Results 71 to 80 of about 7,021 (220)

Treatment of facioscapulohumeral muscular dystrophy with Denosumab [PDF]

open access: yesAmerican Journal of Case Reports, 2012
Facioscapulohumeral muscular dystrophy (FSHD) is the 3(rd) most common form of muscular dystrophy. Effective treatments for any of the muscular dystrophies have yet to be realized. This report describes such a treatment.A 66 year old female was diagnosed with osteoporosis. She had been diagnosed with FSHD muscular dystrophy a number of years previously
Doris L. Lefkowitz   +2 more
openaire   +3 more sources

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

open access: yesBioethics, 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   +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]

open access: yes, 2018
Background: Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are two types of muscular dystrophies with multi-system manifestations.
Miller, Kimberly   +3 more
core   +1 more source

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

open access: yesThe 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   +8 more
wiley   +1 more source

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

open access: yesNature 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   +7 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy [PDF]

open access: yesCurrent 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   +4 more
openaire   +4 more sources

Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy

open access: yesTrends 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   +3 more
openaire   +4 more sources

Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy

open access: yesOtolaryngology 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

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

open access: yes, 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   +13 more
core   +1 more source

Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD

open access: yesMolecular Therapy: Methods & Clinical Development, 2018
RNAi emerged as a prospective molecular therapy nearly 15 years ago. Since then, two major RNAi platforms have been under development: oligonucleotides and gene therapy.
Lindsay M. Wallace   +10 more
doaj   +1 more source

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