Results 21 to 30 of about 7,807 (220)

The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping [PDF]

Orphanet Journal of Rare Diseases
Background Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized by a reduction in the number of D4Z4 repeats on chromosome 4q35.
Mengmeng Li, Na Hao, Jiazhen Chang, Kaili Yin, Xueting Yang, Yaru Wang, Yi Dai, Yulin Jiang   +7 more
doaj   +2 more sources

FSHD / OPMD / MYOTONIC DYSTROPHY [PDF]

Neuromuscular Disorders, 2020
D. van As, K. Okkersen, B. van Engelen, G. Bassez, B. Schoser, G. Gorman, P. 't Hoen   +6 more
  +13 more sources

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

On the Role of Delays to Diagnosis of Facioscapulohumeral Muscular Dystrophy [PDF]

International Journal of Biomedicine, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that predominantly affects the facial, scapular, and humeral musculature. Scapular winging is the most common initial finding in patients with FSHD.
Elan Schonfeld, Charulatha P. Nagar
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

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
Muscle biopsies from patients across eight neuromuscular disorders and healthy controls were analyzed using immunofluorescence (IF) and immunoblot (WB) to evaluate the expression and localization of seven annexin proteins (A1, A2, A4, A5, A6, A7, A11).
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 more
europepmc   +2 more sources

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