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Biochimica Et Biophysica Acta|February 24, 2006
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanismsSusanna Lualdi, Maja Di Rocco, Fabio Corsolini, et al.
JIMD Reports|March 2, 2017
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.
Molecular Genetics and Metabolism|September 8, 2012
Minimal disease activity in Gaucher disease: criteria for definitionMaja Di Rocco, Generoso Andria, Bruno Bembi, et al.
European Journal of Medical Genetics|August 21, 2020
Targeted re-sequencing in pediatric and perinatal strokeAlice Grossi, Mariasavina Severino, Marta Rusmini, et al.
The Journal of Allergy and Clinical Immunology. in Practice|July 24, 2020
Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher DiseaseMaurizio Miano, Annalisa Madeo, Enrico Cappelli, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiencyMaja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, et al.
AJR. American Journal of Roentgenology|April 9, 2016
Standardization of MRI and Scintigraphic Scores for Assessing the Severity of Bone Marrow Involvement in Adult Patients With Type 1 Gaucher DiseaseGiuliano Mariani, Marzio Perri, Fabrizio Minichilli, et al.
Molecular Cytogenetics|December 6, 2014
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disordersStefania Gimelli, Valeria Capra, Maja Di Rocco, et al.
JBMR Plus|March 10, 2025
Hearing loss predictive model in fibrodysplasia ossificans progressiva from a national referral center: developing an hearing loss predictive modelTommaso Cacco, Riccardo Papa, Luca Carmisciano, et al.
Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.
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