Biblio

Author Title [ Type(Desc)] Year
Filters: Author is Valente, Enza Maria  [Clear All Filters]
Journal Article
Ali E, Ferraro RMonica, Guglielmi A, Lanzi G, Masneri S, Piovani G, Mazzoldi ELaura, Pollara L, Valente EMaria, Accorsi P, et al. Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene. Stem Cell Res. 2021;54:102430.
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015;4.
Ali E, Ferraro RMonica, Lanzi G, Masneri S, Piovani G, Mazzoldi ELaura, Serpieri V, Valente EMaria, Giordano L, Giliani SClara. Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene. Stem Cell Res. 2020;49:102007.
Mura M, Lee Y-K, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EMaria, Schwartz PJ, Tse H-F, et al. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation. Stem Cell Res. 2019;37:101431.
Mura M, Bastaroli F, Corli M, Ginevrino M, Calabrò F, Boni M, Crotti L, Valente EMaria, Schwartz PJ, Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1. Stem Cell Res. 2019;42:101658.
Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EMaria, Schwartz PJ, Brink PA, et al. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene. Stem Cell Res. 2019;36:101416.
Mura M, Lee Y-K, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EMaria, Schwartz PJ, Tse H-F, et al. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation. Stem Cell Res. 2019;37:101437.
Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EMaria, Schwartz PJ, Brink PA, et al. Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population. Stem Cell Res. 2019;39:101510.
De Mori R, Tardivo S, Pollara L, Giliani SClara, Ali E, Giordano L, Leuzzi V, Fischetto R, Gener B, Diprima S, et al. Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro. Cell Tissue Res. 2024.
Brunelli F, Valente EMaria, Arena G. Mechanisms of neurodegeneration in Parkinson's disease: keep neurons in the PINK1. Mech Ageing Dev. 2020:111277.
Altieri F, D'Anzi A, Martello F, Tardivo S, Spasari I, Ferrari D, Bernardini L, Lamorte G, Mazzoccoli G, Valente EMaria, et al. Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome. Stem Cell Res. 2019;38:101480.
Vaghi P, Oldani A, Fulghieri P, Pollara L, Valente EMaria, Sottile V. Simultaneous Labeling of Adipogenic and Osteogenic Differentiating Stem Cells for Live Confocal Analysis. Methods Mol Biol. 2023;2566:53-62.