Associated Papers
An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.
Gnutti B et al.
Brain Sciences, 2025
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
Zanuttigh E et al.
Pharmaceutics, 2023
36678896 (PubMed )
Supplement: pharmaceutics-15-00267-s001.zip › pharmaceutics-2089522-supplementary.pdf
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL et al.
Nature Communications, 2022
36344503 (PubMed )
Supplement: 41467_2022_32908_MOESM1_ESM.pdf
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H et al.
Ebiomedicine, 2022
35180557 (PubMed )
Supplement: mmc3.xlsx › List1
Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration.
Yang Y et al.
Frontiers in Genetics, 2022
A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.
Fraser S et al.
Molecular Genetics & Genomic Medicine, 2021
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A et al.
Molecular Genetics & Genomic Medicine, 2019
A de novo C19orf12 heterozygous mutation in a patient with MPAN.
Monfrini E et al.
Parkinsonism & Related Disorders, 2018
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