Results 31 to 40 of about 4,991 (181)
Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy. [PDF]
Front NeurolBackgroundThis study aimed to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) for Serbian patients with facioscapulohumeral muscular dystrophy (FSHD) in order to measure their disease burden.Patients and methodForty-one patients
Ralic B +9 more
europepmc +2 more sources
Facioscapulohumeral muscular dystrophy [PDF]
Rare Diseases, 2013 Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and
Stadler, Guido +4 more
openaire +3 more sources
Orofacial Manifestations Associated with Muscular Dystrophies: A Review
Turkish Journal of Orthodontics, 2022 The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy ...
Petros Papaefthymiou +2 more
doaj +1 more source
Early onset facioscapulohumeral muscular dystrophy [PDF]
Muscle & Nerve, 1995 We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD.
Brouwer, O.F. +4 more
openaire +6 more sources
Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA
Cell Reports, 2018 Summary: Double homeobox (DUX) transcription factors are unique to eutherian mammals. DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and ...
John K. Lee +9 more
doaj +1 more source
Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy
Frontiers in Genome Editing, 2022 Facioscapulohumeral dystrophy (FSHD) is a skeletal muscle disease caused by the aberrant expression of the DUX4 gene in the muscle tissue. To date, different therapeutic approaches have been proposed, targeting DUX4 at the DNA, RNA or protein levels. The
Virginie Mariot, Julie Dumonceaux
doaj +1 more source
Random forest: random results or meaningful insights for patients with facioscapulohumeral muscular dystrophy? [PDF]
, 2021 This scientific commentary refers to ‘Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy’ by Katz et al. (doi:10.1093/brain/awab326)
Alfano, Lindsay N, Mozaffar, Tahseen
core +1 more source
Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment
Neurologijos seminarai, 2023 Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy characterised by weakness of the face, scapula, upper arm, and other muscles.
T. Mikalauskas, B. Burnytė
doaj +3 more sources
, 2020 Full author list omitted for brevity. For the full list of authors, see article.The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of ...
Kunkel, Louis M. +3 more
core +1 more source
Nature Communications, 2021 Facioscapulohumeral muscular dystrophy is a myopathy caused by aberrant de-repression of the DUX4 gene. Here, the authors show that miR-675 inhibits DUX4 expression and protects muscles from DUX4-mediated cell death when administered to mice using AAV ...
Nizar Y. Saad +7 more
doaj +1 more source