檢索結果 - Judith van Gaalen

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  1. 1
    Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3

    Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3 由 Winfried Ilg, Björn Müller, Jennifer Faber, Judith van Gaalen, Holger Hengel, Ina R. Vogt, Guido Hennes, Bart P.C. van de Warrenburg, Thomas Klockgether, Lüdger Schöls, Matthis Synofzik

    出版 2022
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  2. 2
    Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings

    Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings 由 Nienke J.H. van Os, Koen van Aerde, Judith van Gaalen, Peter Merkus, Laura Silveira‐Moriyama, Tajul A Tajudin, Bart P.C. van de Warrenburg, Corry M.R. Weemaes, Marieke Dekker, Michèl A.A.P. Willemsen

    出版 2020
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  3. 3
    Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy

    Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy 由 Marjo S. van der Knaap, Marianna Bugiani, Marisa I. Mendes, Lisa G. Riley, Desirée E.C. Smith, Joëlle Rudinger‐Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frédéric Tran Mau‐Them, Richard J. Rodenburg, Ryan J. Taft, Boris Keren, John Christodoulou, Christel Depienne, Cas Simons, Gajja S. Salomons, Fanny Mochel

    出版 2019
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  4. 4
    Polyglutamine-expanded ataxin-3: a target engagement marker for Spinocerebellar ataxia type 3 in peripheral blood

    Polyglutamine-expanded ataxin-3: a target engagement marker for Spinocerebellar ataxia type 3 in peripheral blood 由 Jeannette Hübener‐Schmid, Kirsten Kuhlbrodt, Julien Peladan, Jennifer Faber, Magda M. Santana, Holger Hengel, Heike Jacobi, Kathrin Reetz, Héctor García‐Moreno, Mafalda Raposo, Judith van Gaalen, Jon Infante, Katharina M. Steiner, Jeroen de Vries, Marcel M. Verbeek, Paola Giunti, Luís Pereira de Almeida, Manuela Lima, Bart van de Warrenburg, Lüdger Schöls, Thomas Klockgether, Matthis Synofzik, Olaf Rieß

    出版 2021
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  5. 5
    Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

    Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia 由 Ilaria Giordano, Florian Harmuth, Heike Jacobi, Brigitte Paap, Stefan Vielhaber, Judith Machts, Lüdger Schöls, Matthis Synofzik, Marc Sturm, Chantal Tallaksen, Iselin Marie Wedding, Sylvia Boesch, Andreas Eigentler, Bart van de Warrenburg, Judith van Gaalen, Christoph Kamm, Aleš Dudešek, Jun‐Suk Kang, Dagmar Timmann, Gabriella Silvestri, Marcella Masciullo, Thomas Klopstock, Christiane Neuhofer, Christos Ganos, Alessandro Filla, Peter Bauer, Sophie Tézenas du Montcel, Thomas Klockgether

    出版 2017
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  6. 6
    CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation

    CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation 由 Jennifer Faber, David Kügler, Emad Bahrami, Lea-Sophie Heinz, Dagmar Timmann, Thomas Ernst, Katerina Deike‐Hofmann, Thomas Klockgether, Bart van de Warrenburg, Judith van Gaalen, Kathrin Reetz, Sandro Romanzetti, Gülin Öz, James M. Joers, Jörn Diedrichsen, Paola Giunti, Héctor García‐Moreno, Heike Jacobi, Johann M. E. Jende, Jeroen de Vries, Michal Považan, Peter B. Barker, Katherina Marie Steiner, Janna Krahe, Martin Reuter

    出版 2022
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  7. 7
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia 由 Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    出版 2019
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  8. 8
    Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3

    Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3 由 Jennifer Faber, Tamara Schaprian, Koyak Berkan, Kathrin Reetz, Marcondes C. França, Thiago Junqueira Ribeiro de Rezende, Hong Jiang, Weihua Liao, Bart P.C. van de Warrenburg, Judith van Gaalen, Alexandra Dürr, Fanny Mochel, Paola Giunti, Héctor García‐Moreno, Ludger Schoels, Holger Hengel, Matthis Synofzik, Benjamin Bender, Gülin Öz, James M. Joers, J.J. de Vries, Jun‐Suk Kang, Dagmar Timmann‐Braun, Heike Jacobi, Jon Infante, Richard Joules, Sandro Romanzetti, Jörn Diedrichsen, Matthias Schmid, Robin Wolz, Thomas Klockgether

    出版 2021
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  9. 9
    Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

    Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice 由 Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Héctor García‐Moreno, Magda M. Santana, Bart van de Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Dürr, Béla Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen de Vries, Luís Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A. Kaeser, Jens Kühle, Thomas Klockgether, Lüdger Schöls, Christian Barro, Jeannette Hübener‐Schmid, Matthis Synofzik, Christian Deuschle, Elke Stransky, Kathrin Brockmann, Jörg B. Schulz, László Balikó, Judith van Gaalen, Mafalda Raposo, Andreas Jeromin

    出版 2020
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  10. 10
    Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study

    Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study 由 Thiago Junqueira Ribeiro de Rezende, Isaac Adanyaguh, Orlando Graziani Póvoas Barsottini, Benjamin Bender, Fernando Cendes, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Dürr, Juan Fernández-Ruíz, Sophia Göricke, Marina Grisoli, Carlos R. Hernandez‐Castillo, Christophe Lenglet, Caterina Mariotti, Alberto Martínez, Breno Kazuo Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio Eiji Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Hélio Afonso Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Bart P.C. van de Warrenburg, Judith van Gaalen, Marcondes C. França, Ian H. Harding

    出版 2024
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  11. 11
    Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

    Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3 由 Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hübener‐Schmid, Tamara Schaprian, Magda M. Santana, Marcus Grobe‐Einsler, Demet Önder, Berkan Koyak, Paola Giunti, Héctor García‐Moreno, Cristina Gonzalez‐Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P.C. van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Gülin Öz, James M. Joers, Matthis Synofzik, Lüdger Schöls, Olaf Rieß, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi Onyike, Michal Považan, Jeremy D. Schmahmann, Eva‐Maria Ratai, Matthias Schmid, Thomas Klockgether

    出版 2023
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  12. 12
    Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy

    Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy 由 Ellen Gelpí, Raphael Reinecke, Carles Gaig, Àlex Iranzo, Lídia Sabater, Laura Molina‐Porcel, Ibán Aldecoa, Verena Endmayr, Birgit Högl, Erich Schmutzhard, Werner Poewe, Bettina Pfausler, Mara Popović, Janja Pretnar Oblak, Frank Leypoldt, Jakob Matschke, Markus Glatzel, Elena Erro, Ivonne Jericó, María Cristina Caballero, María Victoria Zelaya, Sara Mariotto, Anna Heidbreder, Ognian Kalev, Serge Weis, Stefan Macher, Evelyn Berger–Sieczkowski, Julia Ferrari, Christoph Reisinger, Nikolaus Klupp, Pentti Tienari, Osma S. Rautila, Miska Aleksanteri Niemelä, Deniz Yilmazer‐Hanke, Mar Guasp, Bas R. Bloem, Judith Van Gaalen, Benno Küsters, Maarten J. Titulaer, Nina L. Fransen, Joan Santamaría, Timothy Dawson, Janice L. Holton, Helen Ling, Tamás Révész, Liisa Myllykangas, Herbert Budka, Gábor G. Kovács, Jan Lewerenz, Josep Dalmau, Francesc Graus, Inga Koneczny, Romana Höftberger

    出版 2024
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  13. 13
    Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort

    Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort 由 Moritz Berger, Héctor García‐Moreno, Mónica Ferreira, Jeannette Hübener‐Schmid, Tamara Schaprian, Philipp Wegner, Tim Elter, Kennet M Teichmann, Magda M. Santana, Marcus Grobe‐Einsler, Demet Önder, Berkan 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.C. van de Warrenburg, Judith van Gaalen, Teije van Prooije, Jeroen de Vries, Lüdger Schöls, Olaf Rieß, Matthis Synofzik, Dagmar Timmann, Andreas Thieme, Friedrich Erdlenbruch, Jon Infante, Ana Lara Pelayo, Leire Manrique, Kathrin Reetz, Imis Dogan, Gülin Öz, James M. Joers, Khalaf Bushara, Chiadikaobi Onyike, Michal Považan, Heike Jacobi, Jeremy D. Schmahmann, Eva-Maria Ratai, Matthias Schmid, Paola Giunti, Thomas Klockgether, Jennifer Faber

    出版 2025
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  14. 14
    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 由 Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damásio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas D. Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz‐Hübsch, Sarah Doss, Gijs A.J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Darío Ortigoza‐Escobar, Stefano D’Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. de Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cécilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart van de Warrenburg, Lüdger Schöls, Franco Taroni, Alexis Brice, Alexandra Dürr

    出版 2023
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