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Articles by De Bleecker
Should taurine be pursued further as a supportive nutraceutical for Duchenne muscular dystrophy? Gathering evidence in a zebrafish disease model to confirm or refute the benefits - Stage 1 Report
Abstract Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder characterized by progressive muscle degeneration resulting in severe muscle weakness and motor function loss. Historically, therapeutic innovation has been facilitated by research in the mdx mouse, which is the most commonly used model for studying DMD. However, the inherent limitations of this model necessitate the formulation of alternative strategies.
Long-Term Safety and Efficacy of Nipocalimab in Generalized Myasthenia Gravis: Vivacity-MG3 Open-Label Extension Phase Results
1. Immunotherapy and Apheresis Unit, Neuroimmunology and Muscle Pathology Unit, Multiple Sclerosis Center, IRCCS Neurological Institute Foundation C. Besta, Milan, Italy, Milan, Italy 2. 2Department of Neurology, University of South Florida, Morsani College of Medicine, Tampa, FL, USA, Tampa, United States 3. Department of Neurology, Yale University, Yale School of Medicine, New Haven, CT, USA, New Haven, United States 4.
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Information & Authors Published In Neurology® Genetics Volume 11 • Number 4 • August 2025 Publication History Received: November 26, 2024 Accepted: May 20, 2025 Published online: July 16, 2025 Published in issue: August 2025 Permissions Request permissions for this article. Data Availability Data are available from the corresponding author upon reasonable request. Disclosure The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.
Myopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way
While neuropathological and genetic studies have established the crucial involvement of TDP-43 proteinopathy in the pathogenesis of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and related neurodegenerative disorders, multiple studies have described the presence of TDP-43 inclusions in muscular disorders, including inclusion body myositis but also other related rimmed vacuole myopathies.
Myopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way
While neuropathological and genetic studies have established the crucial involvement of TDP-43 proteinopathy in the pathogenesis of ALS (Amyotrophic Lateral Sclerosis), FTD (Frontotemporal Dementia) and related neurodegenerative disorders, multiple studies have described the presence of TDP-43 inclusions in muscular disorders, including inclusion body myositis but also other related rimmed vacuole myopathies.
Brain Sciences | Free Full-Text | Retrospective Study Shows That Serum Levels of Chemokine CXCL10 and Cytokine GDF15 Support a Diagnosis of Sporadic Inclusion Body Myositis and Immune-Mediated Necrotizing Myopathy
1. Introduction The idiopathic inflammatory myopathies (IIMs) represent a heterogeneous group of distinct autoimmune conditions jointly termed myositis. Subclassification of patients is a necessary effort to develop appropriate disease management and for disease prognosis. Methodologies have been developed for accurate classification, yet they continue to evolve, and debate persists over definitions and validation of diagnostic criteria.
Frontiers | Long-Term Safety, Tolerability, and Efficacy of Efgartigimod (ADAPT+): Interim Results From a Phase 3 Open-Label Extension Study in Participants With Generalized Myasthenia Gravis
Keywords: efgartigimod, Myasthenia Gravis, neonatal Fc receptor, FcRn, IgG recycling, Antibody fragment, autoantibody reduction, neonatal Fc receptor antagonist © 2023 Howard, Bril, Vu, Karam, Peric, De Bleecker, Murai, Meisel, Beydoun, Pasnoor, Guglietta, Van Hoorick, Steeland, T'joen, Utsugisawa, Verschuuren and Mantegazza. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
Acta Neuropathologica, Mar 2023 This is a preview of a remote PDF: https://link.springer.com/content/pdf/10.1007/s00401-023-02565-1.pdf Ervilha Pereira, Pedro, Schuermans, Nika, Meylemans, Antoon, LeBlanc, Pontus, Versluys, Lauren, Copley, Katie E., Rubien, Jack D., Altheimer, Christopher, Peetermans, Myra, Debackere, Elke, Vanakker, Olivier, Janssens, Sandra, Baets, Jonathan, Verhoeven, Kristof, Lammens, Martin, Symoens, Sofie, De Paepe, Boel, Barmada, Sami J., Shorter, James, De Bleecker,...
Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions
Introduction A broad spectrum of neurodegenerative conditions belongs to the class of TDP-43 proteinopathies. In all these conditions, TDP-43 is the main protein found in inclusions in the brain therefore linking all these diseases to this common pathological category. TDP-43 proteinopathy is found in ALS, FTD, Alzheimer’s disease (AD), and limbic-predominant age-related TDP-43 encephalopathy (LATE) (Nelson et al., 2019; Prasad et al., 2019).
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