Torthaí cuardaigh - Janbernd Kirschner

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  1. 1
    Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

    Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care de réir David Schorling, Astrid Pechmann, Janbernd Kirschner

    Foilsithe / Cruthaithe 2019
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  2. 2
    Duchenne muscular dystrophy and caregiver burden: a systematic review

    Duchenne muscular dystrophy and caregiver burden: a systematic review de réir Erik Landfeldt, Josefin Edström, Filippo Buccella, Janbernd Kirschner, Hanns Lochmüller

    Foilsithe / Cruthaithe 2018
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  3. 3
    Mitochondrial Tubulopathy in Tenofovir Disoproxil Fumarate-Treated Rats

    Mitochondrial Tubulopathy in Tenofovir Disoproxil Fumarate-Treated Rats de réir Dirk Lebrecht, Ana C Venhoff, Janbernd Kirschner, Thorsten Wiech, Nils Venhoff, Ulrich A. Walker

    Foilsithe / Cruthaithe 2009
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  4. 4
    Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

    Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis de réir Erik Landfeldt, Rachel Thompson, Thomas Sejersen, Hugh J. McMillan, Janbernd Kirschner, Hanns Lochmüller

    Foilsithe / Cruthaithe 2020
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  5. 5
    Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec –A Single Centre Experience

    Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec –A Single Centre Experience de réir Johannes Friese, Stephanie Geitmann, Dorothea Holzwarth, Nicole Müller, Robert Sassen, Ute Baur, Kristin Adler, Janbernd Kirschner

    Foilsithe / Cruthaithe 2021
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  6. 6
    Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

    Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis de réir Erik Landfeldt, Alicia Alemán, Sophia Abner, Rongrong Zhang, Christian Werner, Ioannis Tomazos, Nermina Ferizović, Hanns Lochmüller, Janbernd Kirschner

    Foilsithe / Cruthaithe 2024
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  7. 7
    Adult care for Duchenne muscular dystrophy in the UK

    Adult care for Duchenne muscular dystrophy in the UK de réir Sunil Rodger, Katherine L. Woods, Catherine L. Bladen, Angela Stringer, Julia Vry, K. Gramsch, Janbernd Kirschner, Rachel Thompson, K. Bushby, Hanns Lochmüller

    Foilsithe / Cruthaithe 2014
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  8. 8
    A multi-source approach to determine SMA incidence and research ready population

    A multi-source approach to determine SMA incidence and research ready population de réir Ingrid E.C. Verhaart, Agata Robertson, Rebecca Leary, Grace McMacken, Kirsten König, Janbernd Kirschner, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller

    Foilsithe / Cruthaithe 2017
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  9. 9
    Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study

    Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study de réir Maggie C. Walter, Stephan Wenninger, Simone Thiele, Julia M. Stauber, Miriam Hiebeler, Eva Greckl, Kristina Ståhl, Astrid Pechmann, Hanns Lochmüller, Janbernd Kirschner, Benedikt Schoser

    Foilsithe / Cruthaithe 2019
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  10. 10
    SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

    SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy de réir Astrid Pechmann, Kirsten König, G. Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Emilie Vogt, Maggie C. Walter, Hanns Lochmüller, Janbernd Kirschner

    Foilsithe / Cruthaithe 2019
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  11. 11
    Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

    Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany de réir Astrid Pechmann, Thorsten Langer, David Schorling, Sabine Stein, Sibylle Emilie Vogt, Ulrike Schara, Heike Kölbel, Oliver Schwartz, Andreas Hahn, Kerstin Giese, Jessika Johannsen, Jonas Denecke, Claudia Weiß, Manuela Theophil, Janbernd Kirschner

    Foilsithe / Cruthaithe 2018
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  12. 12
    European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

    European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy de réir Janbernd Kirschner, Nina Butoianu, Nathalie Goemans, Jana Haberlová, Anna Kostera‐Pruszczyk, Eugenio Mercuri, W. Ludo van der Pol, Susana Quijano‐Roy, Thomas Sejersen, Eduardo F. Tizzano, Andreas Ziegler, Laurent Servais, Francesco Muntoni

    Foilsithe / Cruthaithe 2020
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  13. 13
    JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam

    JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam de réir Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera‐Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martín, R. Scalco, Paulo Fontoura, Francesco Muntoni

    Foilsithe / Cruthaithe 2024
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  14. 14
    Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

    Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification de réir Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais

    Foilsithe / Cruthaithe 2023
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  15. 15
    Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies

    Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies de réir Magdolna Nagy, Tom G. Mastenbroek, Nadine J.A. Mattheij, Susanne Witt, Kenneth J. Clemetson, Janbernd Kirschner, Ansgar Schulz, Thomas Vraetz, Carsten Speckmann, Attila Braun, Judith M.E.M. Cosemans, Barbara Zieger, Johan W. M. Heemskerk

    Foilsithe / Cruthaithe 2017
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  16. 16
    A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

    A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies de réir Marina Bartsakoulia, Angela Pyle, Diego Troncoso-Chandía, Josefa Vial-Brizzi, Marysol V. Paz-Fiblas, Jennifer Duff, Helen Griffin, Veronika Boczonadi, Hanns Lochmüller, Stephanie Kleinle, Patrick F. Chinnery, Sarah C. Grünert, Janbernd Kirschner, Verónica Eisner, Rita Horváth

    Foilsithe / Cruthaithe 2018
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  17. 17
    ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

    ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia de réir Christie‐Ann McCarl, Capucine Pïcard, Sara Khalil, Takumi Kawasaki, Jens Röther, Alexander Papolos, Jeffery L. Kutok, Claire Hivroz, F Ledeist, Katrin Plogmann, Stephan Ehl, Gundula Notheis, Michael H. Albert, Bernd H. Belohradsky, Janbernd Kirschner, Anjana Rao, Alain Fischer, Stefan Feske

    Foilsithe / Cruthaithe 2009
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  18. 18
    Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

    Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim... de réir Eugenio Mercuri, A. Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, M. Tulinius, Maria Bernadete Dutra de Resende, Lauren P. Morgenroth, Heather Gordish‐Dressman, Shelley Johnson, Allan Kristensen, Christian Werner, Panayiota Trifillis, Erik Henricson, Craig M. McDonald

    Foilsithe / Cruthaithe 2023
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  19. 19
    Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

    Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022)... de réir Eugenio Mercuri, A. Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, M. Tulinius, Maria Bernadete Dutra de Resende, Lauren P. Morgenroth, Heather Gordish‐Dressman, Shelley Johnson, Allan Kristensen, Christian Werner, Panayiota Trifillis, Erik Henricson, Craig M. McDonald

    Foilsithe / Cruthaithe 2023
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  20. 20
    A Combined Laser Microdissection and Mass Spectrometry Approach Reveals New Disease Relevant Proteins Accumulating in Aggregates of Filaminopathy Patients

    A Combined Laser Microdissection and Mass Spectrometry Approach Reveals New Disease Relevant Proteins Accumulating in Aggregates of Filaminopathy Patients de réir Rudolf A. Kley, A. Maerkens, Yvonne Leber, Verena Theis, Anja Schreiner, Peter F. M. van der Ven, Julian Uszkoreit, Christoph Stephan, Stefan Eulitz, Nicole Euler, Janbernd Kirschner, Klaus Müller, Helmut E. Meyer, Martin Tegenthoff, Dieter O. Fürst, Matthias Vorgerd, Thorsten Müller, Katrin Marcus

    Foilsithe / Cruthaithe 2012
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