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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: rolfs a. 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.
Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K. Olschewski L, et al. Among authors: rolfs a. Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2. Parkinsonism Relat Disord. 2019. PMID: 30712998
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings.
Skrahina V, Gaber H, Vollstedt EJ, Förster TM, Usnich T, Curado F, Brüggemann N, Paul J, Bogdanovic X, Zülbahar S, Olmedillas M, Skobalj S, Ameziane N, Bauer P, Csoti I, Koleva-Alazeh N, Grittner U, Westenberger A, Kasten M, Beetz C, Klein C, Rolfs A; ROPAD Study Group. Skrahina V, et al. Among authors: rolfs a. Mov Disord. 2021 Apr;36(4):1005-1010. doi: 10.1002/mds.28416. Epub 2020 Dec 14. Mov Disord. 2021. PMID: 33314351 Free PMC article.
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.
Usnich T, Vollstedt EJ, Schell N, Skrahina V, Bogdanovic X, Gaber H, Förster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, Grünewald A, Schymanski EL, Trinh J, Schaake S, Berg D, Gruber D, Isaacson SH, Kühn AA, Mollenhauer B, Pedrosa DJ, Reetz K, Sammler EM, Valente EM, Valzania F, Volkmann J, Zittel S, Brüggemann N, Kasten M, Rolfs A, Klein C; LIPAD Study Group. Usnich T, et al. Among authors: rolfs a. Front Neurol. 2021 Aug 9;12:710572. doi: 10.3389/fneur.2021.710572. eCollection 2021. Front Neurol. 2021. PMID: 34475849 Free PMC article.
PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases.
Tan AH, Lohmann K, Tay YW, Lim JL, Ahmad-Annuar A, Ramli N, Chin YT, Mawardi AS, Azmi K, Aziz ZA, Puvanarajah SD, Bauer P, Klein C, Rolfs A, Lim SY. Tan AH, et al. Among authors: rolfs a. Parkinsonism Relat Disord. 2020 Oct;79:34-39. doi: 10.1016/j.parkreldis.2020.08.015. Epub 2020 Aug 19. Parkinsonism Relat Disord. 2020. PMID: 32861104
Utility and implications of exome sequencing in early-onset Parkinson's disease.
Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC); Klein C. Trinh J, et al. Among authors: rolfs a. Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10. Mov Disord. 2019. PMID: 30537300 Free PMC article.
Unmet needs in human genomic variant interpretation.
Bauer P, Karges E, Oprea G, Rolfs A. Bauer P, et al. Among authors: rolfs a. Genet Med. 2018 Mar;20(3):376-377. doi: 10.1038/gim.2017.187. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261185 Free article. No abstract available.
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Beetz C, Westenberger A, Al-Ali R, Ameziane N, Alhashmi N, Boustany RM, Al Mutairi F, Alfadhel M, Al-Hassnan Z, AlSayed M, Kandaswamy KK, Paknia O, Skrahina V, Rolfs A, Bauer P. Beetz C, et al. Among authors: rolfs a. Mov Disord. 2021 Apr;36(4):1029-1031. doi: 10.1002/mds.28452. Epub 2021 Jan 12. Mov Disord. 2021. PMID: 33433017 Free PMC article. No abstract available.
419 results