Results 41 to 50 of about 5,041 (194)

Current Therapeutic Approaches in FSHD

Journal of Neuromuscular Diseases, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. Over the last decade, a consensus was reached regarding the underlying cause of FSHD allowing—for the first time—a targeted approach to treatment. FSHD is the result of a toxic gain-of-function from de-repression of the DUX4 gene, a gene not normally expressed
Wang, Leo H., Tawil, Rabi
openaire   +3 more sources

Apabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells

Biomedicines, 2023
Facioscapulohumeral dystrophy (FSHD) is a muscle disease caused by inappropriate expression of the double homeobox 4 (DUX4) gene in skeletal muscle, and its downstream activation of pro-apoptotic transcriptional programs.
Christopher D. Sarsons, Dean Gilham, Laura M. Tsujikawa, Sylwia Wasiak, Li Fu, Brooke D. Rakai, Stephanie C. Stotz, Agostina Carestia, Michael Sweeney, Ewelina Kulikowski   +9 more
doaj   +1 more source

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

Orphanet Journal of Rare Diseases, 2021
Background The Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients affected by Facioscapulohumeral dystrophy (FSHD) and their relatives.
Cinzia Bettio, Valentina Salsi, Mirko Orsini, Enrico Calanchi, Luca Magnotta, Luca Gagliardelli, June Kinoshita, Sonia Bergamaschi, Rossella Tupler   +8 more
doaj   +1 more source

Respiratory pattern in a FSHD pediatric population [PDF]

Respiratory Medicine, 2017
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Kernebeek, C.R. van, Seijger, C.G., Goselink, R.J.M., Heijdra, Y.F., Engelen, B.G.M. van   +4 more
openaire   +3 more sources

Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD)

, 2017
FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent hereditary myopathies and is generally characterized by progressive muscle atrophy affecting the face, scapular fixators; upper arms and distal lower legs.
Vanderplanck, Celine, Harper, Scott Q, Wauters, Armelle, Ansseau, Eugenie, Belayew, Alexandra, Coppee, Frederique   +5 more
core   +1 more source

The FSHD atrophic myotube phenotype is caused by DUX4 expression. [PDF]

PLoS ONE, 2011
BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the D4Z4 repeat array in which we identified the double homeobox 4 (DUX4) gene.
Céline Vanderplanck, Eugénie Ansseau, Sébastien Charron, Nadia Stricwant, Alexandra Tassin, Dalila Laoudj-Chenivesse, Steve D Wilton, Frédérique Coppée, Alexandra Belayew   +8 more
doaj   +1 more source

Emerging preclinical animal models for FSHD [PDF]

Trends in Molecular Medicine, 2015
Facioscapulohumeral dystrophy (FSHD) is a unique and complex genetic disease that is not entirely solved. Recent advances in the field have led to a consensus genetic premise for the disorder, enabling researchers to now pursue the design of preclinical models.
Lek, Angela, Rahimov, Fedik, Jones, Peter L., Kunkel, Louis M.   +3 more
openaire   +3 more sources

Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy

, 2017
INTRODUCTION: In preparation for future clinical trials, we determined the reliability, relationship to measures of disease severity, and consistency across sites of the 6 Minute Walk Test (6MWT) in patients with facioscapulohumeral muscular dystrophy ...
Grosmann, Carla, Heatwole, Chad, Stinson, Nikia, Matichak Stock, Carly, Wagner, Kathryn R., Statland, Jeffrey M., Eichinger, Katy, FSHD Clinical Trials Research Network, Tawil, Rabi, Heininger, Susanne   +9 more
core   +1 more source

Measuring Nutrition Security Using the Consumer Food Data System Datasets

Applied Economic Perspectives and Policy, EarlyView.
ABSTRACT Nutrition security is an emerging concept lacking a consensus definition, conceptualization, or standardized measure. This perspectives manuscript synthesizes findings from two previously published analyses to assess the feasibility of using available measures of key dimensions of nutrition security from two Consumer Food Data System (CFDS ...
Vibha Bhargava, Jung Sun Lee, Travis A. Smith   +2 more
wiley   +1 more source

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

, 2021
Background: Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles.
Goselink, R., Voermans, N.C., Tawil, R., Tapscott, S.J., Zidar, J., Padberg, G.W.A.M., Blatnik, A., Engelen, B.G.M. van, Maarel, S.M. van der, Henderson, D., Vliet, P.J. van der, Lemmers, R.J.L.F., Balog, J.   +12 more
core   +1 more source