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A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L. Schlipf NA, et al. Among authors: bauer p. Eur J Hum Genet. 2010 Sep;18(9):1065-7. doi: 10.1038/ejhg.2010.68. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461110 Free PMC 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: bauer p, bauer a. 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: bauer p. J Neurol. 2004 Oct;251(10):1232-4. doi: 10.1007/s00415-004-0520-2. J Neurol. 2004. PMID: 15503103
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.
Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel WH, Bauer P, Krueger R, Gasser T, Riess O. Berg D, et al. Among authors: bauer p. Mov Disord. 2005 Sep;20(9):1191-4. doi: 10.1002/mds.20504. Mov Disord. 2005. PMID: 15895422
1,692 results