Showing 61 - 80 results of 184 for search '"facioscapulohumeral muscular dystrophy"', query time: 7.23s Refine Results
  1. 61
    Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD).

    Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD). by Takako I Jones, Megan Parilla, Peter L Jones

    Published 2016-01-01
    “…Facioscapulohumeral muscular dystrophy (FSHD) is typically an adult onset dominant myopathy. …”
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    Article
  2. 62
    Modified transfer of the pectoralis major muscle for restoration of elbow flexion in facioscapulohumeral muscular dystrophy: A case report

    Modified transfer of the pectoralis major muscle for restoration of elbow flexion in facioscapulohumeral muscular dystrophy: A case report by Joong-Bae Seo, Jae-Wook Jung, Jae-Sung Yoo

    Published 2024-03-01
    “…Background: Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy. …”
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    Article
  3. 63
    A case of type 1 facioscapulohumeral muscular dystrophy (FSHD) with restrictive ventilatory defect and congestive heart failure

    A case of type 1 facioscapulohumeral muscular dystrophy (FSHD) with restrictive ventilatory defect and congestive heart failure by Nobutoshi Morimoto, Mizuki Morimoto, Yoshiaki Takahashi, Motonori Takamiya, Ichizo Nishino, Koji Abe

    Published 2020-12-01
    Subjects: “…Facioscapulohumeral muscular dystrophy (FSHD)…”
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  4. 64
    A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

    A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family by Yayun Qin, Hui Xu, Jingmin Yang, Jingmin Yang, Jingmin Yang, Yiming Wu, Hui Li, Bo Wang, Lijun Liu, Ding Ren, Runhong Xu, Manman Li, Chengcheng Zhang, Jieping Song

    Published 2022-10-01
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  5. 65
    Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

    Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models by Andreia M. Nunes, Monique Ramirez, Takako I. Jones, Peter L. Jones

    Published 2021-08-01
    “…Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. …”
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  6. 66
    Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report

    Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report by Leo H. Wang, Laura M. Johnstone, Michael Bindschadler, Stephen J. Tapscott, Seth D. Friedman

    Published 2021-01-01
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  7. 67
    Multimodal Imaging Findings in Retinopathy Associated with Facioscapulohumeral Muscular Dystrophy before and after Treatment with Intravitreal Aflibercept and Laser Photocoagulation

    Multimodal Imaging Findings in Retinopathy Associated with Facioscapulohumeral Muscular Dystrophy before and after Treatment with Intravitreal Aflibercept and Laser Photocoagulation by Hiroshi Shimizu, Masaki Shimizu, Toshiya Nakano, Kousuke Noda, Masaki Tanito

    Published 2022-07-01
    Subjects: “…facioscapulohumeral muscular dystrophy…”
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    Article
  8. 68
    Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).

    Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD). by Mariaelena Pistoni, Lily Shiue, Melissa S Cline, Sergia Bortolanza, Maria Victoria Neguembor, Alexandros Xynos, Manuel Ares, Davide Gabellini

    Published 2013-01-01
    “…Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. …”
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    Article
  9. 69
    Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus.

    Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus. by Masaki Suimye Morioka, Miwako Kitazume, Ken Osaki, Jonathan Wood, Yujiro Tanaka

    Published 2016-01-01
    “…A majority of facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of macrosatellite repeats called D4Z4 that are located in the subtelomeric region of human chromosome 4q35. …”
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  10. 70
    Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

    Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy by Cinzia Bettio, Federico Banchelli, Valentina Salsi, Roberto Vicini, Oscar Crisafulli, Lucia Ruggiero, Giulia Ricci, Elisabetta Bucci, Corrado Angelini, Angela Berardinelli, Silvia Bonanno, Maria Grazia D’Angelo, Antonio Di Muzio, Massimiliano Filosto, Erica Frezza, Lorenzo Maggi, Tiziana Mongini, Elena Pegoraro, Carmelo Rodolico, Marina Scarlato, Gaetano Vattemi, Daniele Velardo, Giuliano Tomelleri, Roberto D’Amico, Giuseppe D’Antona, Rossella Tupler

    Published 2024-01-01
    “…Abstract Background In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. …”
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  11. 71
    Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

    Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping by Jieni Jiang, Jieni Jiang, Jieni Jiang, Xiaotang Cai, Xiaotang Cai, Haibo Qu, Haibo Qu, Qiang Yao, Qiang Yao, Tiantian He, Tiantian He, Tiantian He, Mei Yang, Mei Yang, Mei Yang, Hui Zhou, Hui Zhou, Xuemei Zhang, Xuemei Zhang, Xuemei Zhang

    Published 2024-02-01
    Subjects: “…facioscapulohumeral muscular dystrophy 1…”
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  12. 72
    Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome

    Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome by Sanne C.C. Vincenten, Karlien Mul, Daniël vanAs, Julia J. Jansen, Linda Heskamp, Arend Heerschap, Baziel G.M. vanEngelen, Nicol C. Voermans

    Published 2023-08-01
    “…Abstract Background It is unclear how changes in quantitative muscle magnetic resonance imaging (MRI) relate to changes in clinical outcome in facioscapulohumeral muscular dystrophy (FSHD), although this information is crucial for optimal use of MRI as imaging biomarker in trials. …”
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  13. 73
    Correction to: Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance

    Correction to: Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance by Edyta Blaszczyk, Ulrike Grieben, Florian von Knobelsdorff-Brenkenhoff, Peter Kellman, Luisa Schmacht, Stephanie Funk, Simone Spuler, Jeanette Schulz-Menger

    Published 2019-06-01
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  14. 74
    The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure

    The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure by Frusciante Roberto, Galluzzi Giuliana, Colantoni Luca, Ricci Enzo, Rossi Monica, Tonali Pietro A, Felicetti Luciano

    Published 2007-03-01
    “…Reduction in the number of D4Z4 repeats below a threshold of 10 at the 4q locus is tightly linked to Facioscapulohumeral Muscular Dystrophy (FSHD), while similar contractions at 10q locus, are not pathogenic. …”
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    Article
  15. 75
    Author Correction: Whole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy

    Author Correction: Whole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy by Linda Heskamp, Augustin Ogier, David Bendahan, Arend Heerschap

    Published 2023-01-01
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  16. 76
    P480: Validation of optical genome mapping as a laboratory-developed diagnostic test for facioscapulohumeral muscular dystrophy type 1

    P480: Validation of optical genome mapping as a laboratory-developed diagnostic test for facioscapulohumeral muscular dystrophy type 1 by Alex Hastie, Alka Chaubey, Karena Kosco, Arthi Sridhar

    Published 2023-01-01
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  17. 77
    Meeting report: the 2020 FSHD International Research Congress

    Meeting report: the 2020 FSHD International Research Congress by Michael Kyba, Robert J. Bloch, Julie Dumonceaux, Scott Q. Harper, Silvère M. van der Maarel, Francis M. Sverdrup, Kathryn R. Wagner, Baziel van Engelen, Yi-Wen Chen

    Published 2020-12-01
    Subjects: “…Facioscapulohumeral muscular dystrophy…”
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  18. 78
    Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

    Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis by Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler

    Published 2020-12-01
    “…Abstract Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. …”
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  19. 79
    Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1

    Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1 by Fuze Zheng, Long Chen, Liangliang Qiu, Lin Lin, Xin Lin, Qifang He, Lili Wang, Zhixian Ye, Minting Lin, Zhiqiang Wang

    Published 2022-04-01
    “…Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophy. …”
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  20. 80
    P742: Assessing stability of frozen samples for Bionano optical single DNA mapping for diagnosis of facioscapulohumeral muscular dystrophy type 1

    P742: Assessing stability of frozen samples for Bionano optical single DNA mapping for diagnosis of facioscapulohumeral muscular dystrophy type 1 by Sara Cook, Emily Lauer, Patrick Lundquist, Linda Hasadsri, Margherita Milone, Zhiyv Niu

    Published 2024-01-01
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