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Page 1
Diagnosis and treatment of Friedreich ataxia: a European perspective.
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Schulz JB, et al. Among authors: schols l. Nat Rev Neurol. 2009 Apr;5(4):222-34. doi: 10.1038/nrneurol.2009.26. Nat Rev Neurol. 2009. PMID: 19347027 Review.
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
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
Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI.
Meyer C, Schmid G, Görlitz S, Ernst M, Wilkens C, Wilhelms I, Kraus PH, Bauer P, Tomiuk J, Przuntek H, Mügge A, Schöls L. Meyer C, et al. Among authors: schols l. Mov Disord. 2007 Aug 15;22(11):1615-22. doi: 10.1002/mds.21590. Mov Disord. 2007. PMID: 17546670
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Globas C, du Montcel ST, Baliko L, Boesch S, Depondt C, DiDonato S, Durr A, Filla A, Klockgether T, Mariotti C, Melegh B, Rakowicz M, Ribai P, Rola R, Schmitz-Hubsch T, Szymanski S, Timmann D, Van de Warrenburg BP, Bauer P, Schols L. Globas C, et al. Among authors: schols l. Mov Disord. 2008 Nov 15;23(15):2232-8. doi: 10.1002/mds.22288. Mov Disord. 2008. PMID: 18759344
Comparison of three clinical rating scales in Friedreich ataxia (FRDA).
Bürk K, Mälzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hübsch T, Hering S, Lindig TM, Haug V, Timmann D, Degen I, Kruse B, Dörr JM, Ratzka S, Ivo A, Schöls L, Boesch S, Klockgether T, Klopstock T, Schulz JB. Bürk K, et al. Among authors: schols l. Mov Disord. 2009 Sep 15;24(12):1779-84. doi: 10.1002/mds.22660. Mov Disord. 2009. PMID: 19562766
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.
Schulz JB, Borkert J, Wolf S, Schmitz-Hübsch T, Rakowicz M, Mariotti C, Schöls L, Timmann D, van de Warrenburg B, Dürr A, Pandolfo M, Kang JS, Mandly AG, Nägele T, Grisoli M, Boguslawska R, Bauer P, Klockgether T, Hauser TK. Schulz JB, et al. Among authors: schols l. Neuroimage. 2010 Jan 1;49(1):158-68. doi: 10.1016/j.neuroimage.2009.07.027. Epub 2009 Jul 22. Neuroimage. 2010. PMID: 19631275
509 results