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A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Among authors: gagliardi d. Nat Genet. 2024 Nov;56(11):2322-2332. doi: 10.1038/s41588-024-01917-1. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313615
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SL, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Among authors: gagliardi d. medRxiv [Preprint]. 2023 Dec 12:2023.05.03.23289461. doi: 10.1101/2023.05.03.23289461. medRxiv. 2023. Update in: Nat Genet. 2024 Nov;56(11):2322-2332. doi: 10.1038/s41588-024-01917-1 PMID: 37205357 Free PMC article. Updated. Preprint.
Increased frequency of repeat expansion mutations across different populations.
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A, Gies SJ, Deforie VG, Dalmia A, Hensman Moss DJ, Vandrovcova J, Rocca C, Moutsianas L, Marini-Bettolo C, Walker H, Turner C, Shoai M, Long JD; EUROSCA network; Fratta P, Langbehn DR, Tabrizi SJ, Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: gagliardi d. medRxiv [Preprint]. 2024 Jul 8:2023.07.03.23292162. doi: 10.1101/2023.07.03.23292162. medRxiv. 2024. Update in: Nat Med. 2024 Nov;30(11):3357-3368. doi: 10.1038/s41591-024-03190-5 PMID: 37461547 Free PMC article. Updated. Preprint.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Chen Z, Gustavsson EK, Macpherson H, Anderson C, Clarkson C, Rocca C, Self E, Alvarez Jerez P, Scardamaglia A, Pellerin D, Montgomery K, Lee J, Gagliardi D, Luo H; Genomics England Research Consortium; Hardy J, Polke J, Singleton AB, Blauwendraat C, Mathews KD, Tucci A, Fu YH, Houlden H, Ryten M, Ptáček LJ. Chen Z, et al. Among authors: gagliardi d. Mov Disord. 2024 Mar;39(3):486-497. doi: 10.1002/mds.29704. Epub 2024 Jan 10. Mov Disord. 2024. PMID: 38197134
Increased frequency of repeat expansion mutations across different populations.
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A, Gies SJ, Galassi Deforie V, Dalmia A, Hensman Moss DJ, Vandrovcova J, Rocca C, Moutsianas L, Marini-Bettolo C, Walker H, Turner C, Shoai M, Long JD, Fratta P, Langbehn DR, Tabrizi SJ, Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: gagliardi d. Nat Med. 2024 Nov;30(11):3357-3368. doi: 10.1038/s41591-024-03190-5. Epub 2024 Oct 1. Nat Med. 2024. PMID: 39354197 Free PMC article.
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.
Pera MC, Coratti G, Pane M, Masson R, Sansone VA, D'Amico A, Catteruccia M, Agosto C, Varone A, Bruno C, Messina S, Ricci F, Bruno I, Procopio E, Pini A, Siliquini S, Zanin R, Albamonte E, Berardinelli A, Mastella C, Baranello G, Previtali SC, Trabacca A, Bravetti C, Gagliardi D, Filosto M, de Sanctis R, Finkel R, Mercuri E; Italian SMA type I Study Group. Pera MC, et al. Among authors: gagliardi d. EClinicalMedicine. 2024 Nov 30;78:102967. doi: 10.1016/j.eclinm.2024.102967. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39687428 Free PMC article.
Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS.
Gagliardi D, Rizzuti M, Masrori P, Saccomanno D, Del Bo R, Sali L, Meneri M, Scarcella S, Milone I, Hersmus N, Ratti A, Ticozzi N, Silani V, Poesen K, Van Damme P, Comi GP, Corti S, Verde F. Gagliardi D, et al. J Neurol. 2024 Dec;271(12):7557-7571. doi: 10.1007/s00415-024-12699-1. Epub 2024 Sep 28. J Neurol. 2024. PMID: 39340541 Free PMC article.
Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
Abati E, Gagliardi D, Manini A, Del Bo R, Ronchi D, Meneri M, Beretta F, Sarno A, Rizzo F, Monfrini E, Di Fonzo A, Pellecchia MT, Brusati A, Silani V, Comi GP, Ratti A, Verde F, Ticozzi N, Corti S. Abati E, et al. Among authors: gagliardi d. Brain Commun. 2024 Sep 23;6(5):fcae312. doi: 10.1093/braincomms/fcae312. eCollection 2024. Brain Commun. 2024. PMID: 39315308 Free PMC article.
175 results