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Genetic study of early-onset Parkinson's disease in the Malaysian population.
Tay YW, Tan AH, Lim JL, Lohmann K, Ibrahim KA, Abdul Aziz Z, Chin YT, Mawardi AS, Lim TT, Looi I, Chia YK, Ooi JCE, Cheah WK, Dy Closas AMF, Lit LC, Hor JW, Toh TS, Muthusamy KA, Bauer P, Skrahin V, Rolfs A, Klein C, Ahmad-Annuar A, Lim SY. Tay YW, et al. Among authors: bauer p. Parkinsonism Relat Disord. 2023 Jun;111:105399. doi: 10.1016/j.parkreldis.2023.105399. Epub 2023 Apr 15. Parkinsonism Relat Disord. 2023. PMID: 37209484
Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants.
Usnich T, Olmedillas M, Schell N, Paul JJ, Curado F, Skobalj S, Csoti I, Ertan S, Gruber D, Zittel S, Sammler E, Isaacson SH, Kühn AA, Pedrosa DJ, Reetz K, Kasten M, Rolfs A, Bauer P, Skrahina V, Klein C, Brüggemann N; LIPAD Study Group. Usnich T, et al. Among authors: bauer p. Parkinsonism Relat Disord. 2023 Feb;107:105248. doi: 10.1016/j.parkreldis.2022.105248. Epub 2022 Dec 17. Parkinsonism Relat Disord. 2023. PMID: 36565535 No abstract available.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M, Marth K, Loens S, Everding J, Junker J, Borngräber F, Ott F, Jesús S, Gelderblom M, Odorfer T, Kuhlenbäumer G, Kim HJ, Schaeffer E, Becktepe J, Kasten M, Brüggemann N, Pfister R, Kollewe K, Krauss JK, Lohmann E, Hinrichs F, Berg D, Jeon B, Busch H, Altenmüller E, Mir P, Kamm C, Volkmann J, Zittel S, Ferbert A, Zeuner KE, Rolfs A, Bauer P, Kühn AA, Bäumer T, Klein C, Lohmann K. Thomsen M, et al. Among authors: bauer p. Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12. Mov Disord. 2024. PMID: 38214203
How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.
Strunk D, Becker J, Veltkamp R, Meuth SG, Bauer P, Böttcher T, Rolfs A, Schwitalla JC, Kraemer M. Strunk D, et al. Among authors: bauer p. Neurol Sci. 2023 Apr;44(4):1375-1381. doi: 10.1007/s10072-022-06533-7. Epub 2022 Dec 2. Neurol Sci. 2023. PMID: 36456878 Review.
A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism.
Di Rauso G, Cavallieri F, Monfrini E, Fraternali A, Fioravanti V, Grisanti S, Gessani A, Campanini I, Merlo A, Toschi G, Napoli M, Pascarella R, Silipigni R, Finelli P, Paul JJ, Bauer P, Versari A, Di Fonzo A, Valzania F. Di Rauso G, et al. Among authors: bauer p. J Mov Disord. 2024 Apr;17(2):236-238. doi: 10.14802/jmd.23222. Epub 2024 Jan 23. J Mov Disord. 2024. PMID: 38258373 Free PMC article. No abstract available.
1,620 results