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Page 1
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM, Venturi V, Ferrer-Cortès X, Romero-Cortadellas L, Hernández G, Leoz P, Ricard Andrés MP, Morado M, Fernández Valle MDC, Beneitez Pastor D, Ortuño Cabrero A, Moreno Gamiz M, Senent Peris L, Perez-Valencia AI, Pérez-Montero S, Tornador C, Sánchez M. Musri MM, et al. Among authors: venturi v. Int J Mol Sci. 2023 Jun 9;24(12):9935. doi: 10.3390/ijms24129935. Int J Mol Sci. 2023. PMID: 37373084 Free PMC article.
Huntington's disease brain-derived small RNAs recapitulate associated neuropathology in mice.
Creus-Muncunill J, Guisado-Corcoll A, Venturi V, Pantano L, Escaramís G, García de Herreros M, Solaguren-Beascoa M, Gámez-Valero A, Navarrete C, Masana M, Llorens F, Diaz-Lucena D, Pérez-Navarro E, Martí E. Creus-Muncunill J, et al. Among authors: venturi v. Acta Neuropathol. 2021 Apr;141(4):565-584. doi: 10.1007/s00401-021-02272-9. Epub 2021 Feb 6. Acta Neuropathol. 2021. PMID: 33547932 Free article.
Haemochromatosis patients' research priorities: Towards an improved quality of life.
Romero-Cortadellas L, Venturi V, Martín-Sánchez JC, Toska K, Prince D, Butzeck B, Porto G, Milman NT, Committee HS, Sánchez M. Romero-Cortadellas L, et al. Among authors: venturi v. Health Expect. 2023 Dec;26(6):2293-2301. doi: 10.1111/hex.13830. Epub 2023 Jul 28. Health Expect. 2023. PMID: 37503783 Free PMC article.
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.
Hernández G, Romero-Cortadellas L, Ferrer-Cortès X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, González-Fernández FA, Morado M, Kalfa TA, Quintana-Bustamante O, Pérez-Montero S, Tornador C, Segovia JC, Sánchez M. Hernández G, et al. Among authors: venturi v. Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277. Haematologica. 2023. PMID: 36200420 Free PMC article. No abstract available.
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M. Hernández G, et al. Among authors: venturi v. Genes (Basel). 2021 Dec 13;12(12):1980. doi: 10.3390/genes12121980. Genes (Basel). 2021. PMID: 34946929 Free PMC article.
Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels.
Rué L, Bañez-Coronel M, Creus-Muncunill J, Giralt A, Alcalá-Vida R, Mentxaka G, Kagerbauer B, Zomeño-Abellán MT, Aranda Z, Venturi V, Pérez-Navarro E, Estivill X, Martí E. Rué L, et al. Among authors: venturi v. J Clin Invest. 2016 Nov 1;126(11):4319-4330. doi: 10.1172/JCI83185. Epub 2016 Oct 10. J Clin Invest. 2016. PMID: 27721240 Free PMC article.