Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
Iankova V et al.
Brain : a Journal of Neurology, 2024
37831662 (PubMed )
Supplement: awad357_supplementary_data.pdf
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).
Hinarejos I et al.
Antioxidants (basel, Switzerland), 2020
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A et al.
Molecular Genetics & Genomic Medicine, 2019
Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.
Skowronska M et al.
Clinical Neuroradiology, 2018
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S et al.
European Journal of Human Genetics : Ejhg, 2017
Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.
Skowronska M et al.
Parkinsonism & Related Disorders, 2017
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 2013
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Hartig MB et al.
American Journal of Human Genetics, 2011
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