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Sena, Priscila Pereira; Weber, Jonasz J.; Watchon, Maxinne; Robinson, Katherine J.; Wassouf, Zinah; Hauser, Stefan; Helm, Jacob; Abeditashi, Mahkameh; Schmidt, Jana; Hübener-Schmid, Jeannette; Schöls, Ludger; Laird, Angela S.; Riess, Olaf; Schmidt, Thorsten

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Grobe-einsler, Marcus; Maas, Vivian; Amin, Arian Taheri; Faber, Jennifer; Schaprian, Tamara; Hill, Katharina; Synofzik, Matthis; Graf, Lisa H.; Jacobi, Heike; Lima, Manuela; Ferreira, Ana F.; van de Warrenburg, Bart P.; Willemse, Ilse H. J.; Timmann, Dagmar; Thieme, Andreas; Giunti, Paola; Garcia-Moreno, Hector; Santana, Magda M.; Huebener-Schmid, Jeannette; Davies, Elin H.; Klockgether, Thomas

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; JAN 22 2026, 9p.

Raposo, Mafalda ; Hübener-Schmid, Jeannette ; Tagett, Rebecca ; 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 ; Costa, Maria do Carmo ; Lima, Manuela

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Silva P; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Gene Therapy Center of Excellence (GeneT), Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), University of Coimbra, Coimbra, Portugal.; Costa MA; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), University of Coimbra, Coimbra, Portugal.; Gaspar L; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.; Institute of Interdisciplinary Research, University of Coimbra (IIIUC), Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Gene Therapy Center of Excellence (GeneT), Coimbra, Portugal.; Durães J; Coimbra Hospital and University Center (CHUC), Coimbra, Portugal.; Cunha I; Coimbra Hospital and University Center (CHUC), Coimbra, Portugal.; Ribeiro JA; Coimbra Hospital and University Center (CHUC), Coimbra, Portugal.; Januário C; Coimbra Hospital and University Center (CHUC), Coimbra, Portugal.; Oliveiros B; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Laboratory of Biostatistics and Medical Informatics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Center for Research in Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Faculty of Medicine, Coimbra Institute for Clinical and Biomedical Research, University of Coimbra, Coimbra, Portugal.; Hübener-Schmid J; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Faber J; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany.; Raposo M; Institute for Research and Innovation in Health (I3S), University of Porto, Porto, Portugal.; School of Sciences & Technology, University of Azores, Ponta Delgada, Portugal.; Lima M; School of Sciences & Technology, University of Azores, Ponta Delgada, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.; Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Beichert L; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; van de Warrenburg BP; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries J; Department of Neurology, University Medical Center Groningen, Groningen, the Netherlands.; Thieme A; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany.; Reetz K; Department of Neurology, RWTH Aachen University Hospital, Aachen, Germany.; Jacobi H; Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.; Infante J; Neurology Service, Centro de investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), University Hospital Marqués de Valdecilla - IDIVAL, University of Cantabria, Santander, Spain.; Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany.; de Almeida LP; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Gene Therapy Center of Excellence (GeneT), Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), University of Coimbra, Coimbra, Portugal.; Santana MM; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal. mmsantana@uc.pt.; Institute of Interdisciplinary Research, University of Coimbra (IIIUC), Coimbra, Portugal. mmsantana@uc.pt.; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal. mmsantana@uc.pt.; Gene Therapy Center of Excellence (GeneT), Coimbra, Portugal. mmsantana@uc.pt.; Centro de Neurociências e Biologia Celular, Faculdade de Medicina da Universidade de Coimbra, Polo 1, 1º Piso, Rua Larga, 3000-041, Coimbra, Portugal. mmsantana@uc.pt.

Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9431220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1934 (Electronic) Linking ISSN: 11727047 NLM ISO Abbreviation: CNS Drugs Subsets: MEDLINE

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Brain 146(10), 4132-4143 (2023). doi:10.1093/brain/awad128
Brain, 146, 10, pp. 4132-4143

Maas, R.P.P.W.M.; Teerenstra, S.; Lima, M.; Pires, P.; Almeida, L.; van Gaalen, J.; Timmann, D.; Infante, J.; Onyike, C.; Bushara, K.; Jacobi, H.; Reetz, K.; Santana, M.M.; Ribeiro, J.A.; Hübener-Schmid, J.; de Vries, J.J.J.; Synofzik, M.; Schöls, L.; Garcia-Moreno, H.; Giunti, P.; Faber, J.; Klockgether, T.; van de Warrenburg, B.P.C.

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Anna J. Zimmer; Carola Bahl; Jule M Schäfer; Jonasz Jeremiasz Weber; Olaf Riess; Jeannette Hübener-Schmid

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; European Spinocerebellar ataxia type 3/Machado-Joseph disease In; Riess, Olaf; Lima, Manuela

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Elter TL; German Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany. Tim-lukas.elter@dzne.de.; Sturm D; Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Santana MM; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.; Schaprian T; Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Raposo M; IBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; Melo ARV; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.; Lima M; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.; Koyak B; German Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.; Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Oender D; German Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.; Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Grobe-Einsler M; German Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.; Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Lopes S; IBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra (IIIUC), Coimbra, Portugal.; Silva P; IBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), Coimbra, Portugal.; de Almeida LP; IBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), Coimbra, Portugal.; ViraVector - Viral Vectors for Gene Transfer Core Facility, University of Coimbra, Coimbra, Portugal.; Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.; Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.; Nethisinhe S; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.; de Vries J; University Medical Center Groningen, Neurology, Groningen, The Netherlands.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Rijnstate Hospital, Arnhem, The Netherlands.; Synofzik M; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schöls L; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Juelich GmbH and RWTH Aachen University, Aachen, Germany.; Erdlenbruch F; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University of Duisburg, Essen, Germany.; Jacobi H; Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.; Infante J; University Hospital Marqués de Valdecilla-IDIVAL, Santander, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Universidad de Cantabria, Santander, Spain.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Klockgether T; German Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.; Faber J; German Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, University of Bonn, Bonn, Germany.; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany.; Hübener-Schmid J; Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Weber, Jonasz J; Haas, Eva; Maringer, Yacine; Hauser, Stefan; Casadei, Nicolas L P; Chishti, Athar H; Riess, Olaf; Hübener-Schmid, Jeannette

Human molecular genetics 29(6), 892-906 (2020). doi:10.1093/hmg/ddaa010

Anna S. Sowa; Taissia G. Popova; Tina Harmuth; Jonasz J. Weber; Priscila Pereira Sena; Jana Schmidt; Jeannette Hübener-Schmid; Thorsten Schmidt

Molecular Brain, Vol 14, Iss 1, Pp 1-10 (2021)

Lauerer M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Faber J; German Center for Neurodegenerative Diseases, Bonn, Germany.; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, University of Bonn, Bonn, Germany.; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany.; Casadei N; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany.; Santana MM; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.; Auburger G; Experimental Neurology, Clinic of Neurology, Medical School, Goethe University, Frankfurt am Main, Germany.; Pogoda M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany.; Admard J; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany.; Kaupp L; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Kos PL; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Raposo M; IBMC - Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, i3S, Portugal.; Lima M; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.; de Almeida LP; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra (IIIUC), Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), Coimbra, Portugal.; Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.; Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.; de Vries J; University Medical Center Groningen, Neurology, Groningen, The Netherlands.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Rijnstate Hospital, Arnhem, The Netherlands.; Grobe-Einsler M; German Center for Neurodegenerative Diseases, Bonn, Germany.; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, University of Bonn, Bonn, Germany.; Koyak B; German Center for Neurodegenerative Diseases, Bonn, Germany.; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, University of Bonn, Bonn, Germany.; Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Juelich GmbH and RWTH Aachen University, Aachen, Germany.; Erdlenbruch F; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Jacobi H; Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.; Infante J; University Hospital Marqués de Valdecilla-IDIVAL, Santander, Spain.; Centro de investigación biomédica en red de enfermedades neurodegenerativas (CIBERNED), Universidad de Cantabria, Santander, Spain.; Hengel H; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany.; Schöls L; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany.; Klockgether T; German Center for Neurodegenerative Diseases, Bonn, Germany.; Rieß O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany.; Hübener-Schmid J; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany. Jeannette.huebener@med.uni-tuebingen.de.; Center for Rare Disease, University of Tübingen, Tübingen, Germany. Jeannette.huebener@med.uni-tuebingen.de.

Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

Martier, Raygene ; Sogorb-Gonzalez, Marina ; Stricker-Shaver, Janice ; Hübener-Schmid, Jeannette ; Keskin, Sonay ; Klima, Jiri ; Toonen, Lodewijk J. ; Juhas, Stefan ; Juhasova, Jana ; Ellederova, Zdenka ; Motlik, Jan ; Haas, Eva ; van Deventer, Sander ; Konstantinova, Pavlina ; Nguyen, Huu Phuc ; Evers, Melvin M.

In Molecular Therapy - Methods & Clinical Development 13 December 2019 15:343-358

Priscila Pereira Sena; Jonasz J. Weber; Maxinne Watchon; Katherine J. Robinson; Zinah Wassouf; Stefan Hauser; Jacob Helm; Mahkameh Abeditashi; Jana Schmidt; Jeannette Hübener-Schmid; Ludger Schöls; Angela S. Laird; Olaf Riess; Thorsten Schmidt

Proceedings of the National Academy of Sciences of the United States of America 118(47), e2025810118 (2021). doi:10.1073/pnas.2025810118

Maas, Roderick P. P. W. M.; Teerenstra, Steven; Lima, Manuela; Pires, Paula; Pereira de Almeida, Luís; Gaalen, Judith van; Timmann, Dagmar; Infante Ceberio, Jon; Onyike, Chiadi; Bushara, Khalaf; Jacobi, Heike; Reetz, Kathrin; Santana, Magda M.; Afonso Ribeiro, Joana; Hübener-Schmid, Jeannette; Vries, Jeroen J. de; Synofzik, Matthis; Schöls, Ludger; García-Moreno, Héctor; Giunti, Paola

Movement Disorders, 2022, 37(9), 1850-1860
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)

Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Martus P; Institute of Clinical Epidemiology and Applied Biostatistics, University of Tübingen, Tübingen, Germany.; Faber J; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany.; Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.; Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.; Solanky N; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.; Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany.; Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-Brain Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich, Jülich, Germany.; van de Warrenburg BP; Donders Institute for Brain, Cognition and Behaviour, Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.; Santana MM; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.; Center for Innovation in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Silva P; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.; Center for Innovation in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.; Cunha I; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.; Center for Innovation in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; de Almeida LP; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.; Center for Innovation in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.; Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.; Infante J; Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL, University of Cantabria (UC), Santander, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; de Vries J; Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.; Lima M; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.; Pires P; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.; Bushara K; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.; Jacobi H; Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.; Onyike C; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Schmahmann JD; Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Hübener-Schmid J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.; Synofzik M; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany. ludger.schoels@uni-tuebingen.de.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. ludger.schoels@uni-tuebingen.de.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE; PubMed not MEDLINE

Weber, Jonasz J.; Golla, Matthias; Guaitoli, Giambattista; Wanichawan, Pimthanya; Hayer, Stefanie N.; Hauser, Stefan; Krahl, Ann-Christin; Nagel, Maike; Samer, Sebastian; Aronica, Eleonora; Carlson, Cathrine R.; Schöls, Ludger; Riess, Olaf; Gloeckner, Christian J.; Nguyen, Huu P.; Hübener-Schmid, Jeannette

Brain 140(5), 1280-1299 (2017). doi:10.1093/brain/awx039