Rodolfo Tonin

Florence, Italy

Last Updated: 09/26/2026

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Found 23 publications

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).

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).

Journal: Stem cell research

Published: May 18, 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*).

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*).

Journal: Stem cell research

Published: May 18, 2026

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Journal: Molecular genetics and metabolism

Published: February 20, 2026

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 gene.

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 gene.

Journal: Stem cell research

Published: April 18, 2025

GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.

GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.

Journal: Clinical parkinsonism & related disorders

Published: September 13, 2024

Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.

Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.

Journal: Stem cell research

Published: March 12, 2024

The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine.

The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine.

Journal: JIMD reports

Published: February 29, 2024

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.

Journal: Molecules (Basel, Switzerland)

Published: December 22, 2023

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 vector.

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 vector.

Journal: Stem cell research

Published: August 06, 2023

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.

Journal: Biomedicines

Published: July 07, 2022

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Journal: Human mutation

Published: March 31, 2021

Morquio B disease: From pathophysiology towards diagnosis.

Morquio B disease: From pathophysiology towards diagnosis.

Journal: Molecular genetics and metabolism

Published: November 12, 2020

Showing 1-12 of 23

Last Updated: 09/26/2026