檢索結果 - Benedikt Schoser

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  1. 1
    Myofibrillar Myopathies: A Clinical and Myopathological Guide

    Myofibrillar Myopathies: A Clinical and Myopathological Guide 由 Rolf Schröder, Benedikt Schoser

    出版 2009
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  2. 2
    Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms

    Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms 由 Benedikt Schoser, Lubov Timchenko

    出版 2010
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  3. 3
    The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?

    The clinical relevance of outcomes used in late-onset Pompe disease: can we do better? 由 Robin Lachmann, Benedikt Schoser

    出版 2013
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  4. 4
    Therapeutic Approaches in Glycogen Storage Disease Type II/Pompe Disease

    Therapeutic Approaches in Glycogen Storage Disease Type II/Pompe Disease 由 Benedikt Schoser, Victoria Hill, Nina Raben

    出版 2008
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  5. 5
    Core Clinical Phenotypes in Myotonic Dystrophies

    Core Clinical Phenotypes in Myotonic Dystrophies 由 Stephan Wenninger, Federica Montagnese, Benedikt Schoser

    出版 2018
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  6. 6
    Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

    Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V) 由 Rosaline C. M. Quinlivan, Andrea Martinuzzi, Benedikt Schoser

    出版 2014
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  7. 7
    Myotonic Dystrophy—A Progeroid Disease?

    Myotonic Dystrophy—A Progeroid Disease? 由 Peter Meinke, Stefan Hintze, Sarah Limmer, Benedikt Schoser

    出版 2018
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  8. 8
    CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review

    CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review 由 Haris Babačić, Aditi Mehta, Olivia M. Merkel, Benedikt Schoser

    出版 2019
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  9. 9
    Molecular biomarkers monitoring human skeletal muscle fibres and microvasculature following long‐term bed rest with and without countermeasures

    Molecular biomarkers monitoring human skeletal muscle fibres and microvasculature following long‐term bed rest with and without countermeasures 由 Michele Salanova, Gudrun Schiffl, Britta Püttmann, Benedikt Schoser, Dieter Blottner

    出版 2008
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  10. 10
    Reduction of the Rate of Protein Translation in Patients with Myotonic Dystrophy 2

    Reduction of the Rate of Protein Translation in Patients with Myotonic Dystrophy 2 由 Claudia Huichalaf, Benedikt Schoser, Christiane Schneider‐Gold, Bingwen Jin, Partha S. Sarkar, Lubov Timchenko

    出版 2009
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  11. 11
    DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression

    DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression 由 Jamie Margolis, Benedikt Schoser, Melinda L. Moseley, John Day, Laura P.W. Ranum

    出版 2006
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  12. 12
    The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

    The humanistic burden of Pompe disease: are there still unmet needs? A systematic review 由 Benedikt Schoser, Deborah A. Bilder, David Dimmock, Digant Gupta, Emma James, Suyash Prasad

    出版 2017
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  13. 13
    Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease

    Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease 由 Benedikt Schoser, Shahram Attarian, Ryan Graham, Fred Holdbrook, Mitchell H. Goldman, Jordi Díaz‐Manera

    出版 2025
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  14. 14
    Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review

    Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review 由 Roberto Giugliani, Francisca Solomon, Hani Kushlaf, Erica Wright, Tmirah Haselkorn, Edmar Zanoteli, Benedikt Schoser

    出版 2025
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  15. 15
    Myotonic dystrophy type 2 (DM2) and related disorders

    Myotonic dystrophy type 2 (DM2) and related disorders 由 Bjarne Udd, G. Meola, Ralf Krahe, Derick G. Wansink, Guillaume Bassez, Wolfram Kreß, Benedikt Schoser, Richard T. Moxley

    出版 2011
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  16. 16
    Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies

    Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies 由 Anna Krasnianski, Marcus Deschauer, Stephan Neudecker, Frank N. Gellerich, Tobias Müller, Benedikt Schoser, Michael Krasnianski, Stephan Zierz

    出版 2005
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  17. 17
    Management of presymptomatic juvenile patients with Late-Onset Pompe Disease (LOPD)

    Management of presymptomatic juvenile patients with Late-Onset Pompe Disease (LOPD) 由 Mattia Porcino, Olimpia Musumeci, Cristian Usbergo, Anna Maria Pugliese, Ilaria Arena, Carmelo Rodolico, Benedikt Schoser, António Toscano

    出版 2025
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  18. 18
    High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

    High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany 由 T. Suominen, Benedikt Schoser, O. Raheem, S. Auvinen, Maria Emília M. T. Walter, Ralf Krahe, Hanns Lochmüller, Wolfram Kreß, Bjarne Udd

    出版 2008
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  19. 19
    Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

    Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract 由 Christina L. Liquori, Yoshio Ikeda, Marcy R. Weatherspoon, K. Ricker, Benedikt Schoser, Joline Dalton, John Day, Laura P.W. Ranum

    出版 2003
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  20. 20
    Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1

    Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1 由 Elizabeth Salisbury, Keiko Sakai, Benedikt Schoser, Claudia Huichalaf, Christiane Schneider‐Gold, Heather Nguyen, Gou-Li Wang, Jeffrey H. Albrecht, Lubov Timchenko

    出版 2008
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