Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.
Zhang B et al.
Bmc Medical Genomics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Clinical genetics of Charcot-Marie-Tooth disease.
Higuchi Y et al.
Journal of Human Genetics, 2023
A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.
Jamiri Z et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
Wu C et al.
Annals of Clinical and Translational Neurology, 2022
Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene: A Call for Family Screening and Pharmacovigilance.
Nortier JL et al.
Kidney International Reports, 2021
Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
Hong D et al.
Annals of Clinical and Translational Neurology, 2019
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Lupo V et al.
Journal of Medical Genetics, 2018
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M et al.
American Journal of Human Genetics, 2016
Natriuretic peptide pharmacogenetics: membrane metallo-endopeptidase (MME): common gene sequence variation, functional characterization and degradation.
Pereira NL et al.
Journal of Molecular and Cellular Cardiology, 2010
Mechanisms of disease: Alloimmunization in renal diseases.
Ronco P et al.
Nature Clinical Practice. Nephrology, 2006
Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies.
Debiec H et al.
Lancet (london, England), 0
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