Associated Papers
Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.
Ziliotto N et al.
Ebiomedicine, 2025
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
Ravasi G et al.
Genes, 2021
Ceruloplasmin variants might have different effects in different iron overload disorders.
Pelucchi S et al.
Journal of Hepatology, 2021
Reply to: "Ceruloplasmin variants might have different effects in different iron overload disorders".
Corradini E et al.
Journal of Hepatology, 2021
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Vila Cuenca M et al.
International Journal of Molecular Sciences, 2020
32235485 (PubMed )
Supplement: ijms-21-02374-s001.pdf
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
Lanktree MB et al.
European Journal of Haematology, 2017
Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson's disease.
Zhao N et al.
Neuroscience Bulletin, 2015
Brain iron metabolism and neurodegenerative disorders.
Sipe JC et al.
Developmental Neuroscience, 2002
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