Chiara Cimmaruta - Search Results

Year	Number of Results
2016	2
2017	2
2018	2
2019	1
2020	3
2022	1
2023	1
2024	0

1

Reactive Species in Progeroid Syndromes and Aging-Related Processes.

Crochemore C, Cimmaruta C, Fernández-Molina C, Ricchetti M. Crochemore C, et al. Among authors: cimmaruta c. Antioxid Redox Signal. 2022 Jul;37(1-3):208-228. doi: 10.1089/ars.2020.8242. Epub 2022 Jan 4. Antioxid Redox Signal. 2022. PMID: 34428933 Review.

2

Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.

Iacobucci I, Hay Mele B, Cozzolino F, Monaco V, Cimmaruta C, Monti M, Andreotti G, Monticelli M. Iacobucci I, et al. Among authors: cimmaruta c. Int J Mol Sci. 2023 Feb 25;24(5):4548. doi: 10.3390/ijms24054548. Int J Mol Sci. 2023. PMID: 36901983 Free PMC article.

3

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G. Citro V, et al. Among authors: cimmaruta c. Int J Mol Sci. 2016 Dec 1;17(12):2010. doi: 10.3390/ijms17122010. Int J Mol Sci. 2016. PMID: 27916943 Free PMC article. Review.

4

Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.

Völkner C, Peter F, Liedtke M, Krohn S, Lindner I, Murua Escobar H, Cimmaruta C, Lukas J, Hermann A, Frech MJ. Völkner C, et al. Among authors: cimmaruta c. Stem Cell Res. 2019 Dec;41:101606. doi: 10.1016/j.scr.2019.101606. Epub 2019 Oct 15. Stem Cell Res. 2019. PMID: 31669975 Free article.

5

E-Learning for Rare Diseases: An Example Using Fabry Disease.

Cimmaruta C, Liguori L, Monticelli M, Andreotti G, Citro V. Cimmaruta C, et al. Int J Mol Sci. 2017 Sep 24;18(10):2049. doi: 10.3390/ijms18102049. Int J Mol Sci. 2017. PMID: 28946642 Free PMC article.

6

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.

Seemann S, Ernst M, Cimmaruta C, Struckmann S, Cozma C, Koczan D, Knospe AM, Haake LR, Citro V, Bräuer AU, Andreotti G, Cubellis MV, Fuellen G, Hermann A, Giese AK, Rolfs A, Lukas J. Seemann S, et al. Among authors: cimmaruta c. Biochem J. 2020 Jan 31;477(2):359-380. doi: 10.1042/BCJ20190513. Biochem J. 2020. PMID: 31899485 Free PMC article.

7

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

Lukas J, Cimmaruta C, Liguori L, Pantoom S, Iwanov K, Petters J, Hund C, Bunschkowski M, Hermann A, Cubellis MV, Rolfs A. Lukas J, et al. Among authors: cimmaruta c. Int J Mol Sci. 2020 Jan 31;21(3):956. doi: 10.3390/ijms21030956. Int J Mol Sci. 2020. PMID: 32023956 Free PMC article.

8

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.

Citro V, Cimmaruta C, Monticelli M, Riccio G, Hay Mele B, Cubellis MV, Andreotti G. Citro V, et al. Among authors: cimmaruta c. Int J Mol Sci. 2018 Jul 30;19(8):2218. doi: 10.3390/ijms19082218. Int J Mol Sci. 2018. PMID: 30061496 Free PMC article.

9

Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.

Petters J, Cimmaruta C, Iwanov K, Chang ML, Völkner C, Knuebel G, Murua Escobar H, Frech MJ, Hermann A, Rolfs A, Lukas J. Petters J, et al. Among authors: cimmaruta c. Stem Cell Res. 2020 Mar;43:101708. doi: 10.1016/j.scr.2020.101708. Epub 2020 Jan 27. Stem Cell Res. 2020. PMID: 32028086 Free article.

10

Cimmaruta C, Citro V, Andreotti G, Liguori L, Cubellis MV, Hay Mele B. Cimmaruta C, et al. BMC Bioinformatics. 2018 Nov 30;19(Suppl 15):433. doi: 10.1186/s12859-018-2416-7. BMC Bioinformatics. 2018. PMID: 30497360 Free PMC article.

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