Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Journal of Neurology|November 2, 2018
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing EnhancerRodolfo Tonin, Serena Catarzi, Anna Caciotti, et al.
Molecular Genetics and Metabolism Reports|December 14, 2020
High frequency of biotinidase deficiency in Italian population identified by newborn screeningSilvia Funghini, Rodolfo Tonin, Sabrina Malvagia, et al.
Biomedicines|August 26, 2022
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type CClaudia Capitini, Federica Feo, Anna Caciotti, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 22, 2015
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first childRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
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|June 10, 2025
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS geneFederica 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.
ACS Applied Materials & Interfaces|April 19, 2022
3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for In Vivo Monitoring on Soft TissuesIrene Chiesa, Carmelo De Maria, Maria Rachele Ceccarini, et al.
Stem Cell Research|July 16, 2026
Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A)Marina Rinaldi, Federica Feo, Silvia Falliano, 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.
Pageof 3