檢索結果 - Bernhard Haslinger
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The Link between Facial Feedback and Neural Activity within Central Circuitries of Emotion—New Insights from Botulinum Toxin–Induced Denervation of Frown Muscles 由 Andreas Hennenlotter, Christian Dresel, Florian Castrop, Andrés Ceballos-Baumann, Afra M. Wohlschläger, Bernhard Haslinger
出版 2008Artigo -
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Diagnostic exome sequencing in early‐onset Parkinson's disease confirms <i>VPS13C</i> as a rare cause of autosomal‐recessive Parkinson's disease 由 Barbara Schormair, David Kemlink, Brit Mollenhauer, Ondřej Fiala, Gerrit Machetanz, Jan Roth, Riccardo Berutti, Tim M. Strom, Bernhard Haslinger, Claudia Trenkwalder, Daniela Záhoráková, Pavel Martásek, Evžen Růžička, Juliane Winkelmann
出版 2017Artigo -
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Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia 由 Michael Zech, Daniel D. Lam, Ludmila Francescatto, Barbara Schormair, Aaro V. Salminen, Angela Jochim, Thomas Wieland, Peter Lichtner, Annette Peters, Christian Gieger, Hanns Lochmüller, Tim M. Strom, Bernhard Haslinger, Nicholas Katsanis, Juliane Winkelmann
出版 2015Artigo -
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Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia 由 Michael Zech, Sylvia Boesch, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Franco Laccone, Veronika Pilshofer, Andrés Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti, Werner Poewe, Tobias B. Haack, Bernhard Haslinger, Tim M. Strom, Juliane Winkelmann
出版 2016Artigo -
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Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders 由 Michael Zech, Georg Nübling, Florian Castrop, Angela Jochim, Eva C. Schulte, Brit Mollenhauer, Peter Lichtner, Annette Peters, Christian Gieger, Thorsten Marquardt, Marie T. Vanier, Philippe Latour, Hans H. Klünemann, Claudia Trenkwalder, Janine Diehl‐Schmid, Robert Perneczky, Thomas Meitinger, Konrad Oexle, Bernhard Haslinger, Stefan Lorenzl, Juliane Winkelmann
出版 2013Artigo -
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Long-term efficacy and safety of incobotulinumtoxinA injections in patients with cervical dystonia 由 Dirk Dressler, Sebastian Paus, Andrea Seitzinger, B Gebhardt, Andreas Kupsch, U. Böck, Andrés Ceballos-Baumann, R. Dengler, Markus Ebke, J. Hagenah, Bernhard Haslinger, Martin Hecht, Gunhild Heide, Simon Hellwig, Andreas Kupsch, Sebastian Paus, Johannes Schiefer, Alexander Storch, P. Vieregge, Thomas Vogt, Jens Volkmann, H. Woldag
出版 2013Artigo -
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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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Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities... 由 Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann
出版 2020Artigo -
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Efficacy and Safety of DaxibotulinumtoxinA for Injection in Cervical Dystonia 由 Cynthia Comella, Joseph Jankovic, Robert A. Hauser, Atul T. Patel, Marta Banach, Edvard Ehler, Domenico Vitarella, Roman G. Rubio, Todd M. Gross, Philipp Albrecht, Richard L. Barbano, Norman Bettle, Sylvia Bösch, Françoise Bouhour, James Boyd, Giovanni Castelnovo, Pratap Chand, Christine Cooper, Susan R. Criswell, Khashayar Dashtipour, Andres Deik, Aaron Ellenbogen, Virgilio Gerald H. Evidente, Danielle Feigenbaum, Susan H. Fox, Karen Frei, Jeffrey Gitt, John L. Goudreau, Behzad Habibi, Timothy Harrower, Bernhard Haslinger, Peter Hedera, Daragh Heitzman, Neal Hermanowicz, Jorge Hernández‐Vara, David Isaacs, Stuart Isaacson, Robert Jech, Hyder A. Jinnah, Christopher Kobylecki, Katja Kollewe, Katie Kompoliti, Dariusz Koziorowski, Alexandre Kreisler, Rajeev Kumar, Andreas Kupsch, Mark S. LeDoux, Peter A. LeWitt, Ebba Lohmann, Lydia López Manzanares, Irene A. Malaty, Janice M. Massey, Peter McAllister, Peter Moore, Elena Moro, William G. Ondo, Javier Pagonabarraga Mora, Sebastian Paus, Elizabeth Peckham, Rekha Pillai, Monika Rudzińska, Harvey Schwartz, Carlos Singer, Jarosław Sławek, Thomas Sycha, Dariusz A Szabela, Jessica Tate, N. Thakur, D. F. Torres, José M. Trejo, Daniel Truong, Winona Tse, Andrzej Tutaj, Alberto Vasquez, Oldřich Vyšata, Ivana Woznicová, Sharon Yegiaian
出版 2024Artigo -
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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia 由 Michael Zech, Ivana Dzinovic, Matěj Škorvánek, Philip Harrer, Ján Necpál, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, A. Stehr, Alice Saparov, Lucia Abela, Miriam Adamovičová, Alexandra Afenjar, Birgit Assmann, Janette Baloghová, Matthias Baumann, Riccardo Berutti, Zuzana Brežná, Melanie Brugger, Theresa Brunet, Benjamin Cogné, Isabel Colangelo, Erin Conboy, Ertan Mayatepek, Matthias Eckenweiler, Barbara Garavaglia, Arie Geerlof, Elisabeth Graf, Annette Hackenberg, Denisa Harvanová, Bernhard Haslinger, Petra Havránková, Georg F. Hoffmann, Wibke G. Janzarik, Boris Keren, Miriam Kolníková, Konstantinos Kolokotronis, Zuzana Košutzká, Anne Koy, Martin Krenn, Magdalena Krygier, Katarína Kušíková, Oliver Maier, Thomas Meitinger, Christian Mertes, Ivan Milenković, Edoardo Monfrini, André Mourão, Thomas Musacchio, Mathilde Nizon, Miriam Ostrožovičová, Martin Pavlov, Iva Příhodová, Irena Rektorová, Luigi Romito, Barbora Rybanska, Ariane Sadr‐Nabavi, Susanne Schwenger, Ali Shoeibi, Alexandra Sitzberger, Dmitrii Smirnov, Jana Svantnerova, Raushana Tautanova, Sandra P. Toelle, Olga Ulmanová, Francesco Vetrini, Katharina Vill, Matias Wagner, David Weise, Giovanna Zorzi, Alessio Di Fonzo, Konrad Oexle, Steffen Berweck, Volker Mall, Sylvia Boesch, Barbara Schormair, Holger Prokisch, Robert Jech, H. Mann
出版 2025Artigo
相關主題
Medicine
Neuroscience
Psychology
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Dystonia
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Gene
Pathology
Exome sequencing
Functional magnetic resonance imaging
Mutation
Physical therapy
Compound heterozygosity
Internal medicine
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Supplementary motor area
Anatomy
Anesthesia
Audiology
Basal ganglia
Blepharospasm
Botulinum toxin
Central nervous system
Cervical dystonia
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Facial expression