Zara F - Search Results

1

Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.

Terlizzi V, Pesce E, Capurro V, Tomati V, Lena M, Pastorino C, Bocciardi R, Zara F, Centrone C, Taccetti G, Castellani C, Pedemonte N. Terlizzi V, et al. Among authors: zara f. Int J Mol Sci. 2023 Mar 31;24(7):6576. doi: 10.3390/ijms24076576. Int J Mol Sci. 2023. PMID: 37047546 Free PMC article.

2

Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background.

Tomati V, Costa S, Capurro V, Pesce E, Pastorino C, Lena M, Sondo E, Di Duca M, Cresta F, Cristadoro S, Zara F, Galietta LJV, Bocciardi R, Castellani C, Lucanto MC, Pedemonte N. Tomati V, et al. Among authors: zara f. J Cyst Fibros. 2023 May;22(3):525-537. doi: 10.1016/j.jcf.2022.12.005. Epub 2022 Dec 19. J Cyst Fibros. 2023. PMID: 36543707

3

Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.

Dębczyński M, Mojsak D, Tamburro S, Baldassari S, Musante I, Casciaro R, Ciciriello F, Zara F, Scudieri P, Gorrieri G. Dębczyński M, et al. Among authors: zara f. Stem Cell Res. 2023 Oct;72:103232. doi: 10.1016/j.scr.2023.103232. Epub 2023 Oct 18. Stem Cell Res. 2023. PMID: 37865062 Free article.

4

Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.

Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A. Rosti G, et al. Among authors: zara f. Mol Syndromol. 2023 Oct;14(5):433-438. doi: 10.1159/000529408. Epub 2023 May 9. Mol Syndromol. 2023. PMID: 37915395 Free PMC article.

5

ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases.

Dębczyński M, Gorrieri G, Mojsak D, Guida F, Zara F, Scudieri P. Dębczyński M, et al. Among authors: zara f. Biomolecules. 2023 Sep 27;13(10):1455. doi: 10.3390/biom13101455. Biomolecules. 2023. PMID: 37892136 Free PMC article. Review.

6

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Geroldi A, Tozza S, Fiorillo C, Nolano M, Fossa P, Vitale F, Domi R, Gaudio A, Mammi A, Patrone S, Barbera A, Origone P, Ponti C, Sanguineri F, Zara F, Cataldi M, Salpietro V, Venturi CB, Massucco S, Schenone A, Manganelli F, Mandich P, Bellone E, Gotta F. Geroldi A, et al. Among authors: zara f. J Peripher Nerv Syst. 2023 Dec;28(4):620-628. doi: 10.1111/jns.12602. Epub 2023 Nov 13. J Peripher Nerv Syst. 2023. PMID: 37897416

7

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.

Boeri S, Scala M, Madia F, Perucco F, Vozzi D, Capra V, Zara F, Nobili L, Mancardi MM. Boeri S, et al. Among authors: zara f. Epileptic Disord. 2023 Dec;25(6):874-879. doi: 10.1002/epd2.20141. Epub 2023 Aug 8. Epileptic Disord. 2023. PMID: 37518898

8

Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients.

Panicucci C, Casalini S, Damasio BM, Brolatti N, Pedemonte M, Biolcati Rinaldi A, Morando S, Doglio L, Raffaghello L, Fiorillo C, Zara F, Tasca G, Bruno C. Panicucci C, et al. Among authors: zara f. Brain Dev. 2023 May;45(5):306-313. doi: 10.1016/j.braindev.2023.01.010. Epub 2023 Feb 14. Brain Dev. 2023. PMID: 36797079

9

Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.

Conteduca G, Baldo C, Arado A, da Silva JSM, Testa B, Baldassari S, Zara F, Filaci G, Coviello D, Malacarne M. Conteduca G, et al. Among authors: zara f. Stem Cell Res. 2024 Apr;76:103324. doi: 10.1016/j.scr.2024.103324. Epub 2024 Jan 29. Stem Cell Res. 2024. PMID: 38301425 Free article.

10

Validation of analytical methods for the production of expanded γδ T lymphocytes useful for therapeutic purposes.

Morandi F, Della Lastra M, Zara F, Airoldi I. Morandi F, et al. Among authors: zara f. Curr Res Transl Med. 2024 Mar 5;72(4):103445. doi: 10.1016/j.retram.2024.103445. Online ahead of print. Curr Res Transl Med. 2024. PMID: 38493557

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