Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Characterization of detergent-insoluble proteins in ALS indicates a causal link between nitrative stress and aggregation in pathogenesis.
PMID 19956584 · PMC2780298 · PloS one · 2009 · 8 claims · 8 setups
The Triton X-100-insoluble fraction (TIF) from spinal cord of G93A SOD1 mice is enriched in specific proteins (cytoskeletal, chaperone, mitochondrial, metabolic, signaling) compared to WT mice, already at a preclinical stage.
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Has reproduction · 44
Weighted gene co-expression network analysis reveals that CXCL10, IRF7, MX1, RSAD2, and STAT1 are related to the chronic stage of spinal cord injury.
PMID 34532385 · PMC8421925 · Annals of translational medicine · 2021 · 8 claims · 7 setups
The brown co-expression module (775 genes) is the module most significantly associated with the chronic stage of SCI
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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups
SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4
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Has reproduction · 37
RNA Editing Alterations Define Disease Manifestations in the Progression of Experimental Autoimmune Encephalomyelitis (EAE).
PMID 36429012 · PMC9688714 · Cells · 2022 · 6 claims · 7 setups
RNA-editing events mediated by APOBEC and ADAR deaminases are significantly reduced throughout the course of EAE disease progression.
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Has reproduction · 100
Gene co-expression network analysis in human spinal cord highlights mechanisms underlying amyotrophic lateral sclerosis susceptibility.
PMID 33707641 · PMC7970949 · Scientific reports · 2021 · 8 claims · 8 setups
WGCNA on control human cervical spinal cord RNA-seq identifies 13 co-expression modules (SC.M1-M13), each representing distinct biological processes or cell types.
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Has reproduction · 67
The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases.
PMID 28930663 · PMC5719893 · Immunity · 2017 · 8 claims · 8 setups
A common APOE-dependent microglial molecular signature (MGnD) — loss of homeostatic genes plus induction of inflammatory genes with Apoe among the most upregulated — occurs in ALS, MS and AD mouse models and around neuritic Aβ-plaques in human AD brain.
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Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups
A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination
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Genome-wide microRNA profiling in human fetal nervous tissues by oligonucleotide microarray.
PMID 16983573 · PMC1705512 · Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2006 · 8 claims · 5 setups
72-83% of assayed miRNAs are expressed across human fetal organs, with G24w cerebrum showing the most miRNAs expressed
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Has reproduction · 26
Integrating transcriptomic datasets across neurological disease identifies unique myeloid subpopulations driving disease-specific signatures.
PMID 36527260 · PMC10952672 · Glia · 2023 · 6 claims · 3 setups
The bulk microglial and monocyte transcriptomic program is highly contingent on the disease environment, challenging the notion of a universal microglial disease signature
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Has reproduction · 84
Reactive astrocytes acquire neuroprotective as well as deleterious signatures in response to Tau and Aß pathology.
PMID 35013236 · PMC8748982 · Nature communications · 2022 · 8 claims · 8 setups
Aβ (APP/PS1) and Tau (MAPT P301S) pathology induce distinct but overlapping astrocyte translatome signatures
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Applying proteomics to the diagnosis and treatment of ALS and related diseases.
PMID 19670321 · PMC2836583 · Muscle & nerve · 2009 · 8 claims · 8 setups
Protein-based biomarkers for ALS/MND require further verification and large-scale validation/qualification studies, including disease mimics, before clinical use
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Has reproduction · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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Has reproduction · 69
Bioinformatics and system biology approaches to identify pathophysiological impact of COVID-19 to the progression and severity of neurological diseases.
PMID 34601390 · PMC8483812 · Computers in biology and medicine · 2021 · 8 claims · 8 setups
COVID-19 and neurological diseases (NDs) share pathophysiological connections that influence disease progression and severity
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Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
PMID 17100996 · PMC2714973 · Clinical genetics · 2006 · 6 claims · 6 setups
RSK2(RPS6KA3) mutations can present with a mild or atypical Coffin-Lowry phenotype overlapping clinically with nonsyndromic X-linked mental retardation
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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups
Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C
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Has reproduction · 88
Enteroendocrine cell lineages that differentially control feeding and gut motility.
PMID 36810133 · PMC10032656 · eLife · 2023 · 6 claims · 8 setups
Vil1-p2a-FlpO knock-in mice combined with lineage-specific Cre lines enable highly selective intersectional genetic access to major enteroendocrine cell lineages (serotonin/enterochromaffin, GLP1, CCK, somatostatin, GIP) in vivo
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Has reproduction · 71
Developing a novel immune infiltration-associated mitophagy prediction model for amyotrophic lateral sclerosis using bioinformatics strategies.
PMID 38601155 · PMC11005030 · Frontiers in immunology · 2024 · 7 claims · 6 setups
An 18-gene mitophagy-related prognostic signature was identified by machine learning and used to build a prognostic risk score model for ALS.
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Has reproduction · 59
The motor neuron m6A repertoire governs neuronal homeostasis and FTO inhibition mitigates ALS symptom manifestation.
PMID 40307231 · PMC12043976 · Nature communications · 2025 · 8 claims · 8 setups
m6A hypomethylation (not hypermethylation) is consistently associated with ALS across patient iPSC-MNs, postmortem tissue, and independent transcriptomic datasets
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Genetics of osteoarticular disorders, Florence, Italy, 22-23 February 2002.
PMID 12223106 · PMC128940 · Arthritis research · 2002 · 8 claims · 8 setups
OP and OA are common, polygenic, multifactorial quantitative disorders influenced by both low-penetrance genetic variants and environmental factors
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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups
No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.