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Molecules (Basel, Switzerland)|January 23, 2024
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage ReductionCostanza Ceni, Francesca Clemente, Francesca Mangiavacchi, et al.
Stem Cell Research|July 16, 2026
Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*)Federica Feo, Silvia Falliano, Anna Caciotti, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Galactosialidosis: review and analysis of CTSA gene mutationsAnna Caciotti, Serena Catarzi, Rodolfo Tonin, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Human Mutation|February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosisAnna Caciotti, Maria Alice Donati, Avihu Boneh, et al.
European Journal of Human Genetics : EJHG|June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry diseaseCamilla Filoni, Anna Caciotti, Laura Carraresi, et al.
International Journal of Molecular Sciences|April 23, 2022
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the LiteratureFrancesca Nardecchia, Anna Caciotti, Teresa Giovanniello, et al.
European Journal of Medicinal Chemistry|October 18, 2016
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type BSophie Front, Anna Biela-Banaś, Patricie Burda, et al.
Molecular Genetics and Metabolism|November 13, 2019
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overviewAnna Caciotti, Federico Melani, Rodolfo Tonin, et al.
BMC Medical Genetics|October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a diseaseAnna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
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