ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy by Sandrine Arbogast, Heinrich Kotzur, Corinna Frank, Nathalie Compagnone, Thibault Sutra, Fabien Pillard, Sylvia Pietri, Nisrine Hmada, Daouda Moustapha Abba Moussa, Jamie Bride, Sarah Françonnet, Jacques Mercier, Jean-Paul Cristol, Marie-Christine Dabauvalle, Dalila Laoudj-Chenivesse

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EYE PATHOLOGIES IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (CASE REPORT AND LITERARY ANALYSIS) by E. V. Denisova, L. A. Katargina, L. V. Kogoleva, M. V. Belova, N. A. Osipova, E. V. Fedoseeva

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Surgical correction of hyperlordosis in facioscapulohumeral muscular dystrophy: A case report by Haining Tan, Fan Feng, Youxi Lin, Chong Chen, Zheng Li, Jianxiong Shen

Subjects: “…Facioscapulohumeral muscular dystrophy…”
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Upper Limb Rehabilitation in Facioscapulohumeral Muscular Dystrophy: A Patients’ Perspective by Alice Faux-Nightingale, MPhil, Richa Kulshrestha, MRCPCH, Nicholas Emery, PGDip, Anand Pandyan, PhD, Tracey Willis, MD, Fraser Philp, PhD

“…Objective: To identify (1) what exercise modalities people living with facioscapulohumeral muscular dystrophy (FSHD) are undertaking in the community as a part of their ongoing rehabilitation and (2) what future research projects would gain the support of people with FSHD. …”
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Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review by Tai-Heng Chen, Yan-Zhang Wu, Yung-Hao Tseng

Subjects: “…facioscapulohumeral muscular dystrophy…”
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Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy by Leo H. Wang, Dennis W. W. Shaw, Anna Faino, Christopher B. Budech, Leann M. Lewis, Jeffrey Statland, Katy Eichinger, Stephen J. Tapscott, Rabi N. Tawil, Seth D. Friedman

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Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges by Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico Bugiardini

“…Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35. …”
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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies by Ana Nikolic, Takako I Jones, Monica Govi, Fabiano Mele, Louise Maranda, Francesco Sera, Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Simona Portaro, Luisa Villa, Chiara Fiorillo, Lorenzo Maggi, Lucio Santoro, Giovanni Antonini, Massimiliano Filosto, Maurizio Moggio, Corrado Angelini, Elena Pegoraro, Angela Berardinelli, Maria Antonetta Maioli, Grazia D’Angelo, Antonino Di Muzio, Gabriele Siciliano, Giuliano Tomelleri, Maurizio D’Esposito, Floriana Della Ragione, Arianna Brancaccio, Rachele Piras, Carmelo Rodolico, Tiziana Mongini, Frederique Magdinier, Valentina Salsi, Peter L. Jones, Rossella Tupler

“…Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. …”
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Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy by Anja Kovanda, Luca Lovrečić, Gorazd Rudolf, Ivana Babic Bozovic, Helena Jaklič, Lea Leonardis, Borut Peterlin

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Acupuncture Improves the Facial Muscular Function in a Case of Facioscapulohumeral Muscular Dystrophy by Yutan Liu, Fei Xiao, Xibin Liang

“…Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which muscles of the face, shoulder blades, and upper arms develop gradual and progressive weakness. …”
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Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy by Victor Corasolla Carregari, Mauro Monforte, Giuseppe Di Maio, Luisa Pieroni, Andrea Urbani, Enzo Ricci, Giorgio Tasca

Subjects: “…facioscapulohumeral muscular dystrophy…”
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Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7 by Christopher R S Banerji, Peter S Zammit

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Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. by Giorgio Tasca, Mario Pescatori, Mauro Monforte, Massimiliano Mirabella, Elisabetta Iannaccone, Roberto Frusciante, Tiziana Cubeddu, Francesco Laschena, Pierfrancesco Ottaviani, Enzo Ricci

“…BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. …”
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Influence of <i>DUX4</i> Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments by Elisa Duranti, Chiara Villa

Subjects: “…facioscapulohumeral muscular dystrophy…”
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Correlation analysis between genotype and phenotype of patients with facioscapulohumeral muscular dystrophy type 1 by Huan LI, Qiu CHEN, Jin-fu LIN, Zi-yu LIAO, Liang WANG, Jing LI, Yu-ling ZHU, Cheng ZHANG

“…Objective To investigate the clinical phenotype and genotype of facioscapulohumeral muscular dystrophy type 1 (FSHD1) and the correlation between the two. …”
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A team approach in the diagnosis and management of facioscapulohumeral muscular dystrophy: a case report by Robert L. Parisien, MD, Joanne Zhang, MD, Tony Tannoury, MD, Andrew Stein, MD, Xinning Li, MD

Subjects: “…Facioscapulohumeral muscular dystrophy…”
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PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle by Christopher R. S. Banerji, Maryna Panamarova, Husam Hebaishi, Robert B. White, Frédéric Relaix, Simone Severini, Peter S. Zammit

“…Facioscapulohumeral muscular dystrophy is a myopathy linked to ectopic expression of the DUX4 transcription factor. …”
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Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients by Lorena Di Pietro, Flavia Giacalone, Elvira Ragozzino, Valentina Saccone, Federica Tiberio, Marco De Bardi, Mario Picozza, Giovanna Borsellino, Wanda Lattanzi, Enrico Guadagni, Sara Bortolani, Giorgio Tasca, Enzo Ricci, Ornella Parolini

“…These cells have recently emerged as remarkable therapeutic targets for neuromuscular disorders, although to date they have been poorly investigated in facioscapulohumeral muscular dystrophy (FSHD). In this study, we characterised the non-myogenic mesenchymal stromal cell population in FSHD patients’ muscles with signs of disease activity, identified by muscle magnetic resonance imaging (MRI), and compared them with those obtained from apparently normal muscles of FSHD patients and from muscles of healthy, age-matched controls. …”
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A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy by Virginie Mariot, Romain Joubert, Anne-Charlotte Marsollier, Christophe Hourdé, Thomas Voit, Julie Dumonceaux

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Anesthetic management with remimazolam for laryngectomy in a severely underweight patient with facioscapulohumeral muscular dystrophy by Kwon Hui Seo, Ji Yung Lee

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