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Page 1
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.
Radefeldt M, Lemke S, Chaichoompu K, Paul JJ, Curado F, Valzania F, Cavallieri F, Fioravanti V, Valente EM, Avenali M, Negrotti A, Hanagasi HA, Thonke S, Matarazzo M, Panzavolta A, Cerami C, Westenberger A, Klein C, Bauer P, Beetz C. Radefeldt M, et al. Mov Disord. 2024 Oct 26. doi: 10.1002/mds.30041. Online ahead of print. Mov Disord. 2024. PMID: 39460989
RAB32 mutation in Parkinson's disease.
Beetz C, Radefeldt M, Tripolszki K, Kandaswamy KK, Bauer P; ROPAD Study Group. Beetz C, et al. Among authors: radefeldt m. Lancet Neurol. 2024 Oct;23(10):961. doi: 10.1016/S1474-4422(24)00323-5. Lancet Neurol. 2024. PMID: 39304251 No abstract available.
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin HE, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, Lemke S, Rahbeeni Z, Al Mutairi F, Ababneh F, AlRukban HA, Abdulwahab F, Alhajj SM, Bauer P, Bertoli-Avella A, Alkuraya FS. Shamseldin HE, et al. Among authors: radefeldt m. Hum Genet. 2023 Oct;142(10):1491-1498. doi: 10.1007/s00439-023-02597-3. Epub 2023 Sep 1. Hum Genet. 2023. PMID: 37656279
Inhibitory Response to CK II Inhibitor Silmitasertib and CDKs Inhibitor Dinaciclib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines.
Ma Y, Sender S, Sekora A, Kong W, Bauer P, Ameziane N, Krake S, Radefeldt M, Al-Ali R, Weiss FU, Lerch MM, Parveen A, Zechner D, Junghanss C, Murua Escobar H. Ma Y, et al. Among authors: radefeldt m. Int J Mol Sci. 2022 Apr 16;23(8):4409. doi: 10.3390/ijms23084409. Int J Mol Sci. 2022. PMID: 35457227 Free PMC article.
The Inhibitory Response to PI3K/AKT Pathway Inhibitors MK-2206 and Buparlisib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines.
Ma Y, Sender S, Sekora A, Kong W, Bauer P, Ameziane N, Al-Ali R, Krake S, Radefeldt M, Weiss FU, Lerch MM, Parveen A, Zechner D, Junghanss C, Murua Escobar H. Ma Y, et al. Among authors: radefeldt m. Int J Mol Sci. 2022 Apr 13;23(8):4295. doi: 10.3390/ijms23084295. Int J Mol Sci. 2022. PMID: 35457111 Free PMC article.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P. Bertoli-Avella A, et al. Among authors: radefeldt m. J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24. J Med Genet. 2022. PMID: 34952832 Free PMC article.
Rapid Large-Scale COVID-19 Testing During Shortages.
Beetz C, Skrahina V, Förster TM, Gaber H, Paul JJ, Curado F, Rolfs A, Bauer P, Schäfer S, Weckesser V, Lieu V, Radefeldt M, Pöppel C, Krake S, Kandaswamy KK, Bruesehafer K, Vogel F. Beetz C, et al. Among authors: radefeldt m. Diagnostics (Basel). 2020 Jul 8;10(7):464. doi: 10.3390/diagnostics10070464. Diagnostics (Basel). 2020. PMID: 32650631 Free PMC article.