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Items: 1 to 20 of 104

1.

Neuroferritinopathy: update on clinical features and pathogenesis.

McNeill A, Chinnery PF.

Curr Drug Targets. 2012 Aug;13(9):1200-3.

PMID:
22515742
2.

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. doi: 10.1016/j.nbd.2014.10.023. Epub 2014 Nov 4.

3.

Neuroferritinopathy.

Lehn A, Boyle R, Brown H, Airey C, Mellick G.

Parkinsonism Relat Disord. 2012 Sep;18(8):909-15. doi: 10.1016/j.parkreldis.2012.06.021. Epub 2012 Jul 17. Review.

PMID:
22818529
4.

[Clinical feature of neuroferritinopathy].

Ohta E.

Rinsho Shinkeigaku. 2012;52(11):951-4. Japanese.

PMID:
23196480
5.

Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity.

Keogh MJ, Aribisala BS, He J, Tulip E, Butteriss D, Morris C, Gorman G, Horvath R, Chinnery PF, Blamire AM.

J Neurol. 2015 Oct;262(10):2232-40. doi: 10.1007/s00415-015-7832-2. Epub 2015 Jul 4.

PMID:
26142024
6.

Neuroferritinopathy: a new inborn error of iron metabolism.

Keogh MJ, Jonas P, Coulthard A, Chinnery PF, Burn J.

Neurogenetics. 2012 Feb;13(1):93-6. doi: 10.1007/s10048-011-0310-9. Epub 2012 Jan 26.

7.

Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.

McNeill A, Gorman G, Khan A, Horvath R, Blamire AM, Chinnery PF.

AJNR Am J Neuroradiol. 2012 Oct;33(9):1810-3. doi: 10.3174/ajnr.A3036. Epub 2012 Apr 12.

8.

[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. Review. Japanese.

PMID:
19594102
9.

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 15;342(1-2):173-7. doi: 10.1016/j.jns.2014.03.060. Epub 2014 Apr 12.

10.

[Neuropathology of superficial hemosiderosis and neuroferritinopathy].

Takao M.

Rinsho Shinkeigaku. 2012;52(11):959-61. Japanese.

PMID:
23196482
11.

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. doi: 10.1016/j.parkreldis.2014.04.026. Epub 2014 May 9. No abstract available.

PMID:
24907184
12.

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

Levi S, Rovida E.

Neurobiol Dis. 2015 Sep;81:134-43. doi: 10.1016/j.nbd.2015.02.007. Epub 2015 Mar 12. Review.

13.

Behavioral characterization of mouse models of neuroferritinopathy.

Capoccia S, Maccarinelli F, Buffoli B, Rodella LF, Cremona O, Arosio P, Cirulli F.

PLoS One. 2015 Feb 17;10(2):e0118990. doi: 10.1371/journal.pone.0118990. eCollection 2015.

14.

Neuroferritinopathy.

Keogh MJ, Morris CM, Chinnery PF.

Int Rev Neurobiol. 2013;110:91-123. doi: 10.1016/B978-0-12-410502-7.00006-5. Review.

PMID:
24209436
15.

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombès A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J.

Brain. 2007 Jan;130(Pt 1):110-9. Epub 2006 Dec 2.

16.

Abnormal iron homeostasis and neurodegeneration.

Muhoberac BB, Vidal R.

Front Aging Neurosci. 2013 Jul 30;5:32. doi: 10.3389/fnagi.2013.00032. eCollection 2013.

17.

Neuroferritinopathy.

Burn J, Chinnery PF.

Semin Pediatr Neurol. 2006 Sep;13(3):176-81.

PMID:
17101456
18.

An unusual gait following the discovery of a new disease.

Keogh MJ, Khan A, Gorman G, McNeill A, Horvath R, Burn J, Chinnery PF.

Pract Neurol. 2011 Apr;11(2):81-4. doi: 10.1136/jnnp.2011.242230.

PMID:
21385964
19.

FTL mutation in a Chinese pedigree with neuroferritinopathy.

Ni W, Li HF, Zheng YC, Wu ZY.

Neurol Genet. 2016 Apr 27;2(3):e74. doi: 10.1212/NXG.0000000000000074. eCollection 2016 Jun.

20.

Neuroferritinopathy: a window on the role of iron in neurodegeneration.

Crompton DE, Chinnery PF, Fey C, Curtis AR, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J.

Blood Cells Mol Dis. 2002 Nov-Dec;29(3):522-31.

PMID:
12547246
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