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Papers matching “TDP-43 pathology” 18

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From cryptic exons to neuronal dysfunction: combinatorial antisense makes sense in TAR DNA-binding protein-43 (TDP-43) pathology
2026 Signal Transduction and Targeted Therapy article Medicine Amyotrophic Lateral Sclerosis Research Open access

Gianluca Figlia, Juliane Bremer

0

citations
Investigational eIF2B activator DNL343 modulates the integrated stress response in preclinical models of TDP-43 pathology and individuals with ALS in a randomized clinical trial
2025 Nature Communications article Medicine Amyotrophic Lateral Sclerosis Research Open access

Seungyoon B. Yu, Melania H. Fanok, Wei Luan, Romeo D. Maciuca, Linus D. Sun, Richard M. Tsai, +34 more

23

citations
Mis-localization of endogenous TDP-43 leads to ALS-like early-stage metabolic dysfunction and progressive motor deficits
2024 Molecular Neurodegeneration article Medicine Amyotrophic Lateral Sclerosis Research Open access

Yiying Hu, Alexander Hruscha, Chenchen Pan, Martina Schifferer, Michael K. Schmidt, Brigitte Nuscher, +8 more

13

citations
Cross-seeding by prion protein inactivates TDP-43
2023 Brain article Biochemistry, Genetics and Molecular Biology Prion Diseases and Protein Misfolding Open access

Stella A. Polido, Cristiana Stuani, Aaron Voigt, Janine Kamps, Verian Bader, P.L. Grover, +7 more

15

citations
Herpes simplex virus infection promotes ALS pathology through ICP0-mediated PML body disruption
2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Amyotrophic Lateral Sclerosis Research Open access

Dennis Freisem, Daniel Rombach, Sarah J. Brockmann, Anne Fink, Zoé Engels, Aurora De Luna, +36 more

3

citations
Limbic Alzheimer’s co-pathology in multiple system atrophy is associated with cognitive impairment and diagnostic inaccuracy
2025 Acta Neuropathologica article Medicine Parkinson's Disease Mechanisms and Treatments Open access

Janna van Wetering, Natasja A. C. Deshayes, Inês Fernandes, Dagmar H. Hepp, Henk W. Berendse, Laura E. Jonkman, +2 more

2

citations
Cortical iron accumulation in MAPT ‐ and C9orf 72‐associated frontotemporal lobar degeneration
2023 Brain Pathology article Neuroscience Neurological diseases and metabolism Open access

Marjolein Bulk, Boyd Kenkhuis, Ana Rajicic, Shamiram Melhem, Ingrid M. Hegeman-Kleinn, Lucia Bossoni, +5 more

11

citations
Additional file 3 of A rare missense variant impacting NEK1 kinase function is associated with ALS
2026 Figshare other Medicine Amyotrophic Lateral Sclerosis Research Open access

Dávid Brenner, Anna Ponomarenko, Iris Petrut, Sofia Beyrle, Matilde Contardo, Isabel Loss, +25 more

0

citations
Additional file 3 of A rare missense variant impacting NEK1 kinase function is associated with ALS
2026 Figshare other Medicine Amyotrophic Lateral Sclerosis Research Open access

Dávid Brenner, Anna Ponomarenko, Iris Petrut, Sofia Beyrle, Matilde Contardo, Isabel Loss, +25 more

0

citations
What can we learn on ALS pathophysiology from iPSC-derived motor neurons harbouring TARBDP mutations: a systematic review
2026 Translational Neurodegeneration review Medicine Amyotrophic Lateral Sclerosis Research Open access

Elena Pasho, Alberto Catanese, Edor Kabashi, Sorana Ciura

1

citations
AAV-Delivered Anti-PC-OxPL Antibody Fragments: A Novel Therapeutic Approach to Target ALS
2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Amyotrophic Lateral Sclerosis Research

Andreia Gomes‐Duarte, Jamie K. Wong, Svetlana Pasteuning-Vuhman, Wouter Pos, Rob Haselberg, Marina Sogorb-González, +6 more

1

citations
Loss of PML nuclear bodies in familial amyotrophic lateral sclerosis-frontotemporal dementia
2023 Cell Death Discovery article Medicine Amyotrophic Lateral Sclerosis Research Open access

Francesco Antoniani, Marco Cimino, Laura Mediani, Jonathan Vinet, Enza Maria Verde, Valentina Secco, +8 more

17

citations
The Integrated Stress Response Is Modulated by eIF2B Agonist DNL343: Results From Phase 1 Healthy Subject and Phase 1b ALS Patient Studies. (P8-8.010)
2023 Neurology article Medicine Amyotrophic Lateral Sclerosis Research

Linus D. Sun, Richard M. Tsai, Ernie Yulyaningsih, Melania H. Fanok, Maurits F. J. M. Vissers, Jules A. A. C. Heuberger, +18 more

10

citations
A rare missense variant impacting NEK1 kinase function is associated with ALS
2026 Figshare supplementary-materials Medicine Amyotrophic Lateral Sclerosis Research Open access

Dávid Brenner, Anna Ponomarenko, Iris Petrut, Sofia Beyrle, Matilde Contardo, Isabel Loss, +25 more

0

citations
A rare missense variant impacting NEK1 kinase function is associated with ALS
2026 Figshare other Medicine Amyotrophic Lateral Sclerosis Research Open access

Dávid Brenner, Anna Ponomarenko, Iris Petrut, Sofia Beyrle, Matilde Contardo, Isabel Loss, +25 more

0

citations
Ex vivo T2*-weighted MRI and quantitative susceptibility mapping reflect spatial iron accumulation observed on histology in frontotemporal lobar degeneration
2026 Neurobiology of Disease article Medicine Advanced MRI Techniques and Applications Open access

Fieke Prinse, Elise G.P. Dopper, Marjolein Bulk, Ernst Suidgeest, Kyra L. Dijkstra, Renee van Buuren, +7 more

1

citations
MRI measures of neuropathology in neurodegenerative disease
2025 Alzheimer s & Dementia article Medicine Dementia and Cognitive Impairment Research Open access

Laura E. Jonkman, Niels Reijner, Maud M. A. Bouwman, Alex J. Wesseling, Natasja A. C. Deshayes, Chen‐Pei Lin, +6 more

0

citations
A rare missense variant impacting NEK1 kinase function is associated with ALS
2026 Acta Neuropathologica Communications article Medicine Amyotrophic Lateral Sclerosis Research Open access

Dávid Brenner, Anna Ponomarenko, Iris Petrut, Sofia Beyrle, Matilde Contardo, Isabel Loss, +25 more

1

citations

18 results