Risultati della ricerca - Matias Wagner
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SÍNDROME DE OLLIER: UMA REVISÃO NARRATIVA di Caroline Pegorini Hollerweger, Caroline Da Costa, Tiago de Matias Wagner, Ariana Centa
Pubblicazione 2023Artigo -
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Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease di 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
Pubblicazione 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 di 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
Pubblicazione 2017Artigo -
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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis di 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
Pubblicazione 2019Artigo -
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Early-onset phenotype of bi-allelic <i>GRN</i> mutations di 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
Pubblicazione 2020Carta -
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INFLUÊNCIA DO EXERCÍCIO FÍSICO NOS SISTEMAS CORPÓREOS di 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
Pubblicazione 2024Artigo -
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Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy di 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
Pubblicazione 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 di 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
Pubblicazione 2019Artigo -
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Episignature analysis of moderate effects and mosaics di 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
Pubblicazione 2023Artigo -
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Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy di 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
Pubblicazione 2022Artigo -
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Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset di 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
Pubblicazione 2021Artigo -
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia di Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Fayçal Hentati, Maryam M. Hockley, Benedikt V. Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller‐Felber, Ege Ozkan, Sergio Padilla-López, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Züchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle
Pubblicazione 2019Artigo
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Soggetti correlati
Biology
Medicine
Genetics
Gene
Phenotype
Disease
Mutation
Internal medicine
Pathology
Exome sequencing
Neuroscience
Allele
Bioinformatics
Exome
Neurodevelopmental disorder
Psychiatry
Computational biology
Dystonia
Environmental health
Genotype-phenotype distinction
Missense mutation
Pediatrics
Population
Biomarker
DNA
DNA sequencing
Gene expression
Genetic heterogeneity
Genotype
Haploinsufficiency