Results 51 to 60 of about 5,789 (161)

Whole Body Phase Angle as a Promising Marker of Disease Severity in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims To investigate its potential role as a marker of disease severity in facioscapulohumeral dystrophy (FSHD), this study examined the association between whole‐body phase angle (PhA) and clinically assessed severity in FSHD patients.
Oscar Crisafulli, Renato Baptista, Andi Nuredini, Matteo Fortunati, Luca Grattarola, Rossella Tupler, Anna Odone, Giuseppe D'Antona   +7 more
wiley   +1 more source

"Small molecule screen to identify inhibitors of DUX4-mediated toxicity, therapeutic approach for FSHD"

, 2012
Aim 1. To narrow our focus to the most promising direct DUX4 inhibitors. From the current 82 selected compounds which rescue DUX4 toxicity, we will narrow down the list to direct DUX4 inhibitors by means of additional secondary screens.
Bosnakovski, Darko
core   +2 more sources

Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei

Skeletal Muscle, 2018
Background Facioscapulohumeral muscular dystrophy (FSHD) is associated with DNA hypomethylation at the 4q35 D4Z4 repeat array. Both the causal gene DUX4 and its homolog DUX4c are induced. DUX4c is immunodetected in every myonucleus of proliferative cells,
Céline Vanderplanck, Alexandra Tassin, Eugénie Ansseau, Sébastien Charron, Armelle Wauters, Céline Lancelot, Kelly Vancutsem, Dalila Laoudj-Chenivesse, Alexandra Belayew, Frédérique Coppée   +9 more
doaj   +1 more source

Time‐Efficient Interleaved Spin Density‐Weighted and Inversion Recovery 23Na MRI of the Human Calf Muscle at 7 T

Magnetic Resonance in Medicine, Volume 96, Issue 6, Page 2675-2684, December 2026.
ABSTRACT Purpose Spin density‐weighted (SDW) and inversion recovery (IR) 23Na MRI provide different sodium contrasts with complementary information. Therefore, the aim was to develop a time‐efficient sequence scheme capable of providing both contrasts by acquiring SDW and IR 23Na MRI data within a single sequence without additional measurement time ...
Tobias Wilferth, Fiona Meyer, Jordan M. Höhn, Michael Uder, Armin M. Nagel   +4 more
wiley   +1 more source

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy

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   +1 more source

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Quantitative muscle MRI is increasingly used to assess structural muscle damage in inherited myopathies, but its application in primary mitochondrial myopathies (PMM) has not been systematically evaluated in large cohorts. Because PMM are clinically and genetically heterogeneous, objective imaging biomarkers are needed to quantify ...
Ana Bermejo‐Moriñigo, Paloma Martín‐Jiménez, Violeta González‐Méndez, Laura Bermejo‐Guerrero, Luz Edith Ochoa, Cristina Martín‐Arriscado, Andrea Alcalá‐Galiano, Cristina Casado‐Pérez, María Navarro‐Riquelme, Rocío Garrido‐Moraga, Adrián González Quintana, Alberto Blázquez, Cristina Domínguez‐González   +12 more
wiley   +1 more source

Cellular and animal models for facioscapulohumeral muscular dystrophy

Disease Models & Mechanisms, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound
Alec M. DeSimone, Justin Cohen, Monkol Lek, Angela Lek   +3 more
doaj   +1 more source

DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy. [PDF]

PLoS ONE, 2011
Facioscapulohumeral muscular dystrophy (FSHD) is linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35.2 from 11-100 copies to 1-10 copies.
Benjamin D Pope, Koji Tsumagari, Dana Battaglia, Tyrone Ryba, Ichiro Hiratani, Melanie Ehrlich, David M Gilbert   +6 more
doaj   +1 more source

Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele

Epigenetics & Chromatin, 2018
Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) has an autosomal dominant pattern of inheritance and primarily affects skeletal muscle.
Premi Haynes, Karol Bomsztyk, Daniel G. Miller   +2 more
doaj   +1 more source

Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross‐Sectional Survey

Physiotherapy Research International, Volume 31, Issue 4, October 2026.
ABSTRACT Background and Purpose Spinal and bulbar muscular atrophy (SBMA) is an adult‐onset X‐linked neuromuscular disorder associated with progressive weakness, sensory involvement and impaired mobility. Falls appear frequent in SBMA, but their real‐world frequency and circumstances have not been systematically described.
Laurence E. Lee, Luca Zampedri, Dipa Jayaseelan, Carlo Rinaldi, Pietro Fratta, Gita M. Ramdharry   +5 more
wiley   +1 more source