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  4. Schuster, Stefanie [Author]; Schelling, Yvonne [Author]; Synofzik, Matthis [Author]; Höflinger, Philip [Author]; Schöls, Ludger [Author]; Hauser, Stefan [Author]

    Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16

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    2018

    Published in: Stem cell research ; 29(2018), Seite 166-169

  5. Traschütz, Andreas [Author]; Adarmes-Gomez, Astrid D. [Author]; Anheim, Mathieu [Author]; Baets, Jonathan [Author]; Falkenburger, Björn [Author]; Gburek-Augustat, Janina [Author]; Doss, Sarah [Author]; Kamm, Christoph [Author]; Klivenyi, Peter [Author]; Grobe-Einsler, Marcus [Author]; Klopstock, Thomas [Author]; Minnerop, Martina [Author]; Münchau, Alexander [Author]; Pane, Chiara [Author]; Renaud, Mathilde [Author]; Santorelli, Filippo M. [Author]; Schöls, Ludger [Author]; Timmann-Braun, Dagmar [Author]; Vielhaber, Stefan [Author]; Haack, Tobias [Author]; Warrenburg, Bart Petrus Christoffel van de [Author]; Zanni, Ginevra [Author]; Synofzik, Matthis [Author]

    Autosomal recessive cerebellar ataxias in Europe : frequency, onset, and severity in 677 patients. Letters

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    2023

    Published in: Movement disorders ; 38(2023), 6, Seite 1109-1112

  6. Traschütz, Andreas [Author]; Adarmes-Gomez, Astrid D. [Author]; Klopstock, Thomas [Author]; Minnerop, Martina [Author]; Münchau, Alexander [Author]; Pane, Chiara [Author]; Renaud, Mathilde [Author]; Santorelli, Filippo M. [Author]; Schöls, Ludger [Author]; Timmann, Dagmar [Author]; Vielhaber, Stefan [Author]; Haack, Tobias B. [Author]; Anheim, Mathieu [Author]; van de Warrenburg, Bart P. [Author]; Zanni, Ginevra [Author]; Synofzik, Matthis [Author]; Baets, Jonathan [Author]; Falkenburger, Björn H. [Author]; Gburek-Augustat, Janina [Author]; Doss, Sarah [Author]; Kamm, Christoph [Author]; Klivenyi, Peter [Author]; Grobe-Einsler, Marcus [Author]

    Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

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    Wiley, 2023

    Published in: Movement disorders 38(6), 1109-1112 (2023). doi:10.1002/mds.29397

  7. Oender, Demet [Author]; Faber, Jennifer [Author]; Wilke, Carlo [Author]; Schaprian, Tamara [Author]; Lakghomi, Asadeh [Author]; Mengel, David [Author]; Schöls, Ludger [Author]; Traschütz, Andreas [Author]; Fleszar, Zofia Maria [Author]; Dufke, Claudia [Author]; Vielhaber, Stefan [Author]; Wesenberg, Judith [Author]; Giordano, Ilaria [Author]; Grobe-Einsler, Marcus [Author]; Klopstock, Thomas [Author]; Stendel, Claudia [Author]; Boesch, Sylvia [Author]; Nachbauer, Wolfgang [Author]; Timmann-Braun, Dagmar [Author]; Gustafsson Thieme, Andreas Günther [Author]; Kamm, Christoph [Author]; Dudešek, Ales [Author]; Tallaksen, Chantal [Author]; Wedding, Iselin [Author]; [...]

    Evolution of clinical outcome measures and biomarkers in sporadic adult-onset degenerative ataxia

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    2023

    Published in: Movement disorders ; 38(2023), 4, Seite 654-664

  8. Traschütz, Andreas [Author]; Adarmes-Gómez, Astrid D. [Author]; Anheim, Mathieu [Author]; Baets, Jonathan [Author]; Brais, Bernard [Author]; Gagnon, Cynthia [Author]; Gburek-Augustat, Janina [Author]; Doss, Sarah [Author]; Hanağası, Haşmet A. [Author]; Kamm, Christoph [Author]; Klivenyi, Peter [Author]; Klockgether, Thomas [Author]; Klopstock, Thomas [Author]; Minnerop, Martina [Author]; Münchau, Alexander [Author]; Renaud, Mathilde [Author]; Santorelli, Filippo M. [Author]; Schöls, Ludger [Author]; Gustafsson Thieme, Andreas Günther [Author]; Vielhaber, Stefan [Author]; Warrenburg, Bart Petrus Christoffel van de [Author]; Zanni, Ginevra [Author]; Hilgers, Ralf-Dieter [Author]; Synofzik, Matthis [Author]

    Responsiveness of the Scale for the Assessment and Rating of Ataxia and natural history in 884 recessive and early onset ataxia patients

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    2023

    Published in: Annals of neurology ; 94(2023), 3, Seite 470-485

  9. Traschütz, Andreas [Author]; Adarmes-Gómez, Astrid D. [Author]; Klivenyi, Peter [Author]; Klockgether, Thomas [Author]; Klopstock, Thomas [Author]; Minnerop, Martina [Author]; Münchau, Alexander [Author]; Renaud, Mathilde [Author]; Santorelli, Filippo M. [Author]; Schöls, Ludger [Author]; Thieme, Andreas [Author]; Vielhaber, Stefan [Author]; Anheim, Mathieu [Author]; van de Warrenburg, Bart P. [Author]; Zanni, Ginevra [Author]; Hilgers, Ralf-Dieter [Author]; Synofzik, Matthis [Author]; Baets, Jonathan [Author]; Brais, Bernard [Author]; Gagnon, Cynthia [Author]; Gburek-Augustat, Janina [Author]; Doss, Sarah [Author]; Hanağası, Haşmet A. [Author]; Kamm, Christoph [Author]

    Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients

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    Wiley-Blackwell, 2023

    Published in: Annals of neurology 94(3), 470 - 485 (2023). doi:10.1002/ana.26712

  10. Hengel, Holger [Author]; Martus, Peter [Author]; Santana, Magda M. [Author]; Januário, Cristina [Author]; Silva, Patrick [Author]; Thieme, Andreas [Author]; Infante, Jon [Author]; Vries, Jeroen [Author]; Lima, Manuela [Author]; Ferreira, Ana F. [Author]; Bushara, Khalaf [Author]; Jacobi, Heike [Author]; Faber, Jennifer [Author]; Onyike, Chiadi [Author]; Schmahmann, Jeremy D. [Author]; Hübener-Schmid, Jeannette [Author]; Synofzik, Matthis [Author]; Schöls, Ludger [Author]; Garcia-Moreno, Hector [Author]; Solanky, Nita [Author]; Giunti, Paola [Author]; Klockgether, Thomas [Author]; Reetz, Kathrin [Author]; Warrenburg, Bart P. [Author];

    Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity

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    Wiley, 2022

    Published in: Movement disorders 37(2), 405-410 (2022). doi:10.1002/mds.28844

  11. Hübener-Schmid, Jeannette [Author]; Kuhlbrodt, Kirsten [Author]; Gaalen, Judith [Author]; Infante, Jon [Author]; Steiner, Katharina M. [Author]; Vries, Jeroen [Author]; Verbeek, Marcel M. [Author]; Giunti, Paola [Author]; Pereira de Almeida, Luis [Author]; Lima, Manuela [Author]; Warrenburg, Bart [Author]; Schöls, Ludger [Author]; Peladan, Julien [Author]; Klockgether, Thomas [Author]; Synofzik, Matthis [Author]; Riess, Olaf [Author]; Faber, Jennifer [Author]; Santana, Magda M. [Author]; Hengel, Holger [Author]; Jacobi, Heike [Author]; Reetz, Kathrin [Author]; Garcia-Moreno, Hector [Author]; Raposo, Mafalda [Author]

    Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood

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    Wiley, 2021

    Published in: Movement disorders 36(11), 2675 - 2681 (2021). doi:10.1002/mds.28749

  12. Schmitz-Hübsch, Tanja [Author]; Lux, Silke [Author]; Bauer, Peter [Author]; Brandt, Alexander Ulrich [Author]; Schlapakow, Elena [Author]; Greschus, Susanne [Author]; Scheeler, Michael Lothar [Author]; Gärtner, Hanna [Author]; Kirlangic, Mehmet Eylem [Author]; Gras, Vincent [Author]; Timmann-Braun, Dagmar [Author]; Synofzik, Matthis [Author]; Giorgetti, Alejandro [Author]; Carloni, Paolo [Author]; Shah, Jon N. [Author]; Schöls, Ludger [Author]; Kopp, Ute [Author]; Bußenius, Lisa [Author]; Oberwahrenbrock, Timm [Author]; Zimmermann, Hanna [Author]; Pfueller, Caspar [Author]; Kadas, Ella-Maria [Author]; Rönnefarth, Maria [Author]; Grosch, Anne-Sophie [Author]; [...]

    Spinocerebellar ataxia type 14 : refining clinicogenetic diagnosis in a rare adult-onset disorder

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    2021

    Published in: Annals of Clinical and Translational Neurology ; 8(2021), 4, Seite 774-789

  13. Traschütz, Andreas [Author]; Reich, Selina [Author]; Gburek-Augustat, Janina [Author]; Hanagasi, Hasmet A. [Author]; Heinzmann, Anna [Author]; Horvath, Rita [Author]; de Jonghe, Peter [Author]; Kamm, Christoph [Author]; Klivenyi, Peter [Author]; Klopstock, Thomas [Author]; Minnerop, Martina [Author]; Münchau, Alexander [Author]; Adarmes, Astrid D. [Author]; Renaud, Mathilde [Author]; Roxburgh, Richard H. [Author]; Santorelli, Filippo M. [Author]; Schirinzi, Tommaso [Author]; Sival, Deborah A. [Author]; Timmann, Dagmar [Author]; Vielhaber, Stefan [Author]; Wallner, Michael [Author]; van de Warrenburg, Bart P. [Author]; Zanni, Ginevra [Author]; Anheim, Mathieu [Author]; [...]

    The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

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    Frontiers Research Foundation, 2021

    Published in: Frontiers in neurology 12, 677551 (2021). doi:10.3389/fneur.2021.677551

  14. Traschütz, Andreas [Author]; Reich, Selina [Author]; Adarmes, Astrid D. [Author]; Anheim, Mathieu [Author]; Ashrafi, Mahmoud Reza [Author]; Baets, Jonathan [Author]; Basak, A. Nazli [Author]; Bertini, Enrico [Author]; Brais, Bernard [Author]; Gagnon, Cynthia [Author]; Gburek-Augustat, Janina [Author]; Hanagasi, Hasmet A. [Author]; Heinzmann, Anna Constanze [Author]; Horvath, Rita [Author]; Jonghe, Peter de [Author]; Kamm, Christoph [Author]; Klivenyi, Peter [Author]; Klopstock, Thomas [Author]; Minnerop, Martina [Author]; Münchau, Alexander [Author]; Renaud, Mathilde [Author]; Roxburgh, Richard H. [Author]; Santorelli, Filippo M. [Author]; Schirinzi, Tommaso [Author]; [...]

    The ARCA Registry : a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias

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    2021

    Published in: Frontiers in neurology ; 12(2021), Artikel-ID 677551, Seite 1-10

  15. Reetz, Kathrin [Author]; Dogan, Imis [Author]; Nachbauer, Wolfgang [Author]; Klopstock, Thomas [Author]; Stendel, Claudia [Author]; Rodríguez de Rivera Garrido, Francisco Javier [Author]; Rummey, Christian [Author]; Schöls, Ludger [Author]; Hayer, Stefanie N [Author]; Klockgether, Thomas [Author]; Giordano, Ilaria [Author]; Didszun, Claire [Author]; Hilgers, Ralf-Dieter [Author]; Rai, Myriam [Author]; Pandolfo, Massimo [Author]; Schulz, Jörg B [Author]; Labrum, Robyn [Author]; Thomas-Black, Gilbert [Author]; Manso, Katarina [Author]; Solanky, Nita [Author]; Gellera, Cinzia [Author]; Mongelli, Alessia [Author]; Castaldo, Anna [Author]; Giunti, Paola [Author]; [...]

    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

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    Lancet Publ. Group, 2021

    Published in: The lancet <London> / Neurology 20(5), 362 - 372 (2021). doi:10.1016/S1474-4422(21)00027-2

  16. Reetz, Kathrin [Author]; Dogan, Imis [Author]; Klockgether, Thomas [Author]; Bürk, Katrin [Author]; Rai, Myriam [Author]; Pandolfo, Massimo [Author]; Schulz, Jörg B. [Author]; Nachbauer, Wolfgang [Author]; Eigentler, Andreas [Author]; Depondt, Chantal [Author]; Benaich, Sandra [Author]; Charles, Perrine [Author]; Hilgers, Ralf-Dieter [Author]; Ewenczyk, Claire [Author]; Monin, Marie-Lorraine [Author]; Dafotakis, Manuel [Author]; Fedosov, Kathrin [Author]; Didszun, Claire [Author]; Ermis, Ummehan [Author]; Giordano, Ilaria A [Author]; Timmann, Dagmar [Author]; Karin, Ivan [Author]; Neuhofer, Christiane [Author]; Giunti, Paola [Author]; [...]

    Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

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    Lancet Publ. Group, 2016

    Published in: The lancet <London> / Neurology Neurology 15(13), 1346 - 1354 (2016). doi:10.1016/S1474-4422(16)30287-3