Results 111 to 120 of about 55,263 (257)

The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies

Frontiers in Neurology, 2019
Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly anecdotal evidence.
Emma L. Bostock, Dawn N. O'Dowd, Carl J. Payton, Dave Smith, Paul Orme, Bryn T. Edwards, Christopher I. Morse   +6 more
doaj   +1 more source

The Roles of EDA2R in Ageing and Disease

Aging Cell, Volume 24, Issue 12, December 2025.
Elevated expression of the ectodysplasin A2 receptor (EDA2R) has been linked to ageing and disease. We appraise the roles of EDA2R in these processes, exploring mechanisms of action, biomarker potential and therapeutic relevance of EDA2R in multiple contexts. ABSTRACT Ageing is a complex biological process driven, in part, by inflammaging.
Gemma Farrington, Lauren Tonge, Tracy Branagan, Sud Sudirman, Chao Fang, Louis Luk, Serkan Kir, Marco Bolis, Ildus I. Ahmetov, Kehinde Ross   +9 more
wiley   +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

Analyzing Pain Medication Use and Adherence in Patients with Myotonic Dystrophy and Facioscapulohumeral Dystrophy [PDF]

, 2015
Objectives: Myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD) are two of the most common muscular dystrophies in adults. It has been reported that patients with these two disorders may suffer from pain and inadequate pain management.
Fitzgerald, Bryan, Parkhill, Amy L.
core   +1 more source

Noncoding RNAs and Duchenne muscular dystrophy [PDF]

, 2016
Noncoding RNAs (ncRNAs) such as miRNAs and long noncoding RNAs modulate gene transcription in response to environmental stressors and other stimuli. A role for ncRNAs in muscle pathologies has been demonstrated and further evidence suggests that ncRNAs ...
Austin PJ, Butchart LC, Francesco Muntoni, Mark M Perry, Perry MM, Valeria De A   +5 more
core   +1 more source

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources

Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies

iScience
Summary: The routine need for myonuclear turnover in skeletal muscle, together with more sporadic demands for hypertrophy and repair, are performed by resident muscle stem cells called satellite cells.
Elise N. Engquist, Anna Greco, Leo A.B. Joosten, Baziel G.M. van Engelen, Christopher R.S. Banerji, Peter S. Zammit   +5 more
doaj   +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

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer [PDF]

, 2017
Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine.
Carta, Claudio, Gonzalez-Castro, Lorena, Kaliyaperumal, Rajaram, Lopes, Pedro, Robinson, Peter [u.a.], Sernadela, Pedro, van der Horst, Eelke   +6 more
core   +1 more source

Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy

Science Translational Medicine, 2020
Genome-wide CRISPR-Cas9 screens identify druggable pathways associated with facioscapulohumeral muscular dystrophy. Screening for survival Facioscapulohumeral muscular dystrophy (FSHD) is caused by altered expression of DUX4, a gene important during ...
A. Lek, Yuanfan Zhang, K. Woodman, Shushu Huang, A. DeSimone, Justin Cohen, Vincent Ho, J. Conner, Lillian Mead, Andrew Kodani, A. Pakuła, Neville E. Sanjana, O. King, Peter L Jones, K. Wagner, M. Lek, L. Kunkel   +16 more
semanticscholar   +1 more source