檢索結果 - Jan Roth
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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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An <scp>MDS</scp> Evidence‐Based Review on Treatments for Huntington's Disease 由 Joaquim J. Ferreira, Filipe B. Rodrigues, Gonçalo S. Duarte, Tiago Mestre, Anne‐Catherine Bachoud‐Lévi, Anna Rita Bentivoglio, Jean‐Marc Burgunder, Francisco Cardoso, Daniel O. Claassen, G. Bernhard Landwehrmeyer, Jaime Kulisevsky, Melissa J. Nirenberg, Anne Rosser, Jan Roth, Klaus Seppi, Jarosław Sławek, Erin Furr‐Stimming, Sarah J. Tabrizi, Francis O. Walker, Wim Vandenberghe, João Costa, Cristina Sampaio
出版 2021Revisão -
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Quality of life, health-related quality of life, and associated factors in Huntington’s disease: a systematic review 由 Pearl J. C. van Lonkhuizen, Wiebke Frank, Anne‐Wil Heemskerk, Erik van Duijn, Susanne T. de Bot, Alžbeta Mühlbäck, G. Bernhard Landwehrmeyer, Niels H. Chavannes, Eline Meijer, Niels H. Chavannes, Susanne T. de Bot, Pearl J. C. van Lonkhuizen, G. Bernhard Landwehrmeyer, Franziska Steck, Jiří Klempíř, Romama Konvalinková, Eva Bezuchová, Kristýna Dolečková, Olga Klempířová, Jan Roth, Olga Ulmanová, Ferdinando Squitieri, Sabrina Maffi, Eugenia Scaricamazza, Simone Migliore, Chiara Di Giorgio, Barbara D’Alessio, Melissa Casella, Jennifer Hoblyn, Muthukumaran Thangaramanujam, Tom Burke, Emer O’Malley, Stephen P. McKenna, Ian McKenna, Jeanette Thorpe, Anna Coffey, Ramona Moldovan, Peter Foley, Jacqueline Kerr
出版 2023Revisão -
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Monogenic variants in dystonia: an exome-wide sequencing study 由 Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička
出版 2020Artigo
相關主題
Medicine
Disease
Biology
Internal medicine
Psychiatry
Psychology
Huntington's disease
Neuroscience
Pathology
Anxiety
Apathy
Exome
Exome sequencing
Gene
Genetics
Mathematics
Movement disorders
Mutation
Optometry
Paleontology
Parkinson's disease
Physical therapy
Age of onset
Audiology
Balance (ability)
Blind spot
Cadence
Candidate gene
Central scotoma
Cerebellum