Results 91 to 100 of about 4,991 (181)

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

Membrane Repair Deficit in Facioscapulohumeral Muscular Dystrophy.

, 2020
Deficits in plasma membrane repair have been identified in dysferlinopathy and Duchenne Muscular Dystrophy, and contribute to progressive myopathy. Although Facioscapulohumeral Muscular Dystrophy (FSHD) shares clinicopathological features with these ...
Yokota, Toshifumi, Adam Horn, Chen, Yi-Wen, Maruyama, Rika, Chen, Yi Wen, Bittel, Daniel C, Bittel, Daniel C., James S. Novak, Daniel C. Bittel, Rika Maruyama, Kenji Rowel Q. Lim, Yi-Wen Chen, Aiping Zhang, Adam J. Bittel, Bittel, Adam J., Novak, James S., Toshifumi Yokota, Bittel, Adam J, Sreetama, Sen Chandra, Sen Chandra Sreetama, Zhang, Aiping, Rowel Q Lim, Kenji, Jaiswal, Jyoti K., Jyoti K. Jaiswal, Lim, Kenji Rowel Q., Novak, James S, Jaiswal, Jyoti K, Horn, Adam   +27 more
core   +1 more source

The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy

, 1992
We report a study, assessing involvement of the heart in 33 familial cases of Becker muscular dystrophy (BMD), 31 familiar cases of facioscapulohumeral (FSH) dystrophy, and 27 familial cases of Bethlem myopathy.
de Visser, M., la Rivière, G. V., de Voogt, W. G.   +2 more
core   +1 more source

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

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   +1 more source

In vivo behaviour of human precursors into a dystrophic context [PDF]

, 2013
The Duchenne Muscular Dystrophy (DMD) is a lethal recessive X-linked disease caused by mutations in the dystrophin gene, no effective treatment is available up to date.
Vallese, Denis
core  

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

, 2012
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a typical pattern of muscle weakness.
Richards, Mark, Upadhyaya, Meena, Thomas, Nicholas Stuart Tudor, Coppée, Frédérique, Belayew, Alexandra   +4 more
core   +1 more source

Advances in imaging of brain abnormalities in neuromuscular disease

Therapeutic Advances in Neurological Disorders, 2019
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj   +1 more source

Facioscapulohumeral Muscular Dystrophy (FSHD)

This is an introduction to Facioscapulohumeral Muscular Dystrophy (FSHD) and its causes, presentation, diagnosis, treatment, and ongoing related research.FSHD Global Research Foundation. (n.d.). What is FSHD? Retrieved from https://fshdglobal.org/what-is-
Rohith Erukulla; Brooke Johnson
core  

Genetic diagnosis of facioscapulohumeral muscular dystrophy in Hong Kong Chinese patients using molecular combing [PI, Supervisor].

, 2022
Third Price – E-poster presentation: AKY Kwong, Y Gao, S Pang, PTW Law, MKLYu, SY Cheng, GCF Chan, SHS Chan*. Genetic diagnosis of facioscapulohumeral muscular dystrophy in Hong Kong Chinese patients using molecular combing [PI, Supervisor]
Yu, KLM, Cheng, Y, Gao, Y, Chan, HSS, Pang, S, Chan, GCF, Kwong, KY, Law, PTW   +7 more
core  

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

, 2006
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is not due to a classical mutation within a protein-coding gene(1,2). Instead, almost all FSHD patients carry deletions of an integral number of tandem 3.3-
B. Angeletti, Maurizio Moggio, M. Moggio, Roberto Bottinelli, Barbara Angeletti, TUPLER, Rossella, R. Adami, C. Zecca, P. Ciscato, Giuseppe D'Antona, G. D'Antona, M. A. Pellegrino, MR Green, MA Pellegrino, M. R. Green, R. Bottinelli, A. Prelle, Maria Antonietta Pellegrino, R. Tupler, Davide Gabellini, Raffaella Adami, Patrizia Ciscato, Michael R. Green, D. Gabellini, Alessandro Prelle, Chiara Zecca, Rossella Tupler   +26 more
core   +2 more sources