Hasil Pencarian - Thomas Sejersen

  • Menampilkan 1 - 8 hasil dari 8
Perbaiki Hasil
  1. 1
    The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden

    The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi met... oleh Tanja Golli, Lenka Juříková, Thomas Sejersen, Craig Dixon

    Diterbitkan 2024-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    “Suddenly we have hope that there is a future”: two families’ narratives when a child with spinal muscular atrophy receives a new drug

    “Suddenly we have hope that there is a future”: two families’ narratives when a child with spinal muscular atrophy receives a new drug oleh Elin Hjorth, Malin Lövgren, Ulrika Kreicbergs, Thomas Sejersen, Eric Asaba

    Diterbitkan 2021-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Time- and Ventricular-Specific Expression Profiles of Genes Encoding Z-Disk Proteins in Pressure Overload Model of Left Ventricular Hypertrophy

    Time- and Ventricular-Specific Expression Profiles of Genes Encoding Z-Disk Proteins in Pressure Overload Model of Left Ventricular Hypertrophy oleh Anastasia Knyazeva, Alexander Krutikov, Alexey Golovkin, Alexander Mishanin, Georgii Pavlov, Natalia Smolina, Natalia Smolina, Anastasia Hushkina, Thomas Sejersen, Gunnar Sjoberg, Mikhail Galagudza, Anna Kostareva, Anna Kostareva

    Diterbitkan 2019-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

    Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disord... oleh Marlene Ek, Marlene Ek, Daniel Nilsson, Daniel Nilsson, Daniel Nilsson, Martin Engvall, Martin Engvall, Helena Malmgren, Helena Malmgren, Håkan Thonberg, Håkan Thonberg, Maria Pettersson, Maria Pettersson, Britt-Marie Anderlid, Britt-Marie Anderlid, Anna Hammarsjö, Anna Hammarsjö, Hafdis T. Helgadottir, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Karin Naess, Inger Nennesmo, Martin Paucar, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Göran Solders, Thomas Sejersen, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Malin Kvarnung, Malin Kvarnung

    Diterbitkan 2023-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.

    Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. oleh Anna Kostareva, Artem Kiselev, Alexandra Gudkova, Goar Frishman, Andreas Ruepp, Dmitrij Frishman, Natalia Smolina, Svetlana Tarnovskaya, Daniel Nilsson, Anna Zlotina, Tatiana Khodyuchenko, Tatiana Vershinina, Tatiana Pervunina, Alexandra Klyushina, Andrey Kozlenok, Gunnar Sjoberg, Irina Golovljova, Thomas Sejersen, Eugeniy Shlyakhto

    Diterbitkan 2016-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments.

    Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments. oleh Diana Cimiotti, Setsuko Fujita-Becker, Desirée Möhner, Natalia Smolina, Heidi Budde, Aline Wies, Lisa Morgenstern, Alexandra Gudkova, Thomas Sejersen, Gunnar Sjöberg, Andreas Mügge, Marc M Nowaczyk, Peter Reusch, Gabriele Pfitzer, Robert Stehle, Rasmus R Schröder, Hans G Mannherz, Anna Kostareva, Kornelia Jaquet

    Diterbitkan 2020-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy

    Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy oleh Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Alexey Sergushichev, Renata Dmitrieva, Aleksandr Khudiakov, John Jorholt, Natalia Smolina, Natalia Smolina, Ksenia Sukhareva, Yulia Fomicheva, Evgeny Mikhaylov, Lubov Mitrofanova, Alexander Predeus, Alexander Predeus, Gunnar Sjoberg, Dmitriy Rudenko, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Anna Kostareva, Anna Kostareva

    Diterbitkan 2019-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

    Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions oleh Montse Olivé, Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Di Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell, Nigel G. Laing

    Diterbitkan 2019-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: