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)
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Journal Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
Synofzik, Matthis, Soehn, Anne S, Gburek-Augustat, Janina, Schicks, Julia, Karle, Kathrin N, Schüle, Rebecca, Haack, Tobias B, Schöning, Martin, Biskup, Saskia, Rudnik-Schöneborn, Sabine, Senderek, Jan, Hoffmann, Karl-Titus, MacLeod, Patrick, Schwarz, Johannes, Bender, Benjamin, Krüger, Stefan, Kreuz, Friedmar, Bauer, Peter, Schöls, Ludger
Published in Orphanet journal of rare diseases (15.03.2013)
Published in Orphanet journal of rare diseases (15.03.2013)
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Journal Article
Video game-based coordinative training improves ataxia in children with degenerative ataxia
Ilg, Winfried, Schatton, Cornelia, Schicks, Julia, Giese, Martin A, Schöls, Ludger, Synofzik, Matthis
Published in Neurology (13.11.2012)
Published in Neurology (13.11.2012)
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Journal Article
POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe
Schicks, Julia, Synofzik, Matthis, Schulte, Claudia, Schöls, Ludger
Published in Movement disorders (15.11.2010)
Published in Movement disorders (15.11.2010)
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Journal Article
Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation
Synofzik, Matthis, Schicks, Julia, Wilhelm, Christian, Bornemann, Antje, Schöls, Ludger
Published in European journal of neurology (01.10.2012)
Published in European journal of neurology (01.10.2012)
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Journal Article
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation
Synofzik, Matthis, Schicks, Julia, Lindig, Tobias, Biskup, Saskia, Schmidt, Thorsten, Hansel, Jochen, Lehmann-Horn, Frank, Schöls, Ludger
Published in Journal of medical genetics (01.10.2011)
Published in Journal of medical genetics (01.10.2011)
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Journal Article
Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy
Schicks, Julia, Müller Vom Hagen, Jennifer, Bauer, Peter, Beck-Wödl, Stefanie, Biskup, Saskia, Krägeloh-Mann, Ingeborg, Schöls, Ludger, Synofzik, Matthis
Published in Neurology (19.03.2013)
Published in Neurology (19.03.2013)
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Journal Article
C harcot– M arie– T ooth hereditary neuropathy due to a mitochondrial ATP 6 mutation
Synofzik, Matthis, Schicks, Julia, Wilhelm, Christian, Bornemann, Antje, Schöls, Ludger
Published in European journal of neurology (01.10.2012)
Published in European journal of neurology (01.10.2012)
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Journal Article
Atypical juvenile parkinsonism in a consanguineous SPG15 family
Schicks, Julia, Synofzik, Matthis, Pétursson, Hjörvar, Huttenlocher, Johanna, Reimold, Matthias, Schöls, Ludger, Bauer, Peter
Published in Movement disorders (15.02.2011)
Published in Movement disorders (15.02.2011)
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Journal Article
Retinal nerve fiber layer loss in multiple system atrophy
Fischer, M.Dominik, Synofzik, Matthis, Heidlauf, Robert, Schicks, Julia, Srulijes, Karin, Kernstock, Christoph, Berg, Daniela, Schöls, Ludger, Schiefer, Ulrich
Published in Movement disorders (01.04.2011)
Published in Movement disorders (01.04.2011)
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Journal Article
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
Bauer, Peter, Leshinsky-Silver, Esther, Blumkin, Lubov, Schlipf, Nina, Schröder, Christopher, Schicks, Julia, Lev, Dorit, Riess, Olaf, Lerman-Sagie, Tally, Schöls, Ludger
Published in Neurogenetics (01.02.2012)
Published in Neurogenetics (01.02.2012)
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Journal Article
POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study
Synofzik, Matthis, Schicks, Julia, Srulijes, Karin, Schulte, Claudia, Schiele, Franziska, Berg, Daniela, Schöls, Ludger
Published in Journal of neurology (01.10.2012)
Published in Journal of neurology (01.10.2012)
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Journal Article
Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy
Fischer, M. Dominik, Synofzik, Matthis, Kernstock, Christoph, Dietzsch, Janko, Heidlauf, Robert, Schicks, Julia, Srulijes, Karin, Wiethoff, Sarah, Menn, Oliver, Berg, Daniela, Schöls, Ludger, Schiefer, Ulrich
Published in Graefe's archive for clinical and experimental ophthalmology (2013)
Published in Graefe's archive for clinical and experimental ophthalmology (2013)
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Journal Article
Atypical juvenile parkinsonism in a consanguineous SPG15 family
Schicks, Julia, Synofzik, Matthis, Pétursson, Hjörvar, Huttenlocher, Johanna, Reimold, Matthias, Schöls, Ludger, Bauer, Peter
Published in Movement disorders : official journal of the Movement Disorder Society (15.02.2011)
Published in Movement disorders : official journal of the Movement Disorder Society (15.02.2011)
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