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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
POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS.
Ibañez K, Jadhav B, Facchini S, Garg P, Zanovello M, Martin-Trujillo A, Gies SJ, Deforie VG, Gagliardi D, Hensman D, Moutsianas L, Shoai M; Genomics England Research Consortium; EUROSCA network; 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]. 2023 Jul 6:2023.07.03.23292162. doi: 10.1101/2023.07.03.23292162. medRxiv. 2023. PMID: 37461547 Free PMC article. Preprint.
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. PMID: 37205357 Free PMC article. Preprint.
Personal protective equipment for preventing asbestos exposure in workers.
Belackova L, Verbeek JH, Hoving JL, van der Molen HF, Gagliardi D, Curti S, Hulshof CT, Scheepers PT. Belackova L, et al. Among authors: gagliardi d. Cochrane Database Syst Rev. 2024 May 2;5(5):CD015158. doi: 10.1002/14651858.CD015158.pub2. Cochrane Database Syst Rev. 2024. PMID: 38695617 Review.
Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.
Gagliardi D, Canzio E, Orsini P, Conti P, Sinisi V, Maggiore C, Santarsia MC, Lagioia G, Lupis G, Roppa I, Scianatico G, Mancini D, Corti S, Comi GP, Gentile M, Gagliardi D. Gagliardi D, et al. Ann Clin Transl Neurol. 2024 May;11(5):1090-1096. doi: 10.1002/acn3.52018. Epub 2024 Apr 10. Ann Clin Transl Neurol. 2024. PMID: 38600653 Free PMC article.
Genomic and transcriptomic advances in amyotrophic lateral sclerosis.
Rizzuti M, Sali L, Melzi V, Scarcella S, Costamagna G, Ottoboni L, Quetti L, Brambilla L, Papadimitriou D, Verde F, Ratti A, Ticozzi N, Comi GP, Corti S, Gagliardi D. Rizzuti M, et al. Among authors: gagliardi d. Ageing Res Rev. 2023 Dec;92:102126. doi: 10.1016/j.arr.2023.102126. Epub 2023 Nov 14. Ageing Res Rev. 2023. PMID: 37972860 Free article. Review.
168 results