Works by Schäfer, Jochen


Results: 27
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    Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.

    Published in:
    Journal of Neurology, 2020, v. 267, n. 3, p. 770, doi. 10.1007/s00415-019-09640-2
    By:
    • Trinh, Joanne;
    • Imhoff, Sophie;
    • Dulovic-Mahlow, Marija;
    • Kandaswamy, Krishna Kumar;
    • Tadic, Vera;
    • Schäfer, Jochen;
    • Dobricic, Valerija;
    • Nolte, Achim;
    • Werber, Martin;
    • Rolfs, Arndt;
    • Münchau, Alexander;
    • Klein, Christine;
    • Lohmann, Katja;
    • Brüggemann, Norbert
    Publication type:
    Article
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    Expanded phenotypic spectrum of the m.8344A>G 'MERRF' mutation: data from the German mitoNET registry.

    Published in:
    Journal of Neurology, 2016, v. 263, n. 5, p. 961, doi. 10.1007/s00415-016-8086-3
    By:
    • Altmann, Judith;
    • Büchner, Boriana;
    • Nadaj-Pakleza, Aleksandra;
    • Schäfer, Jochen;
    • Jackson, Sandra;
    • Lehmann, Diana;
    • Deschauer, Marcus;
    • Kopajtich, Robert;
    • Lautenschläger, Ronald;
    • Kuhn, Klaus;
    • Karle, Kathrin;
    • Schöls, Ludger;
    • Schulz, Jörg;
    • Weis, Joachim;
    • Prokisch, Holger;
    • Kornblum, Cornelia;
    • Claeys, Kristl;
    • Klopstock, Thomas
    Publication type:
    Article
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    Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

    Published in:
    2019
    By:
    • Stavusis, Janis;
    • Lace, Baiba;
    • Schäfer, Jochen;
    • Geist, Janelle;
    • Inashkina, Inna;
    • Kidere, Dita;
    • Pajusalu, Sander;
    • Wright, Nathan T.;
    • Saak, Annika;
    • Weinhold, Manja;
    • Haubenberger, Dietrich;
    • Jackson, Sandra;
    • Kontrogianni‐Konstantopoulos, Aikaterini;
    • Bönnemann, Carsten G.;
    • Kontrogianni-Konstantopoulos, Aikaterini
    Publication type:
    journal article
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    Surge solution.

    Published in:
    TCE: The Chemical Engineer, 2007, n. 793, p. 26
    By:
    • Thiemeier, Thomas;
    • Westphal, Frank;
    • Schäfer, Jochen
    Publication type:
    Article
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    Mitochondrial Cytopathies.

    Published in:
    Journal of Neurology, 2003, v. 250, n. 3, p. 267, doi. 10.1007/s00415-003-0978-3
    By:
    • Schmiedel, Janet;
    • Jackson, Sandra;
    • Schäfer, Jochen;
    • Reichmann, Heinz
    Publication type:
    Article
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