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Cerebral Iron Deposition in Neurodegeneration.
Dusek P, Hofer T, Alexander J, Roos PM, Aaseth JO. Dusek P, et al. Biomolecules. 2022 May 17;12(5):714. doi: 10.3390/biom12050714. Biomolecules. 2022. PMID: 35625641 Free PMC article. Review.
Yet, other disorders such as aceruloplasminemia, neuroferritinopathy, or Wilson disease manifest with diffuse iron accumulation in the deep gray matter in a pattern comparable to or even more extensive than that observed during normal aging. ...
Yet, other disorders such as aceruloplasminemia, neuroferritinopathy, or Wilson disease manifest with diffuse iron accumulation in th …
Pathogenic mechanism and modeling of neuroferritinopathy.
Cozzi A, Santambrogio P, Ripamonti M, Rovida E, Levi S. Cozzi A, et al. Cell Mol Life Sci. 2021 Apr;78(7):3355-3367. doi: 10.1007/s00018-020-03747-w. Epub 2021 Jan 13. Cell Mol Life Sci. 2021. PMID: 33439270 Free PMC article. Review.
Second, neuroferritinopathy shows the characteristic signs of an accelerated process of aging; thus, it can be considered an interesting model to study the progress of aging. Here, we will review the clinical and neurological features of neuroferritinopathy and summ …
Second, neuroferritinopathy shows the characteristic signs of an accelerated process of aging; thus, it can be considered an interest …
Neurodegeneration with Brain Iron Accumulation.
Schipper DA, Schipper HM. Schipper DA, et al. Adv Exp Med Biol. 2025;1480:291-309. doi: 10.1007/978-3-031-92033-2_19. Adv Exp Med Biol. 2025. PMID: 40603798 Review.
The conditions considered are pantothenate kinase 2-associated neurodegeneration (PKAN), neuroferritinopathy, aceruloplasminemia, Kufor-Rakeb disease (KRD), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Woodhouse-Sakati syndrome (WSS …
The conditions considered are pantothenate kinase 2-associated neurodegeneration (PKAN), neuroferritinopathy, aceruloplasminemia, Kuf …
Pallidal degenerations and related disorders: an update.
Jellinger KA. Jellinger KA. J Neural Transm (Vienna). 2022 Jun;129(5-6):521-543. doi: 10.1007/s00702-021-02392-2. Epub 2021 Aug 7. J Neural Transm (Vienna). 2022. PMID: 34363531 Review.
Based on the involved neuronal systems, this heterogenous group has been classified into several subgroups: "pure" pallidal atrophy (PPA) and extended forms, pallidonigral and pallidonigrospinal degeneration (PND, PNSD), pallidopyramidal syndrome (PPS), a highly debatable group, …
Based on the involved neuronal systems, this heterogenous group has been classified into several subgroups: "pure" pallidal atrophy (PPA) an …
Conservative Iron Chelation for Neuroferritinopathy.
Marchand F, Moreau C, Kuchcinski G, Huin V, Defebvre L, Devos D. Marchand F, et al. Mov Disord. 2022 Sep;37(9):1948-1952. doi: 10.1002/mds.29145. Epub 2022 Aug 22. Mov Disord. 2022. PMID: 35996824 Free PMC article.
BACKGROUND: Neuroferritinopathy is a rare inherited neurodegenerative disease with brain iron accumulation characterized by brain iron overload resulting in progressive movement disorders. ...CONCLUSIONS: Conservative iron chelation should be further assessed in neurofe
BACKGROUND: Neuroferritinopathy is a rare inherited neurodegenerative disease with brain iron accumulation characterized by brain iro …
Cryo-EM structures and functional characterization of homo- and heteropolymers of human ferritin variants.
Irimia-Dominguez J, Sun C, Li K, Muhoberac BB, Hallinan GI, Garringer HJ, Ghetti B, Jiang W, Vidal R. Irimia-Dominguez J, et al. Sci Rep. 2020 Nov 26;10(1):20666. doi: 10.1038/s41598-020-77717-4. Sci Rep. 2020. PMID: 33244127 Free PMC article.
Here, we investigate the molecular basis of the neurodegenerative disease hereditary ferritinopathy (HF), in which dysregulation of brain iron homeostasis is the primary cause of neurodegeneration. ...
Here, we investigate the molecular basis of the neurodegenerative disease hereditary ferritinopathy (HF), in which dysregulati …
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
Kurzawa-Akanbi M, Keogh M, Tsefou E, Ramsay L, Johnson M, Keers S, Wsa Ochieng L, McNair A, Singh P, Khan A, Pyle A, Hudson G, Ince PG, Attems J, Burn J, Chinnery PF, Morris CM. Kurzawa-Akanbi M, et al. Neuropathol Appl Neurobiol. 2021 Feb;47(1):26-42. doi: 10.1111/nan.12634. Epub 2020 Jun 19. Neuropathol Appl Neurobiol. 2021. PMID: 32464705
AIMS: Neuroferritinopathy (NF) or hereditary ferritinopathy (HF) is an autosomal dominant movement disorder due to mutation in the light chain of the iron storage protein ferritin (FTL). ...
AIMS: Neuroferritinopathy (NF) or hereditary ferritinopathy (HF) is an autosomal dominant movement disorder due to muta …
7T MRI detects widespread brain iron deposition in neuroferritinopathy.
Murley AG, Rua C, Biggs H, Rodgers CT, Matys T, van den Ameele J, Horvath R, Chinnery PF. Murley AG, et al. Ann Clin Transl Neurol. 2024 May;11(5):1359-1364. doi: 10.1002/acn3.52053. Epub 2024 Apr 1. Ann Clin Transl Neurol. 2024. PMID: 38561955 Free PMC article.
Neuroferritinopathy is a disorder of neurodegeneration with brain iron accumulation that has no proven disease-modifying treatments. ...We examined brain iron accumulation in one presymptomatic FTL mutation carrier, two individuals with neuroferritinopathy and one h
Neuroferritinopathy is a disorder of neurodegeneration with brain iron accumulation that has no proven disease-modifying treatments.
Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.
Tarnacka B, Jopowicz A, Maślińska M. Tarnacka B, et al. Int J Mol Sci. 2021 Jul 22;22(15):7820. doi: 10.3390/ijms22157820. Int J Mol Sci. 2021. PMID: 34360586 Free PMC article. Review.
In our review, we described diseases related to these metals, such as aceruloplasminaemia, neuroferritinopathy, pantothenate kinase-associated neurodegeneration (PKAN) and other very rare classical NBIA forms, manganism, attention-deficit/hyperactivity disorder (ADHD), eph …
In our review, we described diseases related to these metals, such as aceruloplasminaemia, neuroferritinopathy, pantothenate kinase-a …
Seizures in Hereditary Aceruloplasminemia.
Marano M, Bove F, Ricci L, Rohani M, Di Lazzaro V, Assenza G, Fasano A. Marano M, et al. Can J Neurol Sci. 2021 Jan;48(1):144-147. doi: 10.1017/cjn.2020.171. Epub 2020 Aug 3. Can J Neurol Sci. 2021. PMID: 32741407 No abstract available.
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