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Decoding ALS: from genes to mechanism.
scientific article published on 9 November 2016
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instance of
scholarly article
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Europe PubMed Central
PMC publication ID
5585017
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
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27 March 2020
review article
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Europe PubMed Central
title
Decoding ALS: from genes to mechanism
(English)
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Europe PubMed Central
PMC publication ID
5585017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
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27 March 2020
main subject
amyotrophic lateral sclerosis
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inferred from title
author
J Paul Taylor
series ordinal
1
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Europe PubMed Central
PMC publication ID
5585017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
Don W. Cleveland
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3
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Europe PubMed Central
PMC publication ID
5585017
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
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27 March 2020
author name string
Robert H Brown
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2
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Europe PubMed Central
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5585017
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
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27 March 2020
language of work or name
English
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publication date
1 November 2016
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27 March 2020
published in
Nature
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Europe PubMed Central
PMC publication ID
5585017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
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27 March 2020
volume
539
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Europe PubMed Central
PMC publication ID
5585017
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27 March 2020
issue
7628
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Europe PubMed Central
PMC publication ID
5585017
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27 March 2020
page(s)
197-206
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5585017
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27 March 2020
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ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function
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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
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The role of muscle microRNAs in repairing the neuromuscular junction
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Microglia induce motor neuron death via the classical NF-κB pathway in amyotrophic lateral sclerosis
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17 June 2018
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
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17 June 2018
Necroptosis drives motor neuron death in models of both sporadic and familial ALS.
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17 June 2018
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations
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17 June 2018
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
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17 June 2018
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
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17 June 2018
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
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17 June 2018
Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.
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17 June 2018
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
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17 June 2018
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
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Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis.
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17 June 2018
Enhancing mitochondrial calcium buffering capacity reduces aggregation of misfolded SOD1 and motor neuron cell death without extending survival in mouse models of inherited amyotrophic lateral sclerosis
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17 June 2018
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
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17 June 2018
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
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17 June 2018
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
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17 June 2018
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs
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17 June 2018
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
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17 June 2018
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Oligodendroglia metabolically support axons and contribute to neurodegeneration.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
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17 June 2018
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Intermolecular transmission of superoxide dismutase 1 misfolding in living cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Non-ATG-initiated translation directed by microsatellite expansions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Exome sequencing reveals VCP mutations as a cause of familial ALS
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Mutations of optineurin in amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Repeat expansion disease: progress and puzzles in disease pathogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
MicroRNA-206 delays ALS progression and promotes regeneration of neuromuscular synapses in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
ALS motor phenotype heterogeneity, focality, and spread: deconstructing motor neuron degeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
The molecular links between TDP-43 dysfunction and neurodegeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
A switch in retrograde signaling from survival to stress in rapid-onset neurodegeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Focal transplantation-based astrocyte replacement is neuroprotective in a model of motor neuron disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
ALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Mutant SOD1 in cell types other than motor neurons and oligodendrocytes accelerates onset of disease in ALS mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
SOD1 mutations disrupt redox-sensitive Rac regulation of NADPH oxidase in a familial ALS model
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Non-cell autonomous effect of glia on motor neurons in an embryonic stem cell-based ALS model
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Wild-type microglia extend survival in PU.1 knockout mice with familial amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Dendritic protein synthesis, synaptic plasticity, and memory
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Onset and progression in inherited ALS determined by motor neurons and microglia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Focal dysfunction of the proteasome: a pathogenic factor in a mouse model of amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Selective loss of glial glutamate transporter GLT‐1 in amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Dynactin, a conserved, ubiquitously expressed component of an activator of vesicle motility mediated by cytoplasmic dynein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
17 June 2018
Unconventional secretion of misfolded proteins promotes adaptation to proteasome dysfunction in mammalian cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
C9orf72 is required for proper macrophage and microglial function in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
TDP-43 binds and transports G-quadruplex-containing mRNAs into neurites for local translation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Silencing mutant SOD1 using RNAi protects against neurodegeneration and extends survival in an ALS model
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Mutant dynactin in motor neuron disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
Proteasomal inhibition by misfolded mutant superoxide dismutase 1 induces selective motor neuron death in familial amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5585017
retrieved
21 August 2018
An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27830784
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27830784
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Toxic mutants in Charcot's sclerosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27830784
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27830784
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27830784
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Neurodegenerative diseases: G-quadruplex poses quadruple threat
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27830784
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
TDP43-positive intraneuronal inclusions in a patient with motor neuron disease and Parkinson's disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27830784
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNATURE20413
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNATURE20413
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NATURE20413
1 reference
stated in
Europe PubMed Central
PMC publication ID
5585017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
PMC publication ID
5585017
1 reference
stated in
Europe PubMed Central
PMC publication ID
5585017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
PubMed publication ID
27830784
1 reference
stated in
Europe PubMed Central
PMC publication ID
5585017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27830784%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
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