Associated Papers
An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.
Gnutti B et al.
Brain Sciences, 2025
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
Kasapkara ÇS et al.
Acta Neurologica Belgica, 2019
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A et al.
Molecular Genetics & Genomic Medicine, 2019
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