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Items: 1 to 20 of 135

1.

[GENETICALLY DETERMINED DISEASES ASSOCIATED WITH PATHOLOGICAL BRAIN IRON ACCUMULATION AND NEURODEGENERATION].

Ács P, Molnár MJ, Klivényi P, Kálmán B.

Ideggyogy Sz. 2016 Mar 30;69(5-6):157-66. Review. Hungarian.

PMID:
27468605
2.

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. No abstract available.

PMID:
19147629
3.

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.

Meyer E, Kurian MA, Hayflick SJ.

Annu Rev Genomics Hum Genet. 2015;16:257-79. doi: 10.1146/annurev-genom-090314-025011. Review.

PMID:
25973518
4.

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
5.
6.

Therapeutic advances in neurodegeneration with brain iron accumulation.

Zorzi G, Nardocci N.

Int Rev Neurobiol. 2013;110:153-64. doi: 10.1016/B978-0-12-410502-7.00008-9. Review.

PMID:
24209438
7.

Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.

Aoun M, Tiranti V.

Int J Biochem Cell Biol. 2015 Jun;63:25-31. doi: 10.1016/j.biocel.2015.01.018. Review.

PMID:
25668476
8.

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. Erratum in: Nat Genet. 2006 Aug;38(8):957.

9.

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. Review.

PMID:
23212724
10.
11.

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.

Nishioka K, Oyama G, Yoshino H, Li Y, Matsushima T, Takeuchi C, Mochizuki Y, Mori-Yoshimura M, Murata M, Yamasita C, Nakamura N, Konishi Y, Ohi K, Ichikawa K, Terada T, Obi T, Funayama M, Saiki S, Hattori N.

Neurobiol Aging. 2015 May;36(5):2004.e9-2004.e15. doi: 10.1016/j.neurobiolaging.2015.01.020.

PMID:
25744623
12.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

Br J Ophthalmol. 2014 Jul;98(7):889-93.

PMID:
24522175
13.

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
14.

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. Review.

PMID:
25300979
15.

Neurodegeneration with brain iron accumulation: a diagnostic algorithm.

Kruer MC, Boddaert N.

Semin Pediatr Neurol. 2012 Jun;19(2):67-74. doi: 10.1016/j.spen.2012.04.001. Review.

16.

MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).

Kimura Y, Sato N, Sugai K, Maruyama S, Ota M, Kamiya K, Ito K, Nakata Y, Sasaki M, Sugimoto H.

Brain Dev. 2013 May;35(5):458-61. doi: 10.1016/j.braindev.2012.07.008.

PMID:
22892189
17.

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.

18.

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. Review.

19.

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.

Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H.

Neurosci Lett. 2012 Aug 8;523(1):35-8. doi: 10.1016/j.neulet.2012.06.036.

20.

[A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].

Zakharova EY, Rudenskaya GE.

Zh Nevrol Psikhiatr Im S S Korsakova. 2014;114(1):4-12. Russian.

PMID:
24637810
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