檢索結果 - Matias Wagner
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Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease 由 Matias Wagner, Riccardo Berutti, Bettina Lorenz‐Depiereux, Elisabeth Graf, Gertrud Eckstein, Johannes A. Mayr, Thomas Meitinger, Uwe Ahting, Holger Prokisch, Tim M. Strom, Saskia B. Wortmann
出版 2019Artigo -
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Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum 由 Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch‐Klupp, Jakob Rath, Matias Wagner, Tobias B. Haack, Tim M. Strom, Anne Schänzer, Manfred W. Kilimann, Ralf Schmidt, Klaus G. Schmetterer, Alexander Zimprich, Kaan Boztuğ, Andreas Hahn, Fritz Zimprich
出版 2017Artigo -
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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis 由 Mirjana Gušić, Gudrun Schottmann, René G. Feichtinger, Chen Du, Caroline Scholz, Matias Wagner, Johannes A. Mayr, Chae-Young Lee, Vicente A. Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M. Panneman, Agnès Rötig, Richard J. Rodenburg, Saskia B. Wortmann, Holger Prokisch, Markus Schuelke
出版 2019Artigo -
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Early-onset phenotype of bi-allelic <i>GRN</i> mutations 由 Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C. França, Birgit Assmann, Matias Wagner, Laura Canafoglia, Silvana Franceschetti, Giacomina Rossi, Isabel Santana, Carmo Macário, Maria Rosário Almeida, Mahesh Kamate, Sumit Parikh, Houda Zghal Elloumi, David Murphy, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden
出版 2020Carta -
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INFLUÊNCIA DO EXERCÍCIO FÍSICO NOS SISTEMAS CORPÓREOS 由 Beatriz Colombo Molina, Alex Moreira Souza, André Gustavo Aurélio Coelho, Andressa Sipriano, Galileu Valiati Pimentel de Medeiros, Isadora Pavanelli Matosinhos, Kauara Marcelino Gonçalves, Nei Carlos Santin, Paulo Martins Marton Moraes, Scyonara Cordeiro de Carvalho, Tiago de Matias Wagner, Daniel Kobayashi Colombo, Ânari Pereira Pieczarka
出版 2024Artigo -
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Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy 由 Matias Wagner, Géza Berecki, Walid Fazeli, Claudia Nußbaum, Andreas W. Flemmer, Silvana Frizzo, F. Heer, Florian Heinen, Robert Horton, Henry Jacotin, WILLIAM G. MOTEL, Brian D. Spar, Christoph Klein, Corinna Siegel, Christoph Hübener, Sophia Stöcklein, Marco Paolini, Martin Staudt, Moritz Tacke, Markus Wolff, Steven Petrou, Marcio Souza, Ingo Borggraefe
出版 2025Artigo -
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Opposite microglial activation stages upon loss of <scp>PGRN</scp> or <scp>TREM</scp> 2 result in reduced cerebral glucose metabolism 由 Julia K Götzl, Matthias Brendel, Georg Werner, Samira Parhizkar, Laura Sebastián Monasor, Gernot Kleinberger, Alessio-Vittorio Colombo, Maximilian Deußing, Matias Wagner, Juliane Winkelmann, Janine Diehl‐Schmid, Johannes Levin, Katrin Fellerer, Anika Reifschneider, Sebastian Bultmann, Peter Bartenstein, Axel Rominger, Sabina Tahirović, Scott T. Smith, Charlotte Madore, Oleg Butovsky, Anja Capell, Christian Haass
出版 2019Artigo -
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Episignature analysis of moderate effects and mosaics 由 Konrad Oexle, Michael Zech, Lara G. Stühn, Sandy Siegert, Theresa Brunet, Wolfgang M. Schmidt, Matias Wagner, Axel Schmidt, Hartmut Engels, Erik Tilch, Olivier Monestier, Anne Destrèe, Britta Hanker, Sylvia Boesch, Robert Jech, Riccardo Berutti, Frank J. Kaiser, Bernhard Haslinger, Tobias B. Haack, Barbara Garavaglia, Peter Krawitz, Juliane Winkelmann, Nazanin Mirza‐Schreiber
出版 2023Artigo -
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Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy 由 Patrick Oeckl, Sarah Anderl‐Straub, Adrian Danek, Janine Diehl‐Schmid, Klaus Faßbender, Klaus Fließbach, Steffen Halbgebauer, Hans‐Jürgen Huppertz, Holger Jahn, Jan Kassubek, Johannes Kornhuber, G. Bernhard Landwehrmeyer, Martin Lauer, Johannes Prudlo, Anja Schneider, Matthias L. Schroeter, Petra Steinacker, Alexander E. Volk, Matias Wagner, Juliane Winkelmann, Jens Wiltfang, Albert C. Ludolph, Markus Otto
出版 2022Artigo -
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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 由 Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, Silvia Giovedı̀, Annette Seibt, Daniella Magen, Tilman Polster, Ayelet Eran, Sarah L. Stenton, Chiara Fiorillo, Sarit Ravid, Ertan Mayatepek, Hava Hafner, Saskia B. Wortmann, Erez Y. Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier, Anna Fassio, Renzo Guerrini
出版 2019Artigo -
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Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset 由 Nazanin Mirza‐Schreiber, Michael Zech, Rory Wilson, Theresa Brunet, Matias Wagner, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Ján Necpál, David Weise, Sandrina Weber, Brit Mollenhauer, Claudia Trenkwalder, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Annette Hackenberg, Veronika Pilshofer, Urania Kotzaeridou, Eva Maria Christina Schwaibold, Julia Hoefele, Mélanie Waldenberger, Christian Gieger, Annette Peters, Thomas Meitinger, Barbara Schormair, Juliane Winkelmann, Konrad Oexle
出版 2021Artigo
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