Results 11 to 20 of about 56,560 (289)

A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic [PDF]

Molecular Therapy: Methods & Clinical Development
Facioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman, Jing Yan, Annabelle Biscans, Dimas Echeverria, Taisia Shmushkovich, Alexey Wolfson, Julia F. Alterman, Anastasia Khvorova, Charles P. Emerson, Jr.   +8 more
doaj   +3 more sources

Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

EMBO Molecular Medicine, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal muscle weakness and wasting. FSHD is linked to epigenetic derepression of the subtelomeric D4Z4 macrosatellite at chromosome 4q35.
C. Banerji, P. Zammit
semanticscholar   +3 more sources

Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient [PDF]

SAGE Open Medical Case Reports, 2022
Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting all ages, primarily people in the second decade. The disease is initially presented with face, shoulder girdle, and upper arm involvement, followed by lower extremity muscle ...
Olga Triantafyllidou, Konstantinos Stavridis, Stavroula Lila Kastora, Nikolaos Vlahos   +3 more
doaj   +2 more sources

Changes in pain-related beliefs, coping, and catastrophizing predict changes in pain intensity, pain interference, and psychological functioning in individuals with myotonic muscular dystrophy and facioscapulohumeral dystrophy [PDF]

, 2011
The primary aim of this study was to test hypothesized associations between changes in psychological variables (i.e., pain beliefs, catastrophizing and coping strategies) and changes in pain intensity and related adjustment (i.e., pain interference and ...
Jensen, Mark P., Miró Martínez, Jordi, Nieto Luna, Rubén, Raichle, Katherine A.   +3 more
core   +3 more sources

A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD). [PDF]

Muscle Nerve
In preparation for clinical trials, it is important to better understand how disease burden changes over time in facioscapulohumeral muscular dystrophy (FSHD) and to assess the capability of select metrics to detect these changes.
Varma A, Todinca MS, Eichinger K, Heininger S, Dilek N, Martens W, Tawil R, Statland J, Kissel JT, McDermott MP, Heatwole C.   +10 more
europepmc   +2 more sources

IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy. [PDF]

J Neuromuscul Dis
Background: FSHD is a highly prevalent inherited myopathy with a still poorly understood pathology. Objective: To investigate whether proinflammatory cytokines are associated with FSHD and which specific innate immune cells are involved in its pathology.
Greco A, Mul K, Jaeger MH, Dos Santos JC, Koenen H, de Jong L, Mann R, Fütterer J, Netea MG, Pruijn GJM, van Engelen BGM, Joosten LAB.   +11 more
europepmc   +2 more sources

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy‐Affected Skeletal Muscles [PDF]

Stem Cells Translational Medicine, 2016
Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles. The dearth of adequate experimental models has severely hampered our understanding of the disease.
Leslie Caron, Devaki Kher, Kian Leong Lee, Robert McKernan, Biljana Dumevska, Alejandro Hidalgo, Jia Li, Henry Yang, Heather Main, Giulia Ferri, Lisa M. Petek, Lorenz Poellinger, Daniel G. Miller, Davide Gabellini, Uli Schmidt   +14 more
doaj   +2 more sources

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials

Cells, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the ...
Mehdi Ghasemi, Charles P. Emerson, Lawrence J. Hayward   +2 more
doaj   +2 more sources

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy [PDF]

Open Medicine
Statin use can lead to various muscle-related issues, including benign creatine kinase (CK) elevations, myalgias, toxic myopathies, rhabdomyolysis, and immune-mediated necrotizing myositis (IMNM), which primarily affects older males.
Braun Andreas Albert, Atiya Monika, Göhner Katja, Hortobagyi Tibor, Burkhardt Tobias, Schreiner Bettina   +5 more
doaj   +2 more sources

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Frontiers in Neurology, 2021
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in FSHD
Allison Ducharme-Smith, Stefan Nicolau, C. Anwar A. Chahal, C. Anwar A. Chahal, C. Anwar A. Chahal, Kirstie Ducharme-Smith, Shujah Rehman, Keerthi Jaliparthy, Nadeem Khan, Christopher G. Scott, Erik K. St Louis, Teerin Liewluck, Virend K. Somers, Grace Lin, Peter A. Brady, Margherita Milone   +15 more
doaj   +2 more sources