Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
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
Published in Lancet neurology (01.11.2015)
Published in Lancet neurology (01.11.2015)
Get full text
Journal Article
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
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
Published in Neurology (02.03.2021)
Published in Neurology (02.03.2021)
Get more information
Journal Article
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
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
Published in Annals of neurology (01.04.2016)
Published in Annals of neurology (01.04.2016)
Get full text
Journal Article
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7
Rüb, Udo, Schöls, Ludger, Paulson, Henry, Auburger, Georg, Kermer, Pawel, Jen, Joanna C, Seidel, Kay, Korf, Horst-Werner, Deller, Thomas
Published in Progress in neurobiology (01.05.2013)
Published in Progress in neurobiology (01.05.2013)
Get full text
Journal Article
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
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
Published in Lancet neurology (01.07.2013)
Published in Lancet neurology (01.07.2013)
Get full text
Journal Article
Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia
Thierfelder, Annika, Seemann, Jens, John, Natalie, Harmuth, Florian, Giese, Martin, Schüle, Rebecca, Schöls, Ludger, Timmann, Dagmar, Synofzik, Matthis, Ilg, Winfried
Published in Movement disorders (01.05.2022)
Published in Movement disorders (01.05.2022)
Get full text
Journal Article
Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study
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
Published in Lancet neurology (01.12.2016)
Published in Lancet neurology (01.12.2016)
Get full text
Journal Article
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data
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
Published in Lancet neurology (01.02.2015)
Published in Lancet neurology (01.02.2015)
Get full text
Journal Article
Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial
Muth, Carolin, Teufel, Julian, Schöls, Ludger, Synofzik, Matthis, Franke, Christiana, Timmann, Dagmar, Mansmann, Ulrich, Strupp, Michael
Published in Neurology. Clinical practice (01.08.2021)
Published in Neurology. Clinical practice (01.08.2021)
Get full text
Journal Article
Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3
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
Published in European journal of neurology (01.08.2022)
Published in European journal of neurology (01.08.2022)
Get full text
Journal Article
Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study
Wilke, Carlo, Bender, Friedemann, Hayer, Stefanie N., Brockmann, Kathrin, Schöls, Ludger, Kuhle, Jens, Synofzik, Matthis
Published in Journal of neurology (01.07.2018)
Published in Journal of neurology (01.07.2018)
Get full text
Journal Article
Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry
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
Published in Journal of neurology (01.05.2016)
Published in Journal of neurology (01.05.2016)
Get full text
Journal Article
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
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
Published in Nature genetics (01.04.2015)
Published in Nature genetics (01.04.2015)
Get full text
Journal Article
Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity
Ilg, Winfried, Fleszar, Zofia, Schatton, Cornelia, Hengel, Holger, Harmuth, Florian, Bauer, Peter, Timmann, Dagmar, Giese, Martin, Schöls, Ludger, Synofzik, Matthis
Published in Movement disorders (01.12.2016)
Published in Movement disorders (01.12.2016)
Get full text
Journal Article
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6
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
Published in Brain (London, England : 1878) (01.03.2013)
Published in Brain (London, England : 1878) (01.03.2013)
Get full text
Journal Article
Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis
Höflinger, Philip, Hauser, Stefan, Yutuc, Eylan, Hengel, Holger, Griffiths, Lauren, Radelfahr, Florentine, Howell, Owain W., Wang, Yuqin, Connor, Sonja L., Duell, P. Barton, DeBarber, Andrea E., Martus, Peter, Lütjohann, Dieter, Griffiths, William J., Schöls, Ludger
Published in Journal of lipid research (01.01.2021)
Published in Journal of lipid research (01.01.2021)
Get full text
Journal Article
Bi-allelic truncating mutations in VWA1 cause neuromyopathy
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
Published in Brain (London, England : 1878) (03.03.2021)
Published in Brain (London, England : 1878) (03.03.2021)
Get full text
Journal Article
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype
Synofzik, Matthis, Maetzler, Walter, Grehl, Torsten, Prudlo, Johannes, vom Hagen, Jennifer Müller, Haack, Tobias, Rebassoo, Piret, Munz, Marita, Schöls, Ludger, Biskup, Saskia
Published in Neurobiology of aging (01.12.2012)
Published in Neurobiology of aging (01.12.2012)
Get full text
Journal Article
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
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
Published in The Journal of clinical investigation (01.02.2012)
Published in The Journal of clinical investigation (01.02.2012)
Get full text
Journal Article