Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study von Jacobi, Heike, MD, du Montcel, Sophie Tezenas, PhD, Bauer, Peter, MD, Giunti, Paola, PhD, Cook, Arron, MBBS, Labrum, Robyn, MD, Parkinson, Michael H, MBBS, Durr, Alexandra, PhD, Brice, Alexis, Prof, Charles, Perrine, MD, Marelli, Cecilia, MD, Mariotti, Caterina, MD, Nanetti, Lorenzo, MD, Panzeri, Marta, MD, Rakowicz, Maria, MD, Sulek, Anna, PhD, Sobanska, Anna, MD, Schmitz-Hübsch, Tanja, MD, Schöls, Ludger, MD, Hengel, Holger, MD, Baliko, Laszlo, MD, Melegh, Bela, Prof, Filla, Alessandro, Prof, Antenora, Antonella, MD, Infante, Jon, MD, Berciano, José, Prof, van de Warrenburg, Bart P, PhD, Timmann, Dagmar, MD, Szymanski, Sandra, MD, Boesch, Sylvia, MD, Kang, Jun-Suk, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof, Molho, Sonia, MSc, Diallo, Alhassane, MD, Klockgether, Thomas, Prof

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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease von Traschütz, Andreas, Cortese, Andrea, Reich, Selina, Dominik, Natalia, Faber, Jennifer, Jacobi, Heike, Hartmann, Annette M., Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A., Sturm, Marc, Haack, Tobias B., Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P., Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Basak, A. Nazli, Synofzik, Matthis

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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients von Schüle, Rebecca, Wiethoff, Sarah, Martus, Peter, Karle, Kathrin N., Otto, Susanne, Klebe, Stephan, Klimpe, Sven, Gallenmüller, Constanze, Kurzwelly, Delia, Henkel, Dorothea, Rimmele, Florian, Stolze, Henning, Kohl, Zacharias, Kassubek, Jan, Klockgether, Thomas, Vielhaber, Stefan, Kamm, Christoph, Klopstock, Thomas, Bauer, Peter, Züchner, Stephan, Liepelt-Scarfone, Inga, Schöls, Ludger

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Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7 von Rüb, Udo, Schöls, Ludger, Paulson, Henry, Auburger, Georg, Kermer, Pawel, Jen, Joanna C, Seidel, Kay, Korf, Horst-Werner, Deller, Thomas

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Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data von Jacobi, Heike, MD, Reetz, Kathrin, MD, du Montcel, Sophie Tezenas, PhD, Bauer, Peter, MD, Mariotti, Caterina, MD, Nanetti, Lorenzo, MD, Rakowicz, Maria, PhD, Sulek, Anna, PhD, Durr, Alexandra, PhD, Charles, Perrine, PhD, Filla, Alessandro, Prof, Antenora, Antonella, MD, Schöls, Ludger, MD, Schicks, Julia, MD, Infante, Jon, MD, Kang, Jun-Suk, MD, Timmann, Dagmar, MD, Fabio, Roberto Di, MD, Masciullo, Marcella, MD, Baliko, Laszlo, MD, Melegh, Bela, Prof, Boesch, Sylvia, MD, Bürk, Katrin, MD, Peltz, Annkathrin, Schulz, Jörg B, Prof, Dufaure-Garé, Isabelle, PhD, Klockgether, Thomas, Prof

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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study von Reetz, Kathrin, MD, Dogan, Imis, PhD, Hilgers, Ralf-Dieter, Prof, Giunti, Paola, MD, Mariotti, Caterina, MD, Durr, Alexandra, MD, Boesch, Sylvia, MD, Klopstock, Thomas, MD, de Rivera, Francisco Javier Rodriguez, MD, Schöls, Ludger, Prof, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Rai, Myriam, PhD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof

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Towards Personalized Allele-Specific Antisense Oligonucleotide Therapies for Toxic Gain-of-Function Neurodegenerative Diseases von Helm, Jacob, Schöls, Ludger, Hauser, Stefan

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Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study von Wilke, Carlo, Bender, Friedemann, Hayer, Stefanie N., Brockmann, Kathrin, Schöls, Ludger, Kuhle, Jens, Synofzik, Matthis

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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data von Reetz, Kathrin, Prof, Dogan, Imis, PhD, Costa, Ana S, MSc, Dafotakis, Manuel, MD, Fedosov, Kathrin, MSc, Giunti, Paola, MD, Parkinson, Michael H, MBBS, Sweeney, Mary G, BSc, Mariotti, Caterina, MD, Panzeri, Marta, MD, Nanetti, Lorenzo, MD, Arpa, Javier, MD, Sanz-Gallego, Irene, MD, Durr, Alexandra, Prof, Charles, Perrine, MD, Boesch, Sylvia, MD, Nachbauer, Wolfgang, MD, Klopstock, Thomas, MD, Karin, Ivan, MD, Depondt, Chantal, MD, vom Hagen, Jennifer Müller, MD, Schöls, Ludger, Prof, Giordano, Ilaria A, MD, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof Dr

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Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial von Muth, Carolin, Teufel, Julian, Schöls, Ludger, Synofzik, Matthis, Franke, Christiana, Timmann, Dagmar, Mansmann, Ulrich, Strupp, Michael

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy von Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R

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Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia von Thierfelder, Annika, Seemann, Jens, John, Natalie, Harmuth, Florian, Giese, Martin, Schüle, Rebecca, Schöls, Ludger, Timmann, Dagmar, Synofzik, Matthis, Ilg, Winfried

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Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3 von Garcia‐Moreno, Hector, Prudencio, Mercedes, Thomas‐Black, Gilbert, Solanky, Nita, Jansen‐West, Karen R., Hanna AL‐Shaikh, Rana, Heslegrave, Amanda, Zetterberg, Henrik, Santana, Magda M., Pereira de Almeida, Luis, Vasconcelos‐Ferreira, Ana, Januário, Cristina, Infante, Jon, Faber, Jennifer, Klockgether, Thomas, Reetz, Kathrin, Raposo, Mafalda, Ferreira, Ana F., Lima, Manuela, Schöls, Ludger, Synofzik, Matthis, Hübener‐Schmid, Jeannette, Puschmann, Andreas, Gorcenco, Sorina, Wszolek, Zbigniew K., Petrucelli, Leonard, Giunti, Paola

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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry von Altmann, Judith, Büchner, Boriana, Nadaj-Pakleza, Aleksandra, Schäfer, Jochen, Jackson, Sandra, Lehmann, Diana, Deschauer, Marcus, Kopajtich, Robert, Lautenschläger, Ronald, Kuhn, Klaus A., Karle, Kathrin, Schöls, Ludger, Schulz, Jörg B., Weis, Joachim, Prokisch, Holger, Kornblum, Cornelia, Claeys, Kristl G., Klopstock, Thomas

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Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6 von REETZ, Kathrin, COSTA, Ana S, GRISOLI, Marina, DÜRR, Alexandra, VAN DE WARRENBURG, Bart P, TIMMANN, Dagmar, PANDOLFO, Massimo, BAUER, Peter, JACOBI, Heike, HAUSER, Till-Karsten, KLOCKGETHER, Thomas, SCHULZ, Jörg B, MIRZAZADE, Shahram, LEHMANN, Anna, JUZEK, Agnes, RAKOWICZ, Maria, BOGUSLAWSKA, Romana, SCHÖLS, Ludger, LINNEMANN, Christoph, MARIOTTI, Caterina

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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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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications von Rattay, Tim W, Lindig, Tobias, Baets, Jonathan, Smets, Katrien, Deconinck, Tine, Söhn, Anne S, Hörtnagel, Konstanze, Eckstein, Kathrin N, Wiethoff, Sarah, Reichbauer, Jennifer, Döbler-Neumann, Marion, Krägeloh-Mann, Ingeborg, Auer-Grumbach, Michaela, Plecko, Barbara, Münchau, Alexander, Wilken, Bernd, Janauschek, Marc, Giese, Anne-Katrin, De Bleecker, Jan L, Ortibus, Els, Debyser, Martine, Lopez de Munain, Adolfo, Pujol, Aurora, Bassi, Maria Teresa, D'Angelo, Maria Grazia, De Jonghe, Peter, Züchner, Stephan, Bauer, Peter, Schöls, Ludger, Schüle, Rebecca

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy von Deschauer, Marcus, Hengel, Holger, Rupprich, Katrin, Kreiß, Martina, Schlotter-Weigel, Beate, Grimmel, Mona, Admard, Jakob, Schneider, Ilka, Alhaddad, Bader, Gazou, Anastasia, Sturm, Marc, Vorgerd, Matthias, Balousha, Ghassan, Balousha, Osama, Falna, Mohammed, Kirschke, Jan S, Kornblum, Cornelia, Jordan, Berit, Kraya, Torsten, Strom, Tim M, Weis, Joachim, Schöls, Ludger, Schara, Ulrike, Zierz, Stephan, Riess, Olaf, Meitinger, Thomas, Haack, Tobias B

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Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype von Synofzik, Matthis, Maetzler, Walter, Grehl, Torsten, Prudlo, Johannes, vom Hagen, Jennifer Müller, Haack, Tobias, Rebassoo, Piret, Munz, Marita, Schöls, Ludger, Biskup, Saskia

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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 von Montenegro, Gladys, Rebelo, Adriana P, Connell, James, Allison, Rachel, Babalini, Carla, D'Aloia, Michela, Montieri, Pasqua, Schüle, Rebecca, Ishiura, Hiroyuki, Price, Justin, Strickland, Alleene, Gonzalez, Michael A, Baumbach-Reardon, Lisa, Deconinck, Tine, Huang, Jia, Bernardi, Giorgio, Vance, Jeffery M, Rogers, Mark T, Tsuji, Shoji, De Jonghe, Peter, Pericak-Vance, Margaret A, Schöls, Ludger, Orlacchio, Antonio, Reid, Evan, Züchner, Stephan

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