檢索結果 - Tobias Lindig
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DeepCEST 3T: Robust MRI parameter determination and uncertainty quantification with neural networks—application to CEST imaging of the human brain at 3T 由 Felix Glang, A Deshmane, Sergey Prokudin, Florian Martin, Kai Herz, Tobias Lindig, Benjamin Bender, Klaus Scheffler, Moritz Zaiß
出版 2019Artigo -
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X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation 由 Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B. Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck‐Wödl, Sander B. Nabuurs, André B. P. Kuilenburg, Arjan PM de Brouwer, Lüdger Schöls
出版 2014Artigo -
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Motor protein mutations cause a new form of hereditary spastic paraplegia 由 Andrés Caballero-Oteyza, Esra Battaloğlu, Levent Öcek, Tobias Lindig, Jennifer Reichbauer, Adriana Rebelo, Michael Gonzalez, Yaşar Zorlu, Burçak Özeş, Dagmar Timmann, Benjamin Bender, Günther Woehlke, Stephan Züchner, Lüdger Schöls, Rebecca Schüle
出版 2014Artigo -
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Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta 由 Lutz Garbes, Kyung‐Ho Kim, Angelika Rieß, Heike Hoyer‐Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim, Yang Hoon Huh, Hee-Seok Kweon, Ravi Savarirayan, David J. Amor, Purvi M. Kakadia, Tobias Lindig, Karl Oliver Kagan, Jutta Becker, Simeon A. Boyadjiev, Bernd Wollnik, Oliver Semler, Stefan K. Bohlander, Jin Oh Kim, Christian Netzer
出版 2015Artigo -
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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications 由 Tim W. Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Anne S. Söhn, Konstanze Hörtnagel, Kathrin N. Eckstein, Sarah Wiethoff, Jennifer Reichbauer, Marion Döbler‐Neumann, Ingeborg Krägeloh‐Mann, Michaela Auer‐Grumbach, Barbara Plecko, Alexander Münchau, Bernd Wilken, Marc Janauschek, Anne‐Katrin Giese, Jan De Bleecker, Els Ortibus, Martine Debyser, Adolfo López de Munaín, Aurora Pujol, Maria Teresa Bassi, Maria Grazia D’Angelo, Peter De Jonghe, Stephan Züchner, Peter Bauer, Lüdger Schöls, Rebecca Schüle
出版 2019Artigo -
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Spinal cord damage in Friedreich’s ataxia: Results from the ENIGMA-Ataxia 由 Thiago Junqueira Ribeiro de Rezende, Isaac Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A. Corben, Andreas Deistung, Martin B. Delatycki, Imis Dogan, Gary F. Egan, Sophia Göricke, Nellie Georgiou‐Karistianis, Pierre‐Gilles Henry, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Tobias Lindig, Alberto RM Martinez, Andrea Martinuzzi, Gabriella Paparella, Denis Peruzzo, Kathrin Reetz, Sandro Romanzetti, Lüdger Schöls, Jörg B. Schulz, Matthis Synofzik, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Ian H. Harding, Marcondes C. França
出版 2022Pré-impressão -
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Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from <scp>ENIGMA‐Ataxia</scp> 由 Thiago Junqueira Ribeiro de Rezende, Isaac Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A. Corben, Andreas Deistung, Martin B. Delatycki, Imis Dogan, Gary F. Egan, Sophia Göricke, Nellie Georgiou‐Karistianis, Pierre‐Gilles Henry, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Tobias Lindig, Alberto Martínez, Andrea Martinuzzi, Gabriella Paparella, Denis Peruzzo, Kathrin Reetz, Sandro Romanzetti, Lüdger Schöls, Jörg B. Schulz, Matthis Synofzik, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Ian H. Harding, Marcondes C. França
出版 2022Artigo -
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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia 由 Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S. Soehn, Jennifer Reichbauer, Feifei Tao, Tim W. Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann‐Heimbach, Garth A. Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D. Mathews, Michael E. Shy, Peter De Jonghe, Patrick F. Chinnery, Rita Horváth, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Lüdger Schöls, Peter Nürnberg, Stephan Züchner, Thomas Klockgether, Alfredo Ramı́rez, Rebecca Schüle
出版 2017Artigo
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