Results 11 to 20 of about 5,789 (161)

Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound. [PDF]

Muscle Nerve
ABSTRACT Aims Facioscapulohumeral muscular dystrophy (FSHD) is a genetic progressive muscle disorder often presenting with facial weakness. However, imaging studies specifically evaluating facial muscle involvement and its relationship with clinical severity remain limited. This preliminary study explored magnetic resonance imaging (MRI) and ultrasound
Pistoia F, Faedo E, Macciò M, Marcenaro G, Susi ME, Hamedani M, Caramellino V, Massucco S, Vollaro AFM, Mandich P, Gotta F, Picasso R, Zaottini F, Grandis M, Martinoli C.   +14 more
europepmc   +2 more sources

Meeting report: the 2021 FSHD International Research Congress [PDF]

, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical onset in the late teens/early adulthood [1]. Although the etiology of the
Mul, Karlien, Jagannathan, Sujatha, de Greef, Jessica C., Gabellini, Davide, Hayward, Lawrence J., Harper, Scott Q, Arjomand, Jamshid, Sacconi, Sabrina, Yokomori, Kyoko, Kinoshita, June   +9 more
core   +1 more source

Objective Monitoring of Facioscapulohumeral Dystrophy During Clinical Trials Using a Smartphone App and Wearables: Observational Study

JMIR Formative Research, 2022
BackgroundFacioscapulohumeral dystrophy (FSHD) is a progressive muscle dystrophy disorder leading to significant disability. Currently, FSHD symptom severity is assessed by clinical assessments such as the FSHD clinical score and ...
Ghobad Maleki, Ahnjili Zhuparris, Ingrid Koopmans, Robert J Doll, Nicoline Voet, Adam Cohen, Emilie van Brummelen, Geert Jan Groeneveld, Joris De Maeyer   +8 more
doaj   +1 more source

An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy

eLife, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is an incurable myopathy linked to the over-expression of the myotoxic transcription factor DUX4. Targeting DUX4 is the leading therapeutic approach, however, it is only detectable in 0.1–3.8% of FSHD ...
Matthew V Cowley, Johanna Pruller, Massimo Ganassi, Peter S Zammit, Christopher RS Banerji   +4 more
doaj   +1 more source

Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

Disease Models & Mechanisms, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. As DUX4 is the key therapeutic target in FSHD, surrogate biomarkers of DUX4 expression in skeletal muscle are critically needed for clinical trials ...
Andreia M. Nunes, Monique Ramirez, Takako I. Jones, Peter L. Jones   +3 more
doaj   +1 more source

Baroreflex sensitivity in facioscapulohumeral muscular dystrophy

Physiological Reports, 2022
Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss.
Miguel Anselmo, Shandon Coffman, Mia Larson, Kathryn Vera, Emma Lee, Mary McConville, Michael Kyba, Manda L. Keller‐Ross   +7 more
doaj   +1 more source

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients

Cells, 2022
The study describes a protocol for methylation analysis integrated with Machine Learning (ML) algorithms developed to classify Facio-Scapulo-Humeral Dystrophy (FSHD) subjects.
Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni, Cristina Bax, Juliette Gimenez, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella, Claudia Strafella   +13 more
doaj   +1 more source

Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models [PDF]

, 2023
Objective: Facioscapulohumeral muscular dystrophy (FSHD) is caused by abnormal de-repression of the myotoxic transcription factor DUX4. Although the transcriptional targets of DUX4 are known, the regulation of DUX4 protein and the molecular consequences ...
Freitas, Michael A, Emerson, Charles P. Jr., Saad, Nizar Y, Rashnonejad, Afrooz, Eidahl, Jocelyn O, Wallace, Lindsay M, Branson, Owen E, Daman, Katelyn, Choudury, Sarah G, Harper, Scott Q, Hoover, Michael E, Knox, Renatta N, Zhang, Liwen, Guggenbiller, Matthew J   +13 more
core   +1 more source

Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects

Diagnostics, 2021
The true prevalence of facioscapulohumeral muscular dystrophy (FSHD) is unknown due to difficulties with accurate clinical evaluation and the complexities of current genetic diagnostics.
Taylor Gould, Takako I. Jones, Peter L. Jones   +2 more
doaj   +1 more source

Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy

Frontiers in Physiology, 2020
BackgroundSarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes. It is unclear, however, if sarcopenic obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD ...
Kathryn A. Vera, Kathryn A. Vera, Mary McConville, Michael Kyba, Manda L. Keller-Ross, Manda L. Keller-Ross   +5 more
doaj   +1 more source