Associated Papers
An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.
Gnutti B et al.
Brain Sciences, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG43
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Brankovic M et al.
Neurogenetics, 2024
Expanded-access use of elamipretide in a patient with membrane protein-associated neurodegeneration.
Patino J et al.
Clinical Case Reports, 2024
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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