Hasil Pencarian - Ulrike Schara

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  1. 1
    Gene replacement therapy in spinal muscular atrophy: filling the data gaps

    Gene replacement therapy in spinal muscular atrophy: filling the data gaps oleh Tim Hagenacker, Ulrike Schara-Schmidt

    Diterbitkan 2024-02-01
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  2. 2
    Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy

    Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy oleh Richard S. Finkel, Ulrike Schara-Schmidt, Tim Hagenacker

    Diterbitkan 2020-07-01
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  3. 3
    Cerebellar-dependent associative learning is preserved in Duchenne muscular dystrophy: a study using delay eyeblink conditioning.

    Cerebellar-dependent associative learning is preserved in Duchenne muscular dystrophy: a study using delay eyeblink conditioning. oleh Ulrike Schara, Melanie Busse, Dagmar Timmann, Marcus Gerwig

    Diterbitkan 2015-01-01
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  4. 4
    Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.

    Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. oleh Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, Ulrike Schara

    Diterbitkan 2017-01-01
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  5. 5
    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process oleh Frederik Braun, Andrea Gangfuß, Petra Stöbe, Tobias B. Haack, Bernd Schweiger, Andreas Roos, Ulrike Schara

    Diterbitkan 2021-12-01
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  6. 6
    Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.

    Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. oleh Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, Ulrike Schara

    Diterbitkan 2017-01-01
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  7. 7
    Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

    Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening oleh Heike Kölbel, Laura Modler, Astrid Blaschek, Ulrike Schara-Schmidt, Katharina Vill, Oliver Schwartz, Wolfgang Müller-Felber

    Diterbitkan 2022-11-01
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  8. 8
    Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients

    Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients oleh Heike Kölbel, Denisa Hathazi, Denisa Hathazi, Matthew Jennings, Rita Horvath, Andreas Roos, Andreas Roos, Ulrike Schara

    Diterbitkan 2019-05-01
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  9. 9
    Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases

    Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases oleh Andreas Hentschel, Artur Czech, Ute Münchberg, Erik Freier, Ulrike Schara-Schmidt, Albert Sickmann, Jens Reimann, Andreas Roos

    Diterbitkan 2021-02-01
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  10. 10
    ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies

    ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies oleh Jon Christiansen, Anne-Katrin Güttsches, Ulrike Schara-Schmidt, Matthias Vorgerd, Christoph Heute, Corinna Preusse, Werner Stenzel, Andreas Roos

    Diterbitkan 2022-11-01
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  11. 11
    Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study

    Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study oleh Adela Della Marina, Eva Wibbeler, Angela Abicht, Angela Abicht, Heike Kölbel, Hanns Lochmüller, Hanns Lochmüller, Hanns Lochmüller, Andreas Roos, Ulrike Schara

    Diterbitkan 2020-12-01
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  12. 12
    Essen transition model for neuromuscular diseases

    Essen transition model for neuromuscular diseases oleh Michael Fleischer, Bayram Coskun, Benjamin Stolte, Adela Della-Marina, Heike Kölbel, Hildegard Lax, Michael Nonnemacher, Christoph Kleinschnitz, Ulrike Schara-Schmidt, Tim Hagenacker

    Diterbitkan 2022-09-01
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  13. 13
    Microscopic and Biochemical Hallmarks of <i>BICD2</i>-Associated Muscle Pathology toward the Evaluation of Novel Variants

    Microscopic and Biochemical Hallmarks of <i>BICD2</i>-Associated Muscle Pathology toward the Evaluation of Novel Variants oleh Andreas Unger, Andreas Roos, Andrea Gangfuß, Andreas Hentschel, Dieter Gläser, Karsten Krause, Kristina Doering, Ulrike Schara-Schmidt, Sabine Hoffjan, Matthias Vorgerd, Anne-Katrin Güttsches

    Diterbitkan 2023-04-01
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  14. 14
    Analysis of Free Circulating Messenger Ribonucleic Acids in Serum Samples from Late-Onset Spinal Muscular Atrophy Patients Using nCounter NanoString Technology

    Analysis of Free Circulating Messenger Ribonucleic Acids in Serum Samples from Late-Onset Spinal Muscular Atrophy Patients Using nCounter NanoString Technology oleh Markus Leo, Linda-Isabell Schmitt, Fabian Mairinger, Andreas Roos, Christina Hansmann, Stefanie Hezel, Jelena Skuljec, Refik Pul, Ulrike Schara-Schmidt, Christoph Kleinschnitz, Tim Hagenacker

    Diterbitkan 2023-09-01
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  15. 15
    A Sum Score to Define Therapy-Refractory Myasthenia Gravis: A German Consensus

    A Sum Score to Define Therapy-Refractory Myasthenia Gravis: A German Consensus oleh Michael Schroeter, Benjamin Berger, Franz Blaes, Tim Hagenacker, Sebastian Jander, Julia Kaiser, Petra Kalischewski, De-Hyung Lee, Tobias Ruck, Ulrike Schara, Peter Urban, Andreas Meisel

    Diterbitkan 2021-02-01
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  16. 16
    Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome

    Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome oleh Celine Chiu, Alma Küchler, Christel Depienne, Corinna Preuße, Adela Della Marina, Andre Reis, Frank J. Kaiser, Kay Nolte, Andreas Hentschel, Ulrike Schara-Schmidt, Heike Kölbel, Andreas Roos

    Diterbitkan 2024-07-01
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  17. 17
    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 oleh Astrid Pechmann, Kirsten König, Günther Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Vogt, Maggie C. Walter, Hanns Lochmüller, Janbernd Kirschner

    Diterbitkan 2019-01-01
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  18. 18
    Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy

    Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy oleh Adela Della Marina, Marc Pawlitzki, Tobias Ruck, Andreas van Baalen, Nadine Vogt, Bernd Schweiger, Swantje Hertel, Heike Kölbel, Heinz Wiendl, Corinna Preuße, Andreas Roos, Ulrike Schara-Schmidt

    Diterbitkan 2021-08-01
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  19. 19
    Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy.

    Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy. oleh Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S. Cowling, G. Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte

    Diterbitkan 2013-06-01
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  20. 20
    Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

    Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS oleh Frederik Braun, Andreas Hentschel, Albert Sickmann, Theodore Marteau, Swantje Hertel, Fabian Förster, Holger Prokisch, Matias Wagner, Saskia Wortmann, Adela Della Marina, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt

    Diterbitkan 2021-07-01
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