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JIMD Reports|July 8, 2024
The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in UkraineNataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, 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.
Stem Cell Research|February 7, 2024
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vectorRodolfo Tonin, Federica Feo, Silvia Falliano, et al.
Stem Cell Research|May 4, 2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vectorRodolfo Tonin, Federica Feo, Silvia Falliano, 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.
Molecular Genetics and Metabolism|February 9, 2021
Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
Thescientificworldjournal|December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studiesSerena Catarzi, Anna Caciotti, Janita Thusberg, et al.
ACS Applied Materials & Interfaces|May 3, 2021
Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering PropertiesSilvia Bittolo Bon, Irene Chiesa, Micaela Degli Esposti, et al.
Clinical Parkinsonism & Related Disorders|July 17, 2025
GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany regionRodolfo Tonin, Silvia Ramat, Marina Rinaldi, et al.
ACS Omega|December 12, 2022
Biocompatible and Printable Ionotronic Sensing Materials Based on Silk Fibroin and Soluble Plant-Derived PolyphenolsIrene Chiesa, Carmelo De Maria, Rodolfo Tonin, et al.
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