Zara F - Search Results

1

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.

2

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: zara f. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.

3

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

4

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.

5

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

6

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

7

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.

8

Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.

Conteduca G, Baldo C, Arado A, Traverso M, Testa B, Malacarne M, Coviello D, Zara F, Baldassari S. Conteduca G, et al. Among authors: zara f. Stem Cell Res. 2023 Feb;66:103007. doi: 10.1016/j.scr.2022.103007. Epub 2022 Dec 21. Stem Cell Res. 2023. PMID: 36580887 Free article.

9

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.

10

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.

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