Results 91 to 100 of about 55,263 (257)

CRISPR mediated targeting of DUX4 distal regulatory element represses DUX4 target genes dysregulated in Facioscapulohumeral muscular dystrophy

Scientific Reports, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscle disease that currently does not have an effective cure or therapy. The abnormal reactivation of DUX4, an embryonic gene that is epigenetically silenced in somatic tissues, is causal ...
Sunny Das, B. Chadwick
semanticscholar   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 310-323, February 2026.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

A Comment on “Muscle Xenografts Reproduce Key Molecular Features of Facioscapulohumeral Muscular Dystrophy”: What Is New and What Has Already been Done and Reported but Was Not Quoted?

Cell Transplantation, 2020
A study was recently published that sought to develop an in vivo model of facioscapulohumeral muscular dystrophy by transplanting muscle precursor cells from a patient into immunodeficient mice.
Daniel Skuk, Jacques P Tremblay
doaj   +1 more source

Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy

Otolaryngology Case Reports, 2022
Background: Facioscapulohumeral muscular dystrophy (FSHD) is the one of the most common types of muscular dystrophy. We present a retrospective case description of a patient with late-onset, atypical FSHD and provide an overview of the clinical history ...
Nneoma S. Wamkpah, John J. Chi
doaj   +1 more source

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry [PDF]

, 2016
Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies.
Evangelista, T, Fernandez-Torron, R, Guglieri, M, Hilton-Jones, D, Hudson, J, Lochmüller, H, Lunt, P, Norwood, F, Orrell, R, Rafferty, K, Smith, D, Williams, M, Willis, T, Wood, L   +13 more
core   +1 more source

A 5‐year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials

Muscle and Nerve
The number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over the relatively short time span of
J. Kools, S. Vincenten, B. V. van Engelen, N. Voet, I. Merkies, C. Horlings, N. Voermans, K. Mul   +7 more
semanticscholar   +1 more source

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background The diagnosis of inclusion body myositis (IBM) can be delayed because of its heterogeneous clinical presentation and the lack of specific biomarkers. Muscle imaging has gained increasing relevance over the past decade and is now included among the supportive criteria in the international diagnostic guidelines.
Eleonora Torchia, Matteo Lucchini, José Verdu‐Diaz, Sara Bortolani, Beatrice Ravera, Vincenzo Carlomagno, Alessandra Cicia, Daniela Bernardo, Mauro Monforte, Robert Rehmann, Rudolf Andre Kley, Mario Sabatelli, Jordi Díaz‐Manera, Enzo Ricci, Massimiliano Mirabella, Giorgio Tasca   +15 more
wiley   +1 more source

Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD

Molecular Therapy: Methods & Clinical Development, 2018
RNAi emerged as a prospective molecular therapy nearly 15 years ago. Since then, two major RNAi platforms have been under development: oligonucleotides and gene therapy.
Lindsay M. Wallace, Nizar Y. Saad, Nettie K. Pyne, Allison M. Fowler, Jocelyn O. Eidahl, Jacqueline S. Domire, Danielle A. Griffin, Adam C. Herman, Zarife Sahenk, Louise R. Rodino-Klapac, Scott Q. Harper   +10 more
doaj   +1 more source

Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy

Journal of Neuromuscular Diseases, 2021
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies in adults, displaying a progressive, frequently asymmetric involvement of a typical muscles’ pattern.
M. Gros, A. Nunes, D. Daoudlarian, Jonathan Pini, E. Martinuzzi, Susana Barbosa, Monique Ramirez, A. Puma, L. Villa, M. Cavalli, N. Grecu, Jérémy Garcia, G. Siciliano, G. Solé, R. Juntas-Morales, Peter L Jones, T. Jones, N. Glaichenhaus, S. Sacconi   +18 more
semanticscholar   +1 more source

Progress in RNA‐Targeted Therapeutics for Human Diseases

MedComm, Volume 7, Issue 2, February 2026.
RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang, Aimin Jiang, Bin‐Kui Jia, Yuming Jin, Yinghu Chen, Zhaoyu Li, Yan Liao, Haoling Zhang, Zhiheng Lin, Xiao Fang, Linhui Wang   +10 more
wiley   +1 more source