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Neurodegeneration with brain iron accumulation.
Hayflick SJ, Kurian MA, Hogarth P. Hayflick SJ, et al. Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. Handb Clin Neurol. 2018. PMID: 29325618 Free PMC article. Review.
The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A(2)-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mut …
The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phosph …
Redesigning therapies for pantothenate kinase-associated neurodegeneration.
Munshi MI, Yao SJ, Ben Mamoun C. Munshi MI, et al. J Biol Chem. 2022 Mar;298(3):101577. doi: 10.1016/j.jbc.2022.101577. Epub 2022 Jan 15. J Biol Chem. 2022. PMID: 35041826 Free PMC article. Review.
Pantothenate kinase-associated neurodegeneration (PKAN) is an incurable rare genetic disorder of children and young adults caused by mutations in the PANK2 gene, which encodes an enzyme critical for the biosynthesis of coenzyme A. ...
Pantothenate kinase-associated neurodegeneration (PKAN) is an incurable rare genetic disorder of children and young adults caused by mutatio …
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great gene …
First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation …
Status dystonicus: management and prevention in children at high risk.
Iodice A, Pisani F. Iodice A, et al. Acta Biomed. 2019 Sep 6;90(3):207-212. doi: 10.23750/abm.v90i3.7207. Acta Biomed. 2019. PMID: 31580306 Free PMC article. Review.
RESULTS: Genetic predisposition included: primary dystonias particularly in the case of TOR1A mutation; epileptic encephalopathy such as ARX and GNAO1 genetic variants and neurodegenerative disorders as PANK2. Early recognition of SD should be oriented by the following sig …
RESULTS: Genetic predisposition included: primary dystonias particularly in the case of TOR1A mutation; epileptic encephalopathy such as ARX …
NBIA Syndromes: A Step Forward from the Previous Knowledge.
Svetel M, Dragašević N, Petrović I, Novaković I, Tomić A, Kresojević N, Stanković I, Kostić V. Svetel M, et al. Neurol India. 2021 Sep-Oct;69(5):1380-1388. doi: 10.4103/0028-3886.329603. Neurol India. 2021. PMID: 34747818 Free article. Review.
Among NBIAs, the most common is pantothenate kinase-associated neurodegeneration (PKAN-NBIA 1) (30%-50% of all NBIA cases), that occurrs as a consequence of the autosomal recessive mutation in PANK2 gene, followed by phospholipase 2-associated neurodegeneration (PLAN, NBIA …
Among NBIAs, the most common is pantothenate kinase-associated neurodegeneration (PKAN-NBIA 1) (30%-50% of all NBIA cases), that occurrs as …
A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
Wu MC, Chang YY, Lan MY, Chen YF, Tai CH, Lin YF, Tsai SF, Chen PL, Lin CH. Wu MC, et al. J Mol Diagn. 2022 Mar;24(3):262-273. doi: 10.1016/j.jmoldx.2021.12.003. Epub 2022 Jan 15. J Mol Diagn. 2022. PMID: 35041927 Free article.
Genetic causes were identified from single cases in TOR1A, TUBB4A, THAP1, ATP1A3, ANO3, GNAL, KMT2B, SLC6A3, ADCY5, CYP27A1, PANK2, C19orf12, and SPG11. The whole-genome sequencing analysis identified a novel intragenic deletion in OPHN1 in a multiplex family with X-linked …
Genetic causes were identified from single cases in TOR1A, TUBB4A, THAP1, ATP1A3, ANO3, GNAL, KMT2B, SLC6A3, ADCY5, CYP27A1, PANK2, C …
Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration.
Thakur N, Klopstock T, Jackowski S, Kuscer E, Tricta F, Videnovic A, Jinnah HA. Thakur N, et al. Mov Disord. 2021 Sep;36(9):2005-2016. doi: 10.1002/mds.28642. Epub 2021 May 18. Mov Disord. 2021. PMID: 34002881 Review.
BACKGROUND: This review highlights the recent scientific advances that have enabled rational design of novel clinical trials for pantothenate kinase-associated neurodegeneration (PKAN), a rare autosomal recessive neurogenetic disorder associated with progressive neurodegenerative …
BACKGROUND: This review highlights the recent scientific advances that have enabled rational design of novel clinical trials for pantothenat …
Silencing of pantothenate kinase 2 reduces endothelial cell angiogenesis.
Pagani F, Trivedi A, Khatri D, Zizioli D, Garrafa E, Mitola S, Finazzi D. Pagani F, et al. Mol Med Rep. 2018 Nov;18(5):4739-4746. doi: 10.3892/mmr.2018.9480. Epub 2018 Sep 13. Mol Med Rep. 2018. PMID: 30221726
Its de novo production relies on five subsequent enzymatic steps, starting with the phosphorylation of vitamin B5. Pantothenate kinase 2 (PANK2) and coenzyme A synthase (COASY) catalyze the first and last steps of this pathway. ...Given the ubiquitous …
Its de novo production relies on five subsequent enzymatic steps, starting with the phosphorylation of vitamin B5. Pantothenate ki
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.
Tello C, Darling A, Lupo V, Pérez-Dueñas B, Espinós C. Tello C, et al. Clin Genet. 2018 Apr;93(4):731-740. doi: 10.1111/cge.13057. Epub 2017 Sep 25. Clin Genet. 2018. PMID: 28542792 Review.
In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19orf12, COASY, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17; and nonetheless, a relevant percentage of patients remain without genetic diagnosis, …
In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19or …
Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos.
Khatri D, Zizioli D, Trivedi A, Borsani G, Monti E, Finazzi D. Khatri D, et al. Neuromolecular Med. 2019 Jun;21(2):120-131. doi: 10.1007/s12017-018-8508-8. Epub 2018 Aug 23. Neuromolecular Med. 2019. PMID: 30141000
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a genetic and early-onset neurodegenerative disorder characterized by iron accumulation in the basal ganglia. It is due to mutations in Pantothenate Kinase 2 (PANK2), an enzyme that catalyzes t …
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a genetic and early-onset neurodegenerative disorder characterized by iron accumu …
64 results