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Sestrin2 drives ER-phagy in response to protein misfolding.
De Leonibus C, Maddaluno M, Ferriero R, Besio R, Cinque L, Lim PJ, Palma A, De Cegli R, Gagliotta S, Montefusco S, Iavazzo M, Rohrbach M, Giunta C, Polishchuk E, Medina DL, Di Bernardo D, Forlino A, Piccolo P, Settembre C. De Leonibus C, et al. Among authors: rohrbach m. Dev Cell. 2024 Aug 19;59(16):2035-2052.e10. doi: 10.1016/j.devcel.2024.07.004. Epub 2024 Aug 1. Dev Cell. 2024. PMID: 39094564 Free PMC article.
Physiological cell bioprinting density in human bone-derived cell-laden scaffolds enhances matrix mineralization rate and stiffness under dynamic loading.
de Leeuw AM, Graf R, Lim PJ, Zhang J, Schädli GN, Peterhans S, Rohrbach M, Giunta C, Rüger M, Rubert M, Müller R. de Leeuw AM, et al. Among authors: rohrbach m. Front Bioeng Biotechnol. 2024 Feb 14;12:1310289. doi: 10.3389/fbioe.2024.1310289. eCollection 2024. Front Bioeng Biotechnol. 2024. PMID: 38419730 Free PMC article.
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M. Park J, et al. Among authors: rohrbach m. J Neurol. 2024 Oct;271(10):6888-6902. doi: 10.1007/s00415-024-12664-y. Epub 2024 Sep 3. J Neurol. 2024. PMID: 39225743 Free PMC article.
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.
Rohrbach M, Giunta C. Rohrbach M, et al. 2000 Feb 2 [updated 2024 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Feb 2 [updated 2024 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301635 Free Books & Documents. Review.
218 results