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Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, Kustermann-Kuhn B, Bruchelt G, van Diggelen OP, Mayrhofer H, Krägeloh-Mann I. Harzer K, et al. Among authors: bauer p. Neuropediatrics. 2003 Dec;34(6):301-6. doi: 10.1055/s-2003-44668. Neuropediatrics. 2003. PMID: 14681755
Autosomal dominant Parkinson's disease in a large German pedigree.
Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tönnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C. Brüggemann N, et al. Among authors: bauer p. Acta Neurol Scand. 2012 Aug;126(2):129-37. doi: 10.1111/j.1600-0404.2011.01621.x. Epub 2011 Nov 23. Acta Neurol Scand. 2012. PMID: 22107061
Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family.
Cullufi P, Tabaku M, Beetz C, Tomori S, Velmishi V, Gjikopulli A, Bauer P, Wirth S, Rolfs A. Cullufi P, et al. Among authors: bauer p. Mol Genet Metab Rep. 2019 Oct 26;21:100532. doi: 10.1016/j.ymgmr.2019.100532. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31709146 Free PMC article.
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.
Bauer I, Gencik M, Laccone F, Peters H, Weber BH, Feder EH, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O. Bauer I, et al. Among authors: bauer p. Ann Neurol. 2002 May;51(5):662. doi: 10.1002/ana.10184. Ann Neurol. 2002. PMID: 12112122 No abstract available.
1,613 results