These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
8. [Clinical feature of neuroferritinopathy]. Ohta E Rinsho Shinkeigaku; 2012; 52(11):951-4. PubMed ID: 23196480 [TBL] [Abstract][Full Text] [Related]
9. 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 Neuropathol Appl Neurobiol; 2021 Feb; 47(1):26-42. PubMed ID: 32464705 [TBL] [Abstract][Full Text] [Related]
10. A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies. Moutton S; Fergelot P; Trocello JM; Plante-Bordeneuve V; Houcinat N; Wenisch E; Larue V; Brugières P; Clot F; Lacombe D; Arveiler B; Goizet C Parkinsonism Relat Disord; 2014 Aug; 20(8):935-7. PubMed ID: 24907184 [No Abstract] [Full Text] [Related]
11. A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits. Maccarinelli F; Pagani A; Cozzi A; Codazzi F; Di Giacomo G; Capoccia S; Rapino S; Finazzi D; Politi LS; Cirulli F; Giorgio M; Cremona O; Grohovaz F; Levi S Neurobiol Dis; 2015 Sep; 81():119-33. PubMed ID: 25447222 [TBL] [Abstract][Full Text] [Related]
12. Basal ganglia calcification in a case of PKAN. Fasano A; Shahidi G; Lang AE; Rohani M Parkinsonism Relat Disord; 2017 Mar; 36():98-99. PubMed ID: 28024710 [No Abstract] [Full Text] [Related]
13. A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. Nishida K; Garringer HJ; Futamura N; Funakawa I; Jinnai K; Vidal R; Takao M J Neurol Sci; 2014 Jul; 342(1-2):173-7. PubMed ID: 24825732 [TBL] [Abstract][Full Text] [Related]
14. Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN. Ishiyama A; Kimura Y; Iida A; Saito Y; Miyamoto Y; Okada M; Sato N; Nishino I; Sasaki M Neurology; 2018 May; 90(21):974-976. PubMed ID: 29695595 [No Abstract] [Full Text] [Related]
15. Pathogenic mechanism and modeling of neuroferritinopathy. Cozzi A; Santambrogio P; Ripamonti M; Rovida E; Levi S Cell Mol Life Sci; 2021 Apr; 78(7):3355-3367. PubMed ID: 33439270 [TBL] [Abstract][Full Text] [Related]
16. Neurodegeneration with brain iron accumulation disorder mimics autism. Veeravigrom M; Desudchit T; Chomtho K; Pongpunlert W Pediatr Neurol; 2014 Dec; 51(6):862-3. PubMed ID: 25456304 [No Abstract] [Full Text] [Related]
17. Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up. Cossu G; Abbruzzese G; Matta G; Murgia D; Melis M; Ricchi V; Galanello R; Barella S; Origa R; Balocco M; Pelosin E; Marchese R; Ruffinengo U; Forni GL Parkinsonism Relat Disord; 2014 Jun; 20(6):651-4. PubMed ID: 24661465 [TBL] [Abstract][Full Text] [Related]
18. [Clinical features of neuroferritinopathy]. Ohta E; Nagasaka T; Shindo K; Toma S; Nagasaka K; Miwa M; Takiyama Y; Shiozawa Z Rinsho Shinkeigaku; 2009 May; 49(5):254-61. PubMed ID: 19594102 [TBL] [Abstract][Full Text] [Related]
19. A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy. Turner S; Dress C; Misra VK Eur J Med Genet; 2021 Mar; 64(3):104159. PubMed ID: 33548513 [TBL] [Abstract][Full Text] [Related]