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

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

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

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Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3 von Faber, Jennifer, Schaprian, Tamara, Berkan, Koyak, Reetz, Kathrin, França, Marcondes Cavalcante, Rezende, Thiago Junqueira Ribeiro, Hong, Jiang, Liao, Weihua, Warrenburg, Bart, Gaalen, Judith, Durr, Alexandra, Mochel, Fanny, Giunti, Paola, Garcia‐Moreno, Hector, Schoels, Ludger, Hengel, Holger, Synofzik, Matthis, Bender, Benjamin, Oz, Gulin, Joers, James, Vries, Jereon J., Kang, Jun‐Suk, Timmann‐Braun, Dagmar, Jacobi, Heike, Infante, Jon, Joules, Richard, Romanzetti, Sandro, Diedrichsen, Jorn, Schmid, Matthias, Wolz, Robin, Klockgether, Thomas

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Movement disorders in spinocerebellar ataxias von van Gaalen, Judith, Giunti, Paola, van de Warrenburg, Bart P.

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

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Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood von Hübener‐Schmid, Jeannette, Kuhlbrodt, Kirsten, Peladan, Julien, Faber, Jennifer, Santana, Magda M., Hengel, Holger, Jacobi, Heike, Reetz, Kathrin, Garcia‐Moreno, Hector, Raposo, Mafalda, Gaalen, Judith, Infante, Jon, Steiner, Katharina M., Vries, Jeroen, Verbeek, Marcel M., Giunti, Paola, Pereira de Almeida, Luis, Lima, Manuela, Warrenburg, Bart, Schöls, Ludger, Klockgether, Thomas, Synofzik, Matthis, Riess, Olaf

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Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3 von Maas, Roderick P.P.W.M., Teerenstra, Steven, Lima, Manuela, Pires, Paula, Pereira de Almeida, Luís, Gaalen, Judith, Timmann, Dagmar, Infante, Jon, Onyike, Chiadi, Bushara, Khalaf, Jacobi, Heike, Reetz, Kathrin, Santana, Magda M., Afonso Ribeiro, Joana, Hübener‐Schmid, Jeannette, Vries, Jeroen J., Synofzik, Matthis, Schöls, Ludger, Garcia‐Moreno, Hector, Giunti, Paola, Faber, Jennifer, Klockgether, Thomas, Warrenburg, Bart P.C.

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Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3 von Faber, Jennifer, Berger, Moritz, Wilke, Carlo, Hubener‐Schmid, Jeannette, Schaprian, Tamara, Santana, Magda M., Grobe‐Einsler, Marcus, Onder, Demet, Koyak, Berkan, Giunti, Paola, Garcia‐Moreno, Hector, Gonzalez‐Robles, Cristina, Lima, Manuela, Raposo, Mafalda, Melo, Ana Rosa Vieira, Almeida, Luís Pereira, Silva, Patrick, Pinto, Maria M., Warrenburg, Bart P., Gaalen, Judith, Vries, Jeroen, Oz, Gulin, Joers, James M., Synofzik, Matthis, Schols, Ludger, Riess, Olaf, Infante, Jon, Manrique, Leire, Timmann, Dagmar, Thieme, Andreas, Jacobi, Heike, Reetz, Kathrin, Dogan, Imis, Onyike, Chiadikaobi, Povazan, Michal, Schmahmann, Jeremy, Ratai, Eva‐Maria, Schmid, Matthias, Klockgether, Thomas

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

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Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration von Ferreira, Mónica, Schaprian, Tamara, Kügler, David, Reuter, Martin, Deike-Hoffmann, Katharina, Timmann, Dagmar, Ernst, Thomas M., Giunti, Paola, Garcia-Moreno, Hector, van de Warrenburg, Bart, van Gaalen, Judith, de Vries, Jeroen, Jacobi, Heike, Steiner, Katharina Marie, Öz, Gülin, Joers, James M., Onyike, Chiadi, Povazan, Michal, Reetz, Kathrin, Romanzetti, Sandro, Klockgether, Thomas, Faber, Jennifer

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Classic ataxia-telangiectasia: the phenotype of long-term survivors von van Os, Nienke J. H., van Deuren, Marcel, Weemaes, Corry M. R., van Gaalen, Judith, Hijdra, Helma, Taylor, Alexander M. R., van de Warrenburg, Bart P. C., Willemsen, Michèl A. A. P.

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

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Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum von Staps, Pippa, Gaalen, Judith, Domburg, Peter, Steijlen, Peter M., Ferdinandusse, Sacha, Heijer, Tom, Seyger, Marieke M. B., Theelen, Thomas, Willemsen, Michèl A. A. P.

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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction von Wesdorp, Mieke, de Koning Gans, Pia A. M., Schraders, Margit, Oostrik, Jaap, Huynen, Martijn A., Venselaar, Hanka, Beynon, Andy J., van Gaalen, Judith, Piai, Vitória, Voermans, Nicol, van Rossum, Michelle M., Hartel, Bas P., Lelieveld, Stefan H., Wiel, Laurens, Verbist, Berit, Rotteveel, Liselotte J., van Dooren, Marieke F., Lichtner, Peter, Kunst, Henricus P. M., Feenstra, Ilse, Admiraal, Ronald J. C., Yntema, Helger G., Hoefsloot, Lies H., Pennings, Ronald J. E., Kremer, Hannie

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The preclinical stage of spinocerebellar ataxias von Maas, Roderick P.P.W.M, van Gaalen, Judith, Klockgether, Thomas, van de Warrenburg, Bart P.C

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A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia von Santana, Magda M., Gaspar, Laetitia S., Pinto, Maria M., Silva, Patrick, Adão, Diana, Pereira, Dina, Ribeiro, Joana Afonso, Cunha, Inês, Huebener‐Schmid, Jeannette, Raposo, Mafalda, Ferreira, Ana F., Faber, Jennifer, Kuhs, Sandra, Garcia‐Moreno, Hector, Reetz, Kathrin, Thieme, Andreas, Infante, Jon, Warrenburg, Bart P. C., Giunti, Paola, Riess, Olaf, Schöls, Ludger, Lima, Manuela, Klockgether, Thomas, Januário, Cristina, Almeida, Luís Pereira, Krahe, Janna, Gaalen, Judith, Gonzalez‐Robles, Cristina, Fleszar, Zofia, Pelayo‐Negro, Ana Lara, Manrique, Leire, Timmann, Dagmar, Steiner, Katharina M., Melo, Ana Rosa Vieira

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Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3 von Raposo, Mafalda, Hübener-Schmid, Jeannette, Ferreira, Ana F, Vieira Melo, Ana Rosa, Vasconcelos, João, Pires, Paula, Kay, Teresa, Garcia-Moreno, Hector, Giunti, Paola, Santana, Magda M, Pereira de Almeida, Luis, Infante, Jon, van de Warrenburg, Bart P, de Vries, Jeroen J, Faber, Jennifer, Klockgether, Thomas, Casadei, Nicolas, Admard, Jakob, Schöls, Ludger, Riess, Olaf, Lima, Manuela

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

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

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