Associated Papers
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
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
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
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
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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