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Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Westenberger A, Ruiz-Herrera A, Bozdoğan S, Bisgin A, Almuqbil M, Alhashem A, Alanzi T, Romito A, Rolfs A, Dias P, Gouveia Silva R, Bertoli-Avella AM, Bauer P, Beetz C. Westenberger A, et al. Among authors: rolfs a. Mov Disord. 2023 Mar;38(3):502-504. doi: 10.1002/mds.29323. Epub 2023 Feb 13. Mov Disord. 2023. PMID: 36781603 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: rolfs a. Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12. Mov Disord. 2024. PMID: 38214203
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: rolfs a. Parkinsonism Relat Disord. 2023 Jun;111:105399. doi: 10.1016/j.parkreldis.2023.105399. Epub 2023 Apr 15. Parkinsonism Relat Disord. 2023. PMID: 37209484
Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease.
Tkemaladze T, Kvaratskhelia E, Ghughunishvili M, Rtskhiladze I, Zaalishvili Z, Nakaidze N, Lentze MJ, Abzianidze E, Skrahina V, Rolfs A. Tkemaladze T, et al. Among authors: rolfs a. SAGE Open Med Case Rep. 2023 May 29;11:2050313X231177163. doi: 10.1177/2050313X231177163. eCollection 2023. SAGE Open Med Case Rep. 2023. PMID: 37274939 Free PMC article.
Venglustat in GBA1-related Parkinson's disease.
Zimran A, Revel-Vilk S, Becker-Cohen M, Istaiti M, Rolfs A. Zimran A, et al. Among authors: rolfs a. Lancet Neurol. 2024 Feb;23(2):137. doi: 10.1016/S1474-4422(23)00455-6. Lancet Neurol. 2024. PMID: 38267177 No abstract available.
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F, Rösner S, Zielke S, Westphal G, Grittner U, Skrahina V, Alasel M, Malik AM, Beetz C, Böttcher T, Barel G, Sah AP, Dinur T, Anjum N, Ichraf Q, Kriouile Y, Hadipour Z, Hadipour F, Revel-Vilk S, Cozma C, Hartkamp J, Cheema H, Zimran A, Bauer P, Rolfs A; LYSO-PROOF Study Group. Curado F, et al. Among authors: rolfs a. Diagnostics (Basel). 2023 Aug 30;13(17):2812. doi: 10.3390/diagnostics13172812. Diagnostics (Basel). 2023. PMID: 37685353 Free PMC article.
419 results