Results 71 to 80 of about 8,309 (264)

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

Assessment of the Use of Non-Pharmacological Methods for Managing Depression in Patients with Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2018
Background: Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are two types of muscular dystrophies with multi-system manifestations.
Miller, Kimberly, Parkhill, Amy L., Roberts, Mackenzie, Skalla, Deidre   +3 more
core   +1 more source

Estrogen‐Related Receptor Alpha Promotes Skeletal Muscle Regeneration and Mitigates Muscular Dystrophy

The FASEB Journal, Volume 39, Issue 19, 15 October 2025.
ERRα promotes muscle regeneration. ERRα drives angiogenic and mitochondrial metabolic gene program in proliferating and differentiating myogenic cells. ERRα also induces myogenic factor genes such as MyoG. Through these pathways ERRα promotes muscle regeneration in the skeletal muscle in acute injury and chronic myopathy.
Thi Thu Hao Nguyen, Ya Xiang Huang, Svitlana Poliakova, Citu Citu, Eira Mann, Danesh H. Sopariwala, Zhongming Zhao, Ashok Kumar, Vihang A. Narkar   +8 more
wiley   +1 more source

An integrated approach in a case of facioscapulohumeral dystrophy [PDF]

, 2014
BACKGROUND: Muscle fatigue, weakness and atrophy are basilar clinical features that accompany facioscapulohumeral dystrophy (FSHD) the third most common muscular dystrophy.No therapy is available for FSHD.
Berardinelli, Angela, D'Antona, Giuseppe, Giovanetti, Giuseppe, Longa, Emanuela, Magnani, Bruno, Pasotti, Stefano, Rossi, Albino, TUPLER, Rossella   +7 more
core   +1 more source

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

Nature Communications, 2017
Facioscapulohumeral muscular dystrophy is a severe myopathy that is caused by abnormal activation of DUX4, and for which a suitable mouse model does not exist.
Darko Bosnakovski, Sunny S. K. Chan, Olivia O. Recht, Lynn M. Hartweck, Collin J. Gustafson, Laura L. Athman, Dawn A. Lowe, Michael Kyba   +7 more
doaj   +1 more source

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry [PDF]

, 2016
Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies.
Evangelista, T, Fernandez-Torron, R, Guglieri, M, Hilton-Jones, D, Hudson, J, Lochmüller, H, Lunt, P, Norwood, F, Orrell, R, Rafferty, K, Smith, D, Williams, M, Willis, T, Wood, L   +13 more
core   +1 more source

Facioscapulohumeral muscular dystrophy [PDF]

Current Opinion in Neurology, 2012
In recent years, we have seen remarkable progress in our understanding of the disease mechanism underlying facioscapulohumeral muscular dystrophy (FSHD). The purpose of this review is to provide a comprehensive overview of our current understanding of the disease mechanism and to discuss the observations supporting the possibility of a developmental ...
Maarel, S.M. van der, Miller, D.G., Tawil, R., Filippova, G.N., Tapscott, S.J.   +4 more
openaire   +4 more sources

Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy

Trends in Molecular Medicine, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying genetics and poor mechanistic understanding has caused a bottleneck in therapeutic development.
Angela Lek, Alec M. DeSimone, Monkol Lek, Justin B. Cohen   +3 more
openaire   +4 more sources

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features

European Journal of Neurology, Volume 32, Issue 10, October 2025.
ABSTRACT Background and Objectives Camptocormia, a pathological forward flexion of the spine, is a relatively common but often unexplained postural abnormality. Facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent adult myopathies, is caused by a contraction of D4Z4 repeats on chromosome 4 and typically presents with facial ...
Eleonora Torchia, Patrick Vandeputte, Mauro Monforte, Charlène Gillet, Christophe Verny, Rafaelle Bernard, Giorgio Tasca, Marco Spinazzi   +7 more
wiley   +1 more source

Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy

Otolaryngology Case Reports, 2022
Background: Facioscapulohumeral muscular dystrophy (FSHD) is the one of the most common types of muscular dystrophy. We present a retrospective case description of a patient with late-onset, atypical FSHD and provide an overview of the clinical history ...
Nneoma S. Wamkpah, John J. Chi
doaj   +1 more source