Results 121 to 130 of about 56,560 (289)

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

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives

Health Expectations, Volume 28, Issue 6, December 2025.
ABSTRACT Introduction Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain.
Homira Osman, Zainab Adamji, Stacey Lintern, Ian C. Smith, Alyssa Grant, Lola E.R. Lessard, Hanns Lochmuller, Hugh McMillan, Kathryn Selby, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Kednapa Thavorn, Jodi Warman‐Chardon   +13 more
wiley   +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

DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy

International Journal of Molecular Sciences, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder characterized by asymmetric, progressive muscle weakness and degeneration.
K. Lim, Q. Nguyen, T. Yokota
semanticscholar   +1 more source

Disability, Subject‐Dependence, and the Bad‐Difference View

Bioethics, Volume 39, Issue 9, Page 802-809, November 2025.
ABSTRACT Philosophers have debated on the “mere‐difference” view of disability, according to which disability as such is neutral in terms of well‐being, just like race and gender. It is contrasted with the “bad‐difference” view, which holds that disability is bad for its possessor even in a non‐ableist situation.
Shu Ishida, Mitsuru Sasaki‐Honda, Tsutomu Sawai   +2 more
wiley   +1 more source

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