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Human Mutation|January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profilingAnna Caciotti, Maria Alice Donati, Elena Procopio, et al.
Human Mutation|August 20, 2014
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseAmelia Morrone, Anna Caciotti, Robert Atwood, 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.
Molecular Genetics and Metabolism|February 9, 2021
Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
BBA Clinical|April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutationRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
European Journal of Neurology|May 20, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative ConditionsFederica Feo, Luciana Tramacere, Silvia Ramat, et al.
Scientific Reports|November 29, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside contentRodolfo Tonin, Anna Caciotti, Elena Procopio, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
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