Associated Papers
Inflammation and oligoclonal bands in cerebrospinal fluid in neurodegeneration associated with C19orf12 mutations.
Skowrońska M et al.
Parkinsonism & Related Disorders, 2026
Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers.
Skowrońska M et al.
Cells, 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
Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).
Wydrych A et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene.
Krogulec E et al.
Stem Cell Research, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Brankovic M et al.
Neurogenetics, 2024
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
Iankova V et al.
Brain : a Journal of Neurology, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.
Kaja E et al.
International Journal of Molecular Sciences, 2022
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H et al.
Ebiomedicine, 2022
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.
Mercan S et al.
Neurocase, 2022
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.
Remiche G et al.
Neurogenetics, 2021
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Sparber P et al.
Parkinsonism & Related Disorders, 2021
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).
Hinarejos I et al.
Antioxidants (basel, Switzerland), 2020
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Dusek P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A et al.
Molecular Genetics & Genomic Medicine, 2019
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.
Akçakaya NH et al.
Neurologia I Neurochirurgia Polska, 2019
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.
Sparber P et al.
Neurogenetics, 2018
Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.
Skowronska M et al.
Clinical Neuroradiology, 2018
A de novo C19orf12 heterozygous mutation in a patient with MPAN.
Monfrini E et al.
Parkinsonism & Related Disorders, 2018
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
A 30-year history of MPAN case from Russia.
Selikhova M et al.
Clinical Neurology and Neurosurgery, 2017
Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.
Skowronska M et al.
Parkinsonism & Related Disorders, 2017
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
Olgiati S et al.
Parkinsonism & Related Disorders, 2017
Mitochondrial membrane protein-associated neurodegeneration.
Deutschländer A et al.
Parkinsonism & Related Disorders, 2017
Neurodegeneration with brain iron accumulation.
Wiethoff S et al.
Handbook of Clinical Neurology, 2017
Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).
Langwinska-Wosko E et al.
Journal of the Neurological Sciences, 2016
Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration.
Skowronska M et al.
Journal of the Neurological Sciences, 2015
Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy.
Löbel U et al.
Annals of Clinical and Translational Neurology, 2014
[A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].
Zakharova EY et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2014
Newly characterized forms of neurodegeneration with brain iron accumulation.
Doorn JM et al.
Current Neurology and Neuroscience Reports, 2013
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
Goldman JG et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Hogarth P et al.
Neurology, 2013
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