Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patie... by Julie Vallortigara, Julie Greenfield, Barry Hunt, Holm Graessner, Carola Reinhard, Andreas Nadke, Bart-Jan Schuman, Deborah Hoffman, Steve Morris, Paola Giunti

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The role of interruptions in polyQ in the pathology of SCA1. by Rajesh P Menon, Suran Nethisinghe, Serena Faggiano, Tommaso Vannocci, Human Rezaei, Sally Pemble, Mary G Sweeney, Nicholas W Wood, Mary B Davis, Annalisa Pastore, Paola Giunti

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The organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria by Sara Cannizzo, Vinciane Quoidbach, Leopoldo Trieste, Monika Benson, Antonio Federico, Alessandro Filla, Bernadette Sheehan Gilroy, Paola Giunti, Holm Graeßner, Julie Greenfield, Tobias Hagedorn, Alvaro Hermida, Barry Hunt, Anita MacDonald, Francesca Morgante, Wolfgang Oertel, Gregory Pastores, Martje G. Pauly, Carola Reinhard, Maja Relja, Eileen Treacy, Francjan Van Spronsen, Julie Vallortigara, Giuseppe Turchetti

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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. by Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R J McKinlay Gardner, Susan M Forrest, Elizabeth M C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton

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Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis by Marilena Lauerer, Jennifer Faber, Nicolas Casadei, Magda M. Santana, Georg Auburger, Michaela Pogoda, Jakob Admard, Lea Kaupp, Patricia Laura Kos, Mafalda Raposo, Manuela Lima, Luis Pereira de Almeida, Hector Garcia-Moreno, Paola Giunti, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Marcus Grobe-Einsler, Berkan Koyak, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Holger Hengel, Ludger Schöls, Thomas Klockgether, Olaf Rieß, Jeannette Hübener-Schmid, ESMI study group

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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

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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

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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

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