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Oxidative Medicine and Cellular Longevity|July 3, 2014
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndromeCinzia Signorini, Silvia Leoncini, Claudio De Felice, et al.
Plos One|March 8, 2013
Revealing the complexity of a monogenic disease: rett syndrome exome sequencingElisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, et al.
Frontiers in Sports and Active Living|January 23, 2024
Advancing athletic assessment by integrating conventional methods with cutting-edge biomedical technologies for comprehensive performance, wellness, and longevity insightsMarios Spanakis, Persefoni Fragkiadaki, Elisavet Renieri, et al.
Brain & Development|April 14, 2009
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteriaR Artuso, M A Mencarelli, R Polli, et al.
American Journal of Medical Genetics|November 20, 1995
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndromeA Renieri, L Galli, A Grillo, et al.
Journal of Cellular and Molecular Medicine|April 20, 2023
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot studyCamilla Cittadini, Elena Angela Pia Germinario, Zaira Maroccia, et al.
European Journal of Human Genetics : EJHG|April 26, 2020
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspotSusanna Croci, Miriam Lucia Carriero, Katia Capitani, et al.
Human Molecular Genetics|May 27, 2005
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeFrancesca Mari, Sara Azimonti, Ilaria Bertani, et al.
Orphanet Journal of Rare Diseases|October 26, 2016
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanksChiara Baldo, Lorena Casareto, Alessandra Renieri, et al.
Genes|November 27, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous DisordersMario Urtis, Chiara Paganini, Viviana Vilardo, et al.
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