Associated Papers
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
A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.
Tsamis KI et al.
Laboratory Medicine, 2022
Endoplasmic Reticulum Associated Degradation of Spinocerebellar Ataxia-Related CD10 Cysteine Mutant.
Kanuka M et al.
International Journal of Molecular Sciences, 2020
Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
Hong D et al.
Annals of Clinical and Translational Neurology, 2019
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).
Depondt C et al.
Neurology. Genetics, 2016
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