Results 111 to 120 of about 1,867 (154)

Medical Claim Costs of Facioscapulohumeral Muscular Dystrophy in the United States

ClinicoEconomics and Outcomes Research
Amanda A Hill,1 June Kinoshita,1 Mariefel Nicole Deypalan,2 Marina Kolocha,3 Man Hung,4 Eric Hon,4 William Sarraille,5 Wayne Winegarden,6 Tanyatorn Ghanjanasak,7 Jamshid Arjomand1 1FSHD Society, Randolph, MA, USA; 2Independent Researcher, Iligan City ...
Hill AA, Kinoshita J, Deypalan MN, Kolocha M, Hung M, Hon E, Sarraille W, Winegarden W, Ghanjanasak T, Arjomand J   +9 more
doaj  

Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy

Stem Cell Research
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically complex condition marked by progressive skeletal muscle weakness, primarily affecting the face, shoulders, and upper arms.
Ravichandra Venkateshappa, Francesca Vacante, Lingyun Xu, Gabriela Canel-Rivero, John W. Day, Joseph C. Wu   +5 more
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Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience

Journal of Patient-Reported Outcomes
Background Facioscapulohumeral muscular dystrophy (FSHD) is a rare, autosomal dominant disorder that adversely affects life expectancy and health-related quality of life.
Wenjing Ji, Yifei Zhao, Yuqiang Kang, Zikai He, Linkai Xu, Sundus Shukar, Ailiyaer Aikepaier, Xinyue Chen, Qifang He, Minghui Zeng, Yuhua Lin, Minting Lin, Huxinigeer Maimaiti, Tingting Liu, Linguo Li, Zhiqiang Wang, Yu Fang   +16 more
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Quantitative Three-dimensional Scanning of Facial Movements in Facioscapulohumeral Dystrophy

Neurological Sciences and Neurophysiology
Background: Facioscapulohumeral dystrophy (FSHD) is the third prevalent neuromuscular disorder, particularly with facial and upper limb involvement. Due to its characteristics, quantitative assessment of facial function is challenging but essential for ...
Ceren Hangul, Umut Ozsoy, Arzu Hizay, Sibel Berker Karauzum, Elizabeta Sauer, Mehmet Ziya Firat, Hilmi Uysal   +6 more
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Kako prepoznati FSHD?

, 2011
Kako bismo prepoznali FSHD, potrebno misliti na: • Genetsku mišićnu bolest • Učestalost u populaciji • Dob i spol bolesnika • Poznavati kliničku sliku i pažljivo gledati bolesnika: o Atrofična o Asimetrična o Selektivna o Descendentna zahvaćenost mišića • Slušati bolesnika (bolovi u mišićima) • Genetske osobitosti: o Autosomna dominantna bolest o De ...
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A Novel Coincidence: Essential Thrombocythemia with Facioscapulohumeral Muscular Dystrophy

Turkish Journal of Hematology, 2020
Ceren Hangül, Orhan Kemal Yücel, Aslı Toylu, Hilmi Uysal, Sibel Berker Karaüzüm   +4 more
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Inappropriate Gene Activation in FSHD [PDF]

Cell, 2002
Gabellini, Davide, Green, Michael R., Tupler, Rossella   +2 more
openaire   +1 more source

Epigenetics in facioscapulohumeral muscular dystrophy (FSHD) [PDF]

Human Mutation, 2009
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Methylation of the FSHD Syndrome-Linked Subtelomeric Repeat in Normal and FSHD Cell Cultures and Tissues

Molecular Genetics and Metabolism, 2001
Facioscapulohumeral muscular dystrophy (FSHD) has an unusual molecular etiology. In a putatively heterochromatic subtelomeric region of each chromosome 4 homologue (4q35), unaffected individuals have 11 to about 95 tandem copies of a complex 3.3-kb repeat (D4Z4). Most FSHD patients have less than 10 copies at one allelic 4q35. This has been proposed to
Baodong Sun, Melanie Ehrlich
exaly   +3 more sources

Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy [PDF]

Neuromuscular Disorders, 2021
This study aims to investigate intra-rater reliability and construct validity of the Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM), in childhood FSHD.
Kate Carroll, Katy L De Valle, K Eichinger   +2 more
exaly   +2 more sources