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TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E. Tonduti D, et al. Among authors: barresi s. Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28. Eur J Paediatr Neurol. 2016. PMID: 26643067
Vaginal delivery in SARS-CoV-2-infected pregnant women in Northern Italy: a retrospective analysis.
Ferrazzi E, Frigerio L, Savasi V, Vergani P, Prefumo F, Barresi S, Bianchi S, Ciriello E, Facchinetti F, Gervasi MT, Iurlaro E, Kustermann A, Mangili G, Mosca F, Patanè L, Spazzini D, Spinillo A, Trojano G, Vignali M, Villa A, Zuccotti GV, Parazzini F, Cetin I. Ferrazzi E, et al. Among authors: barresi s. BJOG. 2020 Aug;127(9):1116-1121. doi: 10.1111/1471-0528.16278. Epub 2020 May 28. BJOG. 2020. PMID: 32339382 Free PMC article.
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. Sferra A, et al. Among authors: barresi s. Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666369 Free PMC article.
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L. Zanni G, et al. Among authors: barresi s. Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14. Hum Mutat. 2015. PMID: 26290468
Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.
Compagnucci C, Barresi S, Petrini S, Billuart P, Piccini G, Chiurazzi P, Alfieri P, Bertini E, Zanni G. Compagnucci C, et al. Among authors: barresi s. Stem Cells Transl Med. 2016 Jul;5(7):860-9. doi: 10.5966/sctm.2015-0303. Epub 2016 May 9. Stem Cells Transl Med. 2016. PMID: 27160703 Free PMC article.
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: barresi s. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
89 results