps://doi.org/10.1007/s40120-023-00548-8openalex-snapshot
Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit
inferred← citeshttps://doi.org/10.1007/s43657-024-00159-9openalex-snapshot
Amyotrophic Lateral Sclerosis and Risk of Common Cancer: Mendelian Randomization Interrogation of Causality and Mediation
inferred← citeshttps://doi.org/10.1016/b978-0-323-90120-8.00017-4openalex-snapshot
Cell and gene therapy for amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1016/b978-0-323-98817-9.00027-2openalex-snapshot
Novel therapeutic approaches for motor neuron disease
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From use of omics to systems biology: Identifying therapeutic targets for amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1016/j.arr.2023.102126openalex-snapshot
Genomic and transcriptomic advances in amyotrophic lateral sclerosis
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Emergent technologies and applications of TMS and TMS-EEG in clinical neurophysiology for early and differential diagnosis: IFCN handbook chapter
inferred← citeshttps://doi.org/10.1016/j.clinph.2025.2111487openalex-snapshot
Clinical utility and prospective of TMS–EEG: Updated review from an international expert group
inferred← citeshttps://doi.org/10.1016/j.ibneur.2021.12.002openalex-snapshot
Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1016/j.jgg.2025.05.008openalex-snapshot
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review
inferred← citeshttps://doi.org/10.1016/j.jns.2023.120753openalex-snapshot
Proteomic investigation of ALS motor cortex identifies known and novel pathogenetic mechanisms
inferred← citeshttps://doi.org/10.1016/j.lanwpc.2025.101684openalex-snapshot
Pan-Asian consortium for treatment and research in ALS (PACTALS) guidelines for management of amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1016/j.pneurobio.2022.102229openalex-snapshot
TDP-43 pathology: From noxious assembly to therapeutic removal
inferred← citeshttps://doi.org/10.1016/j.tins.2021.04.008openalex-snapshot
Non-cell-autonomous pathogenic mechanisms in amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1016/j.tins.2023.11.003openalex-snapshot
White matter injury across neurodegenerative disease
inferred← citeshttps://doi.org/10.1016/j.xgen.2024.100679openalex-snapshot
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
inferred← citeshttps://doi.org/10.1016/s0140-6736(22)01272-7openalex-snapshot
Amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1038/s41467-023-37630-6openalex-snapshot
Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology
inferred← citeshttps://doi.org/10.1038/s41576-023-00592-yopenalex-snapshot
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
inferred← citeshttps://doi.org/10.1038/s41588-021-00973-1openalex-snapshot
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
inferred← citeshttps://doi.org/10.1038/s41588-025-02467-wopenalex-snapshot
The polygenic, omnigenic and stratagenic models of complex disease risk
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The landscape of targets and lead molecules for remyelination
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A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1038/s41593-021-00923-4openalex-snapshot
Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology
inferred← citeshttps://doi.org/10.1038/s41593-022-01205-3openalex-snapshot
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
inferred← citeshttps://doi.org/10.1038/s42003-022-04020-5openalex-snapshot
SoloTE for improved analysis of transposable elements in single-cell RNA-Seq data using locus-specific expression
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A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS
inferred← citeshttps://doi.org/10.1038/s42003-025-08561-3openalex-snapshot
Network spreading and local biological vulnerability in amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1038/s43587-024-00640-0openalex-snapshot
Single-nucleus sequencing reveals enriched expression of genetic risk factors in extratelencephalic neurons sensitive to degeneration in ALS
inferred← citeshttps://doi.org/10.1073/pnas.2419818122openalex-snapshot
pTDP-43 levels correlate with cell type–specific molecular alterations in the prefrontal cortex of C9orf72 ALS/FTD patients
inferred← citeshttps://doi.org/10.1080/07391102.2024.2439577openalex-snapshot
Investigating the impact of SOD1 mutations on amyotrophic lateral sclerosis progression and potential drug repurposing through in silico analysis
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The role of ATG16L2 in autophagy and disease
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How do we get from hyperexcitability to excitotoxicity in amyotrophic lateral sclerosis?
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Direct interrogation of cortical interneuron circuits in amyotrophic lateral sclerosis
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The interneuron hypothesis of amyotrophic lateral sclerosis
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SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed
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An integrative miRNA-mRNA expression analysis identifies miRNA signatures associated with SOD1 and TARDBP patient-derived motor neurons
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Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease
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Optimal Therapeutic Strategy of Bone Marrow-Originated Autologous Mesenchymal Stromal/Stem Cells for ALS
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Update on genetics of amyotrophic lateral sclerosis
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Abnormal energy metabolism in ALS: a key player?
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LAG3 is not expressed in human and murine neurons and does not modulate α-synucleinopathies
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Enrichment analysis of GWAS data in autoimmunity delineates the multiple sclerosis-Epstein Barr virus association
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Loss of nucleoporin Nup50 is a risk factor for amyotrophic lateral sclerosis
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Inflammatory Bowel Disease and Neurodegenerative Disorders: Integrated Evidence from Mendelian Randomization, Shared Genetic Architecture and Transcriptomics
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Montelukast improves disease outcome in SOD1G93A female mice by counteracting oligodendrocyte dysfunction and aberrant glial reactivity
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Protein Biomarkers in Risk and Prognosis of Amyotrophic Lateral Sclerosis
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3′ UTR variants of ALS ‐linked RNAs modify subcellular and cellular phenotypes
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Bringing cellular clarity to the cortical component of ALS with a high‐density multi‐electrode array system
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Association of a common genetic variant with Parkinson’s disease is mediated by microglia
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
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Genetic analysis of neurodegenerative diseases
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Genetic Variation of Human Long-Chain Fatty Acyl-CoA Synthetase and Nutritional Implication
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Advances in sequencing technologies for amyotrophic lateral sclerosis research
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Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
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What Is the Role of Oligodendrocytes in Amyotrophic Lateral Sclerosis?
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Deciphering cell type-specific causal genetic effects on brain imaging-derived phenotypes and disorders with single-cell Mendelian randomization
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Investigating Causality and Shared Genetic Architecture between Neurodegenerative Disorders and Inflammatory Bowel Disease
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LAG3 is not expressed in human and murine neurons and does not modulate α‐synucleinopathies
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Amyotrophic Lateral Sclerosis Risk Genes and Suppressor
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Receptor for Advanced Glycation End Products in Neuronal Pathophysiology
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Causal Inference of Genetic Variants and Genes in Amyotrophic Lateral Sclerosis
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Modeling ALS in a dish: how organoids are transforming research
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Biochemical parameters as a tool to assess the nutritional status of patients with amyotrophic lateral sclerosis
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Polygenic Score Models for Alzheimer’s Disease: From Research to Clinical Applications
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Contribution of RNA/DNA Binding Protein Dysfunction in Oligodendrocytes in the Pathogenesis of the Amyotrophic Lateral Sclerosis/Frontotemporal Lobar Degeneration Spectrum Diseases
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An update on the therapeutic implications of long-chain acyl-coenzyme A synthetases in nervous system diseases
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MicroRNA Alterations in Chronic Traumatic Encephalopathy and Amyotrophic Lateral Sclerosis
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Oligodendrocyte Dysfunction in Amyotrophic Lateral Sclerosis: Mechanisms and Therapeutic Perspectives
inferred← citeshttps://doi.org/10.3390/cells10051030openalex-snapshot
Genetic and Transcriptomic Biomarkers in Neurodegenerative Diseases: Current Situation and the Road Ahead
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Amyotrophic Lateral Sclerosis (ALS): Stressed by Dysfunctional Mitochondria-Endoplasmic Reticulum Contacts (MERCs)
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Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing
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Genetic Mapping of Behavioral Traits Using the Collaborative Cross Resource
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In Silico Exploration of Metabolically Active Peptides as Potential Therapeutic Agents against Amyotrophic Lateral Sclerosis
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Development of Emerin mRNA Lipid Nanoparticles to Rescue Myogenic Differentiation
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Genome-Wide Gene-Set Analysis Approaches in Amyotrophic Lateral Sclerosis
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Harmine and 7,8-dihydroxyflavone synergistically suitable for amyotrophic lateral sclerosis management: An in silico study
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SCFD1 in amyotrophic lateral sclerosis: reconciling a genetic association with in vivo functional analysis
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Neuronal guidance signaling in neurodegenerative diseases: Key regulators that function at neuron-glia and neuroimmune interfaces
inferred← citeshttps://doi.org/10.64898/2026.02.06.26345684openalex-snapshot
Wild-type C9orf72 expression is a genetic modifier of C9-ALS survival
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Carotenoid assembly regulates quinone diffusion and the Roseiflexus castenholzii reaction center-light harvesting complex architecture
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Analysis of SOD1 and C9orf72 mutations in patients with amyotrophic lateral sclerosis in Antioquia, Colombia
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