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509 results

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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P. Synofzik M, et al. Among authors: schols l. Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17. Brain. 2016. PMID: 27086870 Free PMC article.
Do CTG expansions at the SCA8 locus cause ataxia?
Schöls L, Bauer I, Zühlke C, Schulte T, Kölmel C, Bürk K, Topka H, Bauer P, Przuntek H, Riess O. Schöls L, et al. Ann Neurol. 2003 Jul;54(1):110-5. doi: 10.1002/ana.10608. Ann Neurol. 2003. PMID: 12838526
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M. Moreira MC, et al. Among authors: schols l. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8. Nat Genet. 2004. PMID: 14770181 Free article.
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O. Hering R, et al. Among authors: schols l. Hum Mutat. 2004 Oct;24(4):321-9. doi: 10.1002/humu.20089. Hum Mutat. 2004. PMID: 15365989
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
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. Klebe S, et al. Among authors: schols l. Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628. Ann Neurol. 2005. PMID: 16193476
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
509 results