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Item performance of the scale for the assessment and rating of ataxia in rare and ultra‐rare genetic ataxias by Alzahra Hamdan, Andrew C. Hooker, Xiaomei Chen, Andreas Traschütz, Rebecca Schüle, ARCA Study Group, EVIDENCE‐RND consortium, Matthis Synofzik, Mats O. Karlsson
Published 2024-08-01Get full text
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Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias us... by Niels Hendrickx, France Mentré, Alzahra Hamdan, Mats O. Karlsson, Andrew C. Hooker, Andreas Traschütz, Cynthia Gagnon, Rebecca Schüle, Matthis Synofzik, Emmanuelle Comets, ARCA Study Group, EVIDENCE-RND consortium
Published 2025-07-01Get full text
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Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia by Michele Potashman, Katja Rudell, Naomi Suminski, Rinchen Doma, Maggie Heinrich, Linda Abetz-Webb, Melissa Wolfe Beiner, Vlad Coric, Liana S. Rosenthal, Sheng-Han Kuo, Theresa Zesiewicz, Terry D. Fife, Bart van de Warrenburg, Giovanni Ristori, Matthis Synofzik, Sub Subramony, Susan Perlman, Jeremy D. Schmahmann, Gil L’Italien
Published 2025-01-01Get full text
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The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortResearch... by Danique Beijer, David Mengel, Demet Önder, Carlo Wilke, Andreas Traschütz, Jennifer Faber, Dagmar Timmann, Sylvia Boesch, Stefan Vielhaber, Thomas Klopstock, Bart P. van de Warrenburg, Gabriella Silvestri, Christoph Kamm, Iselin Marie Wedding, Zofia Fleszar, Florian Harmuth, Claudia Dufke, Bernard Brais, Olaf Rieß, Ludger Schöls, Tobias Haack, Stephan Züchner, David Pellerin, Thomas Klockgether, Matthis Synofzik, Friedrich Erdlenbruch, Andreas Thieme, Judith van Gaalen, Christos Ganos, Jun-Suk Kang, Marcus Grobe-Einsler, Ilaria Giordano
Published 2025-05-01Get full text
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Artificial intelligence–based rapid brain volumetry substantially improves differential diagnosis in dementia by Jan Rudolph, Johannes Rueckel, Jörg Döpfert, Wen Xin Ling, Jens Opalka, Christian Brem, Nina Hesse, Maria Ingenerf, Vanessa Koliogiannis, Olga Solyanik, Boj F. Hoppe, Hanna Zimmermann, Wilhelm Flatz, Robert Forbrig, Maximilian Patzig, Boris‐Stephan Rauchmann, Robert Perneczky, Oliver Peters, Josef Priller, Anja Schneider, Klaus Fliessbach, Andreas Hermann, Jens Wiltfang, Frank Jessen, Emrah Düzel, Katharina Buerger, Stefan Teipel, Christoph Laske, Matthis Synofzik, Annika Spottke, Michael Ewers, Peter Dechent, John‐Dylan Haynes, Johannes Levin, Thomas Liebig, Jens Ricke, Michael Ingrisch, Sophia Stoecklein
Published 2024-10-01Get full text
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Diffusion tensor imaging of sequential neuropathological patterns in progressive supranuclear palsy by Lavinia A. Bârlescu, Günter U. Höglinger, Günter U. Höglinger, Günter U. Höglinger, Heiko Volkmann, Albert C. Ludolph, Albert C. Ludolph, Kelly Del Tredici, Kelly Del Tredici, Heiko Braak, Heiko Braak, the DESCRIBE-PSP Study Group, Hans-Peter Müller, Jan Kassubek, Moritz Brandt, Katharina Buerger, Emrah Düzel, Björn Falkenburger, Agnes Flöel, Wenzel Glanz, Günter U. Höglinger, Daniel Janowitz, Sabrina Katzdobler, Ingo Kilimann, Okka Kimmich, Johannes Levin, Oliver Peters, Josef Priller, Johannes Prudlo, Luisa-Sophie Schneider, Annika Spottke, Eike Jakob Spruth, Matthis Synofzik, Stefan Teipel, Carlo Wilke
Published 2025-06-01Get full text
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Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice by Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Hector Garcia‐Moreno, Magda M Santana, Bart van de Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Durr, Bela Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen de Vries, Luis Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A Kaeser, Jens Kuhle, Thomas Klockgether, Ludger Schöls, SCA3 neurofilament study group, Christian Barro, Jeannette Hübener‐Schmid, Matthis Synofzik, Christian Deuschle, Elke Stransky, Kathrin Brockmann, Jörg B Schulz, Laszlo Baliko, Judith van Gaalen, Mafalda Raposo, Andreas Jeromin
Published 2020-06-01Get full text
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Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohortResearch in context by Moritz Berger, Hector Garcia-Moreno, Mónica Ferreira, Jeannette Hubener-Schmid, Tamara Schaprian, Philipp Wegner, Tim Elter, Kennet M. Teichmann, Magda M. Santana, Marcus Grobe-Einsler, Demet Oender, Berkan S.C. Koyak, Sarah Bernsen, Luís Pereira de Almeida, Patrick Silva, Joana Afonso Ribeiro, Inês Cunha, Cristina Gonzalez-Robles, Shamsher Khan, Amanda Heslegrave, Henrik Zetterberg, Manuela Lima, Mafalda Raposo, Ana F. Ferreira, João Vasconcelos, Bart P. van de Warrenburg, Judith van Gaalen, Teije H. van Prooije, Jeroen de Vries, Ludger Schols, Olaf Riess, Matthis Synofzik, Dagmar Timmann, Andreas Thieme, Friedrich Erdlenbruch, Jon Infante, Ana L. Pelayo-Negro, Leire Manrique, Kathrin Reetz, Imis Dogan, Gulin Oz, James M. Joers, Khalafalla Bushara, Chiadikaobi Onyike, Michal Povazan, Heike Jacobi, Jeremy D. Schmahmann, Eva-Maria Ratai, Matthias Schmid, Paola Giunti, Thomas Klockgether, Jennifer Faber
Published 2025-08-01Get full text
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Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing by Cyril Pottier, Fahri Küçükali, Matt Baker, Anthony Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina T. Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa E. Murray, Júlia Faura, Stephen J. Haggarty, Jeroen GJ. van Rooij, Merel O. Mol, Ging-Yuek R. Hsiung, Caroline Graff, Linn Öijerstedt, Manuela Neumann, Yan Asmann, Shannon K. McDonnell, Saurabh Baheti, Keith A. Josephs, Jennifer L. Whitwell, Kevin F. Bieniek, Leah Forsberg, Hilary Heuer, Argentina Lario Lago, Ethan G. Geier, Jennifer S. Yokoyama, Alexis P. Oddi, Margaret Flanagan, Qinwen Mao, John R. Hodges, John B. Kwok, Kimiko Domoto-Reilly, Matthis Synofzik, Carlo Wilke, Chiadi Onyike, Bradford C. Dickerson, Bret M. Evers, Brittany N. Dugger, David G. Munoz, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, EunRan Suh, Tamar Gefen, Changiz Geula, Sandra Weintraub, Janine Diehl-Schmid, Martin R. Farlow, Dieter Edbauer, Bryan K. Woodruff, Richard J. Caselli, Laura L. Donker Kaat, Edward D. Huey, Eric M. Reiman, Simon Mead, Andrew King, Sigrun Roeber, Alissa L. Nana, Nilufer Ertekin-Taner, David S. Knopman, Ronald C. Petersen, Leonard Petrucelli, Ryan J. Uitti, Zbigniew K. Wszolek, Eliana Marisa Ramos, Lea T. Grinberg, Maria Luisa Gorno Tempini, Howard J. Rosen, Salvatore Spina, Olivier Piguet, Murray Grossman, John Q. Trojanowski, C. Dirk Keene, Lee-Way Jin, Johannes Prudlo, Daniel H. Geschwind, Robert A. Rissman, Carlos Cruchaga, Bernardino Ghetti, Glenda M. Halliday, Thomas G. Beach, Geidy E. Serrano, Thomas Arzberger, Jochen Herms, Adam L. Boxer, Lawrence S. Honig, Jean P. Vonsattel, Oscar L. Lopez, Julia Kofler, Charles L. White, Marla Gearing, Jonathan Glass, Jonathan D. Rohrer, David J. Irwin, Edward B. Lee, Vivianna Van Deerlin, Rudolph Castellani, Marsel M. Mesulam, Maria C. Tartaglia, Elizabeth C. Finger, Claire Troakes, Safa Al-Sarraj, Clifton L. Dalgard, Bruce L. Miller, Harro Seelaar, Neill R. Graff-Radford, Bradley F. Boeve, Ian RA. Mackenzie, John C. van Swieten, William W. Seeley, Kristel Sleegers, Dennis W. Dickson, Joanna M. Biernacka, Rosa Rademakers
Published 2025-04-01Get full text
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