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419 results

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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.
A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk.
Becker-Cohen M, Zimran A, Dinur T, Tiomkin M, Cozma C, Rolfs A, Arkadir D, Shulman E, Manor O, Paltiel O, Yahalom G, Berg D, Revel-Vilk S. Becker-Cohen M, et al. Among authors: rolfs a. Int J Mol Sci. 2022 Oct 13;23(20):12211. doi: 10.3390/ijms232012211. Int J Mol Sci. 2022. PMID: 36293067 Free PMC article.
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: rolfs a. 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.
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.
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
Rolfs A, Fazekas F, Grittner U, Dichgans M, Martus P, Holzhausen M, Böttcher T, Heuschmann PU, Tatlisumak T, Tanislav C, Jungehulsing GJ, Giese AK, Putaala J, Huber R, Bodechtel U, Lichy C, Enzinger C, Schmidt R, Hennerici MG, Kaps M, Kessler C, Lackner K, Paschke E, Meyer W, Mascher H, Riess O, Kolodny E, Norrving B; Stroke in Young Fabry Patients (sifap) Investigators. Rolfs A, et al. Stroke. 2013 Feb;44(2):340-9. doi: 10.1161/STROKEAHA.112.663708. Epub 2013 Jan 10. Stroke. 2013. PMID: 23306324 Clinical Trial.
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
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.
419 results