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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Schöls L, et al. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. Brain. 2017. PMID: 29126212 Free PMC article. Clinical Trial.
Mutation at the SCA17 locus is not a common cause of primary dystonia.
Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O. Grundmann K, et al. Among authors: schols l. J Neurol. 2004 Oct;251(10):1232-4. doi: 10.1007/s00415-004-0520-2. J Neurol. 2004. PMID: 15503103
CAG repeats in Restless Legs syndrome.
Konieczny M, Bauer P, Tomiuk J, Weisser G, Haan J, Berger K, Riess O, Schöls L. Konieczny M, et al. Among authors: schols l. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):173-6. doi: 10.1002/ajmg.b.30265. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389595
Cerebrotendinous xanthomatosis.
Schöls L, Nägele T, Schüle R, Berg D. Schöls L, et al. Neurology. 2006 Dec 12;67(11):E20. doi: 10.1212/01.wnl.0000247673.08554.0f. Neurology. 2006. PMID: 17159091 No abstract available.
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Hehr U, et al. Among authors: schols l. Ann Neurol. 2007 Dec;62(6):656-65. doi: 10.1002/ana.21310. Ann Neurol. 2007. PMID: 18067136
509 results