Miriam Rigoldi

Bergamo, Italy

Last Updated: 09/26/2026

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Found 34 publications

Natural History and Clinical Associations with Long-Term Outcomes in Primary C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative GN.

Natural History and Clinical Associations with Long-Term Outcomes in Primary C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative GN.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: July 29, 2025

Hierarchical clustering uncovered disease patterns and further untangled complexities in immune complex-mediated idiopathic MPGN and C3 glomerulopathy.

Hierarchical clustering uncovered disease patterns and further untangled complexities in immune complex-mediated idiopathic MPGN and C3 glomerulopathy.

Journal: Kidney international

Published: February 11, 2025

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

Journal: Clinical dysmorphology

Published: October 04, 2023

Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report.

Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report.

Journal: Nephron

Published: May 23, 2023

A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by Neanderthals.

A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by Neanderthals.

Journal: iScience

Published: May 16, 2023

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Journal: Current issues in molecular biology

Published: March 02, 2023

CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.

CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.

Journal: Frontiers in immunology

Published: August 04, 2022

Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.

Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.

Journal: Nephron

Published: June 24, 2022

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.

Journal: Clinical epigenetics

Published: February 22, 2021

Morquio B disease: From pathophysiology towards diagnosis.

Morquio B disease: From pathophysiology towards diagnosis.

Journal: Molecular genetics and metabolism

Published: November 12, 2020

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

Journal: Journal of inherited metabolic disease

Published: October 25, 2019

Novel mutations in two unrelated Italian patients with SSADH deficiency.

Novel mutations in two unrelated Italian patients with SSADH deficiency.

Journal: Metabolic brain disease

Published: March 29, 2019

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Last Updated: 09/26/2026