Results 21 to 30 of about 57,206 (164)

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

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, Darko Bosnakovski, Erik A. Toso, Tracy Dinh, Surajit Banerjee, Thomas E. Bohl, Ke Shi, Kayo Orellana, Michael Kyba, Hideki Aihara   +9 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

Management of Coats-Like Disease in a Forty-Four-Year-Old Patient with FSHD Type I

Case Reports in Ophthalmology, 2023
A forty-four-year-old female patient known for FSHD type I, with unremarkable past ocular history, complained of progressive visual acuity deterioration during a routine ophthalmological visit.
Francesca Bruzzone, Tim Beltraminelli, Alex Casanova, Moreno Menghini   +3 more
doaj   +1 more source

Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy [PDF]

, 2015
Background: We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and ...
Papavasileiou, Evangelia, Lobo, Ann-Marie, Evangelia Papavasileiou, Ann-Marie Lobo   +3 more
core   +1 more source

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression

Cell Reports, 2019
Summary: The DUX4 transcription factor is briefly expressed in the early cleavage-stage embryo, where it induces an early wave of zygotic gene transcription, whereas its mis-expression in skeletal muscle causes the muscular dystrophy facioscapulohumeral ...
Rebecca Resnick, Chao-Jen Wong, Danielle C. Hamm, Sean R. Bennett, Peter J. Skene, Sandra B. Hake, Steven Henikoff, Silvère M. van der Maarel, Stephen J. Tapscott   +8 more
doaj   +1 more source

Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1

Stem Cell Research, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophy. FSHD type 1 (FSHD1) is caused by multicopy contraction of D4Z4 repeats on chromosome 4q35.
Fuze Zheng, Long Chen, Liangliang Qiu, Lin Lin, Xin Lin, Qifang He, Lili Wang, Zhixian Ye, Minting Lin, Zhiqiang Wang   +9 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

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

Dysphagia in facioscapulohumeral muscular dystrophy. [PDF]

, 2006
Contains fulltext : 50260.pdf (Publisher’s version ) (Open Access)Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD).
Wohlgemuth, M., Vliet, A.M. van der, Joosten, F.B.M., Kalf, J.G., Padberg, G.W.A.M., Swart, B.J.M. de   +5 more
core   +1 more source