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Items: 1 to 20 of 170

1.

Clinical and genetic delineation of neurodegeneration with brain iron accumulation.

Gregory A, Polster BJ, Hayflick SJ.

J Med Genet. 2009 Feb;46(2):73-80. doi: 10.1136/jmg.2008.061929. Epub 2008 Nov 3. Review.

2.

Neurodegeneration with brain iron accumulation.

McNeill A, Chinnery PF.

Handb Clin Neurol. 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4. Review.

PMID:
21496576
3.
4.

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.

McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, Shang H, Miyajima H, Chinnery PF.

Neurology. 2008 Apr 29;70(18):1614-9. doi: 10.1212/01.wnl.0000310985.40011.d6.

5.

Clinicopathological variability in neurodegeneration with brain iron accumulation.

Vincze A, Kapás I, Molnar MJ, Kovács GG.

Ideggyogy Sz. 2010 Mar 30;63(3-4):129-35.

PMID:
20405671
6.

Neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ.

Folia Neuropathol. 2005;43(4):286-96. Review.

7.

Neurodegeneration associated with genetic defects in phospholipase A(2).

Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ.

Neurology. 2008 Oct 28;71(18):1402-9. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17.

8.

Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).

Schneider SA, Bhatia KP.

J Neural Transm (Vienna). 2013 Apr;120(4):695-703. doi: 10.1007/s00702-012-0922-8. Epub 2012 Dec 2. Review.

PMID:
23212724
9.

Axonal dystrophies.

Nardocci N, Zorzi G.

Handb Clin Neurol. 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. Review.

PMID:
23622415
10.

Genetics of neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ.

Curr Neurol Neurosci Rep. 2011 Jun;11(3):254-61. doi: 10.1007/s11910-011-0181-3. Review.

PMID:
21286947
11.

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.

Venco P, Dusi S, Valletta L, Tiranti V.

Biochem Soc Trans. 2014 Aug;42(4):1069-74. doi: 10.1042/BST20140106. Review.

PMID:
25110004
12.

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ.

Nat Genet. 2006 Jul;38(7):752-4. Epub 2006 Jun 18. Erratum in: Nat Genet. 2006 Aug;38(8):957.

13.

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C.

Brain Dev. 2017 Feb;39(2):93-100. doi: 10.1016/j.braindev.2016.08.012. Epub 2016 Nov 21. Review.

PMID:
27884548
14.

Current concepts and controversies in neurodegeneration with brain iron accumulation.

Keogh MJ, Chinnery PF.

Semin Pediatr Neurol. 2012 Jun;19(2):51-6. doi: 10.1016/j.spen.2012.03.004.

PMID:
22704257
15.
16.

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.

Colombelli C, Aoun M, Tiranti V.

J Inherit Metab Dis. 2015 Jan;38(1):123-36. doi: 10.1007/s10545-014-9770-z. Epub 2014 Oct 10. Review.

PMID:
25300979
17.

Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?

Schneider SA, Hardy J, Bhatia KP.

J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):589-90. doi: 10.1136/jnnp.2008.169953. Epub 2009 Jan 15. No abstract available.

PMID:
19147629
18.

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.

Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT.

PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897.

19.

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.

Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'Amato I, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V.

Hum Mol Genet. 2012 Dec 15;21(24):5294-305. doi: 10.1093/hmg/dds380. Epub 2012 Sep 13.

20.

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).

Kurian MA, McNeill A, Lin JP, Maher ER.

Dev Med Child Neurol. 2011 May;53(5):394-404. doi: 10.1111/j.1469-8749.2011.03955.x. Review.

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