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Page 1
VPS13D promotes peroxisome biogenesis.
Baldwin HA, Wang C, Kanfer G, Shah HV, Velayos-Baeza A, Dulovic-Mahlow M, Brüggemann N, Anding A, Baehrecke EH, Maric D, Prinz WA, Youle RJ. Baldwin HA, et al. Among authors: bruggemann n. J Cell Biol. 2021 May 3;220(5):e202001188. doi: 10.1083/jcb.202001188. J Cell Biol. 2021. PMID: 33891012 Free PMC article.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Seong E, et al. Among authors: bruggemann n. Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30. Ann Neurol. 2018. PMID: 29604224 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: bruggemann n. J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20. J Neurol. 2020. PMID: 31745726
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.
Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, Rosenstiel P, Lohmann K, Brockmann K, Valente EM, Youle RJ, Grünewald A, Klein C. Borsche M, et al. Among authors: bruggemann n. Brain. 2020 Oct 1;143(10):3041-3051. doi: 10.1093/brain/awaa246. Brain. 2020. PMID: 33029617 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: bruggemann n. 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.
Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease.
Diaw SH, Borsche M, Streubel-Gallasch L, Dulovic-Mahlow M, Hermes J, Lenz I, Seibler P, Klein C, Brüggemann N, Vos M, Lohmann K. Diaw SH, et al. Among authors: bruggemann n. NPJ Parkinsons Dis. 2023 Oct 30;9(1):148. doi: 10.1038/s41531-023-00584-z. NPJ Parkinsons Dis. 2023. PMID: 37903765 Free PMC article.
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Laabs BH, et al. Among authors: bruggemann n. Nat Commun. 2021 May 28;12(1):3216. doi: 10.1038/s41467-021-23491-4. Nat Commun. 2021. PMID: 34050153 Free PMC article.
323 results