Fibroblasts from patients with amyotrophic lateral sclerosis (ALS) associated with mutations in tardbp gene as model of TDP-43 proteinopathy [PDF]
, 2015 Channa Hewamadduma +3 more
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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy [PDF]
, 2019 Han-Jou Chen +10 more
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Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study
Scientific ReportsAmyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness.
Ellie Mitsi +8 more
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Eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3; PERK); TAR DNA binding protein 43 (TDP-43; TARDBP) [PDF]
, 2014 openalex +1 more source
Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons [PDF]
, 2023 Sarah Lépine +10 more
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia [PDF]
, 2016 De Belleroche, JS
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Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program. [PDF]
J NeurolSchmitt P +27 more
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TARDBP mutations implicated in the pathogenesis of ALS [PDF]
Nature Clinical Practice Neurology, 2008 openaire +1 more source
Publisher Correction: Regulation of the Hepatitis B virus replication and gene expression by the multi-functional protein TARDBP [PDF]
, 2020 Grace Naswa Makokha +11 more
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