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Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
Zanuttigh E, Derderian K, Güra MA, Geerlof A, Di Meo I, Cavestro C, Hempfling S, Ortiz-Collazos S, Mauthe M, Kmieć T, Cammarota E, Panzeri MC, Klopstock T, Sattler M, Winkelmann J, Messias AC, Iuso A. Zanuttigh E, et al. Among authors: kmiec t. Pharmaceutics. 2023 Jan 12;15(1):267. doi: 10.3390/pharmaceutics15010267. Pharmaceutics. 2023. PMID: 36678896 Free PMC article.
Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Purzycka-Olewiecka JK, Hetmańczyk-Sawicka K, Kmieć T, Szczęśniak D, Trubicka J, Krawczyński M, Pronicki M, Ługowska A. Purzycka-Olewiecka JK, et al. Among authors: kmiec t. Metab Brain Dis. 2023 Feb;38(2):709-715. doi: 10.1007/s11011-022-01148-5. Epub 2022 Dec 28. Metab Brain Dis. 2023. PMID: 36576693 Free PMC article.
Development and validation of a prediction model for actionable aspects of frailty in the text of clinicians' encounter notes.
Martin JA, Crane-Droesch A, Lapite FC, Puhl JC, Kmiec TE, Silvestri JA, Ungar LH, Kinosian BP, Himes BE, Hubbard RA, Diamond JM, Ahya V, Sims MW, Halpern SD, Weissman GE. Martin JA, et al. Among authors: kmiec te. J Am Med Inform Assoc. 2021 Dec 28;29(1):109-119. doi: 10.1093/jamia/ocab248. J Am Med Inform Assoc. 2021. PMID: 34791302 Free PMC article.
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Ługowska A, Baydakova G, Ilyushkina A, Zakharova E, Mierzewska H, Szymańska K, Wierzba J, Kubalska J, Graban A, Kmieć T, Perkowska-Sumiła B, Tylki-Szymańska A, Bednarska-Makaruk M. Ługowska A, et al. Among authors: kmiec t. Diagnostics (Basel). 2021 Feb 16;11(2):320. doi: 10.3390/diagnostics11020320. Diagnostics (Basel). 2021. PMID: 33669444 Free PMC article.
Mitochondrial Membrane Protein-Associated Neurodegeneration.
Gregory A, Klopstock T, Kmiec T, Hogarth P, Hayflick SJ. Gregory A, et al. Among authors: kmiec t. 2014 Feb 27 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Feb 27 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24575447 Free Books & Documents. Review.
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Klopstock T, Videnovic A, Bischoff AT, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar ML, Fraser JL, Gonzalez V, Hermanowicz N, Jech R, Jinnah HA, Kmiec T, Lang A, Martí MJ, Mercimek-Andrews S, Monduy M, Nimmo GAM, Perez-Dueñas B, Pfeiffer HCV, Planellas L, Roze E, Thakur N, Tochen L, Vanegas-Arroyave N, Zorzi G, Burns C, Greblikas F. Klopstock T, et al. Among authors: kmiec t. Mov Disord. 2021 Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16. Mov Disord. 2021. PMID: 33200489 Free PMC article. Clinical Trial.
76 results