Results 31 to 40 of about 151 (87)

Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases

Frontiers in Physiology, 2021
A majority of patients with facioscapulohumeral muscular dystrophy (FSHD) report severe fatigue. The aim of this study was to explore whether fatigability during a performance task is related to the main clinical features of the disease in mildly ...
Matteo Beretta-Piccoli, Matteo Beretta-Piccoli, Massimo Negro, Luca Calanni, Angela Berardinelli, Gabriele Siciliano, Rossella Tupler, Emiliano Soldini, Corrado Cescon, Giuseppe D’Antona, Giuseppe D’Antona   +10 more
doaj   +1 more source

Development and Validation of a Deep Learning‐Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1096-1102, June 2026.
ABSTRACT Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disease that leads, among other manifestations, to facial weakness. This weakness can severely impact communication and quality of life, yet it remains under‐researched with limited objective clinical measures.
T. G. J. Loonen, T. C. ten Harkel, S. C. C. Vincenten, C. G. C. Horlings, C. H. G. Beurskens, S. Knuijt, G. W. A. M. Padberg, B. G. M. van Engelen, T. J. J. Maal, K. Mul   +9 more
wiley   +1 more source

Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

Frontiers in Neurology
ObjectiveFacioscapulohumeral muscular dystrophy type 1 (FSHD1) is one of the most common forms of autosomal-dominant muscular dystrophies characterized by variable disease penetrance due to shortened D4Z4 repeat units on 4q35.
Jieni Jiang, Jieni Jiang, Jieni Jiang, Xiaotang Cai, Xiaotang Cai, Haibo Qu, Haibo Qu, Qiang Yao, Qiang Yao, Tiantian He, Tiantian He, Tiantian He, Mei Yang, Mei Yang, Mei Yang, Hui Zhou, Hui Zhou, Xuemei Zhang, Xuemei Zhang, Xuemei Zhang   +19 more
doaj   +1 more source

Fertilization influences overyielding through dominance of species with high specific leaf area in young tree mixtures

Functional Ecology, Volume 40, Issue 6, Page 1755-1775, June 2026.
Read the free Plain Language Summary for this article on the Journal blog. Abstract In the context of anthropogenic eutrophication of the biosphere, understanding the impact of nutrient addition on plant diversity–productivity relationships remains a major challenge.
Dai F. Saito, Friderike Beyer, Grégoire T. Freschet, Anja Klingler, Charles A. Nock, Peter B. Reich, Michael Scherer‐Lorenzen, Jürgen Bauhus   +7 more
wiley   +1 more source

Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy

Frontiers in Cell and Developmental Biology, 2022
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on chromosome 4q35, and its transcriptome, associate with pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
Massimo Ganassi, Nicolas Figeac, Magalie Reynaud, Huascar Pedro Ortuste Quiroga, Peter S. Zammit   +4 more
doaj   +1 more source

Assessing D‐Squame as a Minimally Invasive Technique to Evaluate the Cutaneous Immune Response mRNA in a Dog Model of Canine Atopic Dermatitis

Veterinary Dermatology, Volume 37, Issue 3, Page 353-364, June 2026.
ABSTRACT Background Canine atopic dermatitis (cAD) is a multifactorial, inherited skin disease, estimated to affect ≤ 15% of dogs. Studies of skin messenger mRNA in cAD currently use invasive methods, including blood sampling and biopsy collection, whilst advances in human atopic dermatitis study methodology have demonstrated reliable use of minimally ...
Xavier Langon, Marion Mosca, Nadège Milhau, Mélanie Legain, Adrien Idée, Didier Pin   +5 more
wiley   +1 more source

Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

Molecular Therapy: Nucleic Acids, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation of the D4Z4 repeat resulting in misexpression of the D4Z4-encoded DUX4 gene in skeletal muscle.
Darina Šikrová, Vlad A. Cadar, Yavuz Ariyurek, Jeroen F.J. Laros, Judit Balog, Silvère M. van der Maarel   +5 more
doaj   +1 more source

Tolerability and Feasibility of Minimally Invasive Canine Skin Sampling: Excellent Tolerability Meets Transcriptomic Challenges

Veterinary Dermatology, Volume 37, Issue 3, Page 375-385, June 2026.
ABSTRACT Background Advances in transcriptomics have driven the demand for minimally invasive, reproducible and high‐yield skin sampling methods, particularly for studying inflammatory skin diseases in companion animals. Hypothesis/Objectives We tested tolerability, feasibility and RNA quantity and quality of three minimally invasive skin sampling ...
Ina Herrmann, Lisa B. Mamo, Allison N. Dickey   +2 more
wiley   +1 more source

Generation cycles in experimental populations of a multivoltine insect

Journal of Animal Ecology, Volume 95, Issue 5, Page 782-794, May 2026.
Although theory suggests various mechanisms by which environmental and ecological factors may drive generational fluctuations, our field‐cage experiment is the first to demonstrate how internal dynamics and external disturbances jointly produce synchronised, large‐scale outbreak cycles.
Takehiko Yamanaka, Yasushi Sato, William A. Nelson, Ottar N. Bjørnstad   +3 more
wiley   +1 more source

Large mammal recovery in the wake of human population decline

Journal of Applied Ecology, Volume 63, Issue 5, May 2026.
Human depopulation, particularly in rural areas, has contributed to the recovery of some large mammal populations. While recovery is generally good news for conservation, it can also lead to human‐wildlife conflict. We present several avenues to maximize coexistence in the face of further rural depopulation in other places. Read the free Plain Language
Alex J. Jensen, Benjamin R. Goldstein, Keita Fukasawa, Fabiola Iannarilli, Roland Kays   +4 more
wiley   +1 more source