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Papers matching “TDP-43” 22

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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
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
TDP-43 loss induces cryptic polyadenylation in ALS/FTD
2025 Nature Neuroscience article Medicine Amyotrophic Lateral Sclerosis Research Open access

Sam Bryce-Smith, Anna‐Leigh Brown, Max Z. Y. J. Chien, Dario Dattilo, Puja R. Mehta, Francesca Mattedi, +88 more

37

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
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
2022 Nature article Medicine Amyotrophic Lateral Sclerosis Research Open access cited by 15 patents

Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, +89 more

561

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
TDP‐43 dysregulation and STMN‐2 mis‐splicing upon proteasomal inhibition in potential iPSC‐derived neuronal ALS model
2023 Alzheimer s & Dementia article Medicine Amyotrophic Lateral Sclerosis Research

Laila Ritsma, Malika Bsibsi, Abeera Popalzij, Sara Compte-Sancerni, Esther de Kraa, Dario Magnani, +4 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
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
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
Phylogenetic Analysis of NEAT1 and MALAT1 Long Non-Coding RNAs Highlights Structure–Function Relationships in Paraspeckle Biology
2025 Molecular Biology and Evolution article Biochemistry, Genetics and Molecular Biology Cancer-related molecular mechanisms research Open access

Ksenia Arkhipova, Micha Drukker

1

citations
Phylogenetic analysis of NEAT1 and MALAT1 long non-coding RNAs highlights structure-function relationships in paraspeckle biology
2025 Leiden Repository (Leiden University) article Biochemistry, Genetics and Molecular Biology Cancer-related molecular mechanisms research Open access

K. Arkhipova, M.E. Drukker

0

citations
Neuronal polyunsaturated fatty acids are protective in ALS/FTD
2025 Nature Neuroscience article Medicine Amyotrophic Lateral Sclerosis Research Open access

Ashling Giblin, Alexander J. Cammack, Niek Blomberg, Sharifah Anoar, Alla Mikheenko, Mireia Carcolé, +17 more

43

citations
Analysis of asymptomatic Drosophila models for ALS and SMA reveals convergent impact on functional protein complexes linked to neuro-muscular degeneration
2023 BMC Genomics article Medicine Amyotrophic Lateral Sclerosis Research Open access

Marina L. García‐Vaquero, M. Heim, Barbara Flix, Marcelo Henrique Neves Pereira, Lucile Palin, Tânia Monteiro Marques, +5 more

1

citations
Neutralization of pathogenic PC-OxPL by AAV-delivered scFv as a therapeutic strategy for amyotrophic lateral sclerosis
2026 Molecular Therapy Advances article Medicine Amyotrophic Lateral Sclerosis Research Open access

Andreia Gomes‐Duarte, Jamie K. Wong, Alessandro Moro, Svetlana Pasteuning-Vuhman, Wouter Pos, Rob Haselberg, +8 more

0

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
Loss of mouse Stmn2 function causes motor neuropathy
2022 Neuron article Medicine Amyotrophic Lateral Sclerosis Research Open access

Irune Guerra San Juan, Leslie A. Nash, Kevin S. Smith, Marcel F. Leyton-Jaimes, Menglu Qian, Joseph R. Klim, +12 more

79

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
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
2021 JCI Insight article Medicine Amyotrophic Lateral Sclerosis Research Open access

Danique Beijer, Hong Joo Kim, Lin E. Guo, Inès Mademan, Tine Deconinck, Kristof Van Schil, +19 more

74

citations
Novel Dual Mechanism GRT-X Agonist Acting on Kv7 Potassium Channel/Translocator Protein Receptor Prevents Motoneuron Degeneration Following Exposure to Mouse and Human Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Astrocyte-Conditioned Media
2025 ACS Chemical Neuroscience article Medicine Amyotrophic Lateral Sclerosis Research Open access

Vera M. Masegosa, Elsa Fritz, Daniela Corvalán, Fabiola Rojas, Polett Garcés, Xavier Navarro, +3 more

4

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
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

22 results