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Page 1
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K. Dulovic-Mahlow M, et al. Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230721 Free PMC article.
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N. Trinh J, et al. Among authors: dulovic mahlow m. J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20. J Neurol. 2020. PMID: 31745726
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
Dulovic-Mahlow M, König IR, Trinh J, Diaw SH, Urban PP, Knappe E, Kuhnke N, Ingwersen LC, Hinrichs F, Weber J, Kupnicka P, Balck A, Delcambre S, Vollbrandt T, Grünewald A, Klein C, Seibler P, Lohmann K. Dulovic-Mahlow M, et al. Ann Neurol. 2021 Jan;89(1):158-164. doi: 10.1002/ana.25942. Epub 2020 Nov 4. Ann Neurol. 2021. PMID: 33094862
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Wittke C, Petkovic S, Dobricic V, Schaake S; MDS‐endorsed PSP Study Group; Respondek G, Weissbach A, Madoev H, Trinh J, Vollstedt EJ, Kuhnke N, Lohmann K, Dulovic Mahlow M, Marras C, König IR, Stamelou M, Bonifati V, Lill CM, Kasten M, Huppertz HJ, Höglinger G, Klein C. Wittke C, et al. Among authors: dulovic mahlow m. Mov Disord. 2021 Jul;36(7):1499-1510. doi: 10.1002/mds.28517. Epub 2021 Mar 19. Mov Disord. 2021. PMID: 34396589 Free PMC article.
Ceramide accumulation induces mitophagy and impairs β-oxidation in PINK1 deficiency.
Vos M, Dulovic-Mahlow M, Mandik F, Frese L, Kanana Y, Haissatou Diaw S, Depperschmidt J, Böhm C, Rohr J, Lohnau T, König IR, Klein C. Vos M, et al. Among authors: dulovic mahlow m. Proc Natl Acad Sci U S A. 2021 Oct 26;118(43):e2025347118. doi: 10.1073/pnas.2025347118. Proc Natl Acad Sci U S A. 2021. PMID: 34686591 Free PMC article.
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
Borsche M, Dulovic-Mahlow M, Baumann H, Tunc S, Lüth T, Schaake S, Özcakir S, Westenberger A, Münchau A, Knappe E, Trinh J, Brüggemann N, Lohmann K. Borsche M, et al. Among authors: dulovic mahlow m. Cerebellum. 2024 Apr;23(2):479-488. doi: 10.1007/s12311-023-01557-x. Epub 2023 Apr 22. Cerebellum. 2024. PMID: 37085601 Free PMC article. Review.
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