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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
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.
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.
Exploring environmental modifiers of LRRK2-associated Parkinson's disease penetrance: An exposomics and metagenomics pilot study on household dust.
Talavera Andújar B, Pereira SL, Busi SB, Usnich T, Borsche M, Ertan S, Bauer P, Rolfs A, Hezzaz S, Ghelfi J, Brüggemann N, Antony P, Wilmes P, Klein C, Grünewald A, Schymanski EL. Talavera Andújar B, et al. Among authors: rolfs a. Environ Int. 2024 Nov 16;194:109151. doi: 10.1016/j.envint.2024.109151. Online ahead of print. Environ Int. 2024. PMID: 39571299
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.
Rösner S, Pardo LM, Bertoli-Avella AM, Skrahina V, Engel P, Schröder S, Zielske S, Bonke V, Kreth J, Westphal G, Reder F, Skobalj S, Zielke S, Bogdanovic X, Grieger P, Rennecke J, Skripuletz T, Patten M, Aßmus B, Hahn K, Rolfs A, Bauer P; TRAM study. Rösner S, et al. Among authors: rolfs a. J Clin Med. 2024 Oct 17;13(20):6197. doi: 10.3390/jcm13206197. J Clin Med. 2024. PMID: 39458146 Free PMC article.
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A, Skrahina V, Usnich T, Beetz C, Vollstedt EJ, Laabs BH, Paul JJ, Curado F, Skobalj S, Gaber H, Olmedillas M, Bogdanovic X, Ameziane N, Schell N, Aasly JO, Afshari M, Agarwal P, Aldred J, Alonso-Frech F, Anderson R, Araújo R, Arkadir D, Avenali M, Balal M, Benizri S, Bette S, Bhatia P, Bonello M, Braga-Neto P, Brauneis S, Cardoso FEC, Cavallieri F, Classen J, Cohen L, Coletta D, Crosiers D, Cullufi P, Dashtipour K, Demirkiran M, de Carvalho Aguiar P, De Rosa A, Djaldetti R, Dogu O, Dos Santos Ghilardi MG, Eggers C, Elibol B, Ellenbogen A, Ertan S, Fabiani G, Falkenburger BH, Farrow S, Fay-Karmon T, Ferencz GJ, Fonoff ET, Fragoso YD, Genç G, Gorospe A, Grandas F, Gruber D, Gudesblatt M, Gurevich T, Hagenah J, Hanagasi HA, Hassin-Baer S, Hauser RA, Hernández-Vara J, Herting B, Hinson VK, Hogg E, Hu MT, Hummelgen E, Hussey K, Infante J, Isaacson SH, Jauma S, Koleva-Alazeh N, Kuhlenbäumer G, Kühn A, Litvan I, López-Manzanares L, Luxmore M, Manandhar S, Marcaud V, Markopoulou K, Marras C, McKenzie M, Matarazzo M, Merello M, Mollenhauer B, Morgan JC, Mullin S, Musacchio T, Myers B, Negrotti A, Nieves A, Nitsan Z, Oskooilar N, Öztop-Çakmak Ö, Pal G, Pavese N, Percesepe A, P… See abstract for full author list ➔ Westenberger A, et al. Among authors: rolfs a. Brain. 2024 Aug 1;147(8):2652-2667. doi: 10.1093/brain/awae188. Brain. 2024. PMID: 39087914 Free PMC article.
426 results