Associated Papers
TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.
Pir GJ et al.
The Febs Journal, 2026
The TDP-43I383V heterozygous mutation results in increased TDP-43 expression and altered neuronal activity in ALS patient-derived iPSC motor neurons.
Chikuchi R et al.
Neuroscience Research, 2026
Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.
Khurana S et al.
Brain Communications, 2026
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
DNA damage response defects induced by the formation of TDP-43 and mutant FUS cytoplasmic inclusions and their pharmacological rescue.
Modafferi S et al.
Cell Death and Differentiation, 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
TRAF6 regulates ubiquitination-independent TDP-43 condensation and related neurodegeneration.
Guo S et al.
Molecular Psychiatry, 2025
Loss of Nuclear TDP-43 Impairs Lipid Metabolism in Microglia-Like Cells.
Kabra K et al.
Biorxiv : the Preprint Server for Biology, 2025
TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model.
Mori H et al.
Neurobiology of Disease, 2025
A Longitudinal Study of Sex Differences in a TDP-43 Mouse Model Reveals STI1 Regulation of TDP-43 Proteinopathy and Motor Deficits.
Novikov V et al.
Journal of Neurochemistry, 2025
TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects.
Jih KY et al.
Journal of the Neurological Sciences, 2025
Genetic Basis of Motor Neuron Diseases: Insights, Clinical Management, and Future Directions.
Antonakoudis A et al.
International Journal of Molecular Sciences, 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 2025
Scouring the human Hsp70 network uncovers diverse chaperone safeguards buffering TDP-43 toxicity.
Barbieri EM et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Research Square, 2025
Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations.
Piga G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.
Balendra R et al.
The Lancet. Neurology, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
Pottier C et al.
Nature Communications, 2025
Comprehensive mapping of mutations in TDP-43 and α-Synuclein that affect stability and binding.
Alamri SH et al.
Journal of Biomolecular Structure & Dynamics, 2025
SUMO2/3 conjugation of TDP-43 protects against aggregation.
Verde EM et al.
Science Advances, 2025
Clinical characteristics of semantic variant of primary progressive aphasia with TDP-43- and tau-related gene variants.
Ma Y et al.
Journal of Alzheimer's Disease : Jad, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Proteome Aggregation in Cells Derived from Amyotrophic Lateral Sclerosis Patients for Personalized Drug Evaluation.
Pérez de la Lastra Aranda C et al.
Acs Chemical Neuroscience, 2024
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 2024
Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant.
Moglia C et al.
Neurology, 2024
Drug Screening and Validation Targeting TDP-43 Proteinopathy for Amyotrophic Lateral Sclerosis.
Xin J et al.
Aging and Disease, 2024
Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant.
Pressman PS et al.
Neurocase, 2024
Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.
Li Y et al.
Journal of Alzheimer's Disease : Jad, 2024
Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum.
Shen T et al.
Translational Neurodegeneration, 2023
Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.
Lombardi M et al.
Genes, 2023
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum.
Shen T et al.
Research Square, 2023
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Henden L et al.
Science Advances, 2023
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Lattante S et al.
European Journal of Neurology, 2023
Shapeshifter TDP-43: Molecular mechanism of structural polymorphism, aggregation, phase separation and their modulators.
Doke AA et al.
Biophysical Chemistry, 2023
Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort.
Mathioudakis L et al.
Neurobiology of Aging, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study.
Santamaría-García H et al.
Bmc Neurology, 2022
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022