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Cell and Tissue Research|March 19, 2024
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitroRoberta De Mori, Silvia Tardivo, Lidia Pollara, et al.
Neurobiology of Disease|January 22, 2024
Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's diseaseAlberto Imarisio, Isar Yahyavi, Micol Avenali, et al.
Npj Aging|April 11, 2025
1H-NMR-based metabolomics identifies disrupted betaine metabolism as distinct serum signature of pre-frailtyCarmen Marino, Alberto Imarisio, Clara Gasparri, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 1, 2025
Efficacy and safety of dapagliflozin in inactive lupus nephritis: a randomized crossover trialGisele Vajgel, Braziliano Miguel da Silva Júnior, Carlos R Silva Miranda Filho, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patientsFrancesca Simonelli, Carmela Ziviello, Francesco Testa, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 16, 2017
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defectMattia Vicario, Tito Calì, Domenico Cieri, et al.
Plos Genetics|February 23, 2018
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in miceAndrea Freschi, Stella K Hur, Federica Maria Valente, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 5, 2021
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesionsRiccardo Carbone, Laura Rovedatti, Marco Vincenzo Lenti, et al.
Neurogenetics|April 13, 2011
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletionGinevra Zanni, Sabina Barresi, Lorena Travaglini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 13, 2009
Mutation screening of the DYT6/THAP1 gene in ItalyMonica Bonetti, Chiara Barzaghi, Francesco Brancati, et al.
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