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Items: 1 to 20 of 74

1.

Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.

Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, Hogarth P, Hayflick SJ.

Mov Disord. 2013 Sep;28(10):1462-3. doi: 10.1002/mds.25410. Epub 2013 Mar 13. No abstract available.

PMID:
23494994
2.

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Schulte EC, Claussen MC, Jochim A, Haack T, Hartig M, Hempel M, Prokisch H, Haun-Jünger U, Winkelmann J, Hemmer B, Förschler A, Ilg R.

Mov Disord. 2013 Feb;28(2):224-7. doi: 10.1002/mds.25256. Epub 2012 Nov 19.

PMID:
23436634
3.

Newly characterized forms of neurodegeneration with brain iron accumulation.

Doorn JM, Kruer MC.

Curr Neurol Neurosci Rep. 2013 Dec;13(12):413. doi: 10.1007/s11910-013-0413-9. Review.

4.

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E.

Mov Disord. 2013 Feb;28(2):228-32. doi: 10.1002/mds.25271. Epub 2012 Nov 19.

PMID:
23166001
5.

[Neurodegeneration with brain iron accumulation].

Bertelsen M, Hansen LK.

Ugeskr Laeger. 2015 May 25;177(22):V10140562. Danish.

PMID:
26027671
6.

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.

Gagliardi M, Annesi G, Lesca G, Broussolle E, Iannello G, Vaiti V, Gambardella A, Quattrone A.

Parkinsonism Relat Disord. 2015 Jul;21(7):813-6. doi: 10.1016/j.parkreldis.2015.04.009. Epub 2015 Apr 23.

PMID:
25962551
7.

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
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.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H.

Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

10.

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.

Kruer MC, Hiken M, Gregory A, Malandrini A, Clark D, Hogarth P, Grafe M, Hayflick SJ, Woltjer RL.

Brain. 2011 Apr;134(Pt 4):947-58. doi: 10.1093/brain/awr042.

11.

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
12.

Iron deposits in the subthalamic nuclei in Hallervorden-Spatz disease.

Müller T, Amoiridis G, Kuhn W, Przuntek H.

Eur Neurol. 1999;42(4):240-1. No abstract available.

PMID:
10567823
13.

Magnetic resonance imaging and Hallervorden-Spatz syndrome.

Trimble M.

CNS Spectr. 2003 Jun;8(6):420. No abstract available.

PMID:
12868452
14.

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.

15.

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

Dogu O, Krebs CE, Kaleagasi H, Demirtas Z, Oksuz N, Walker RH, Paisán-Ruiz C.

Clin Genet. 2013 Oct;84(4):350-5. doi: 10.1111/cge.12079. Epub 2013 Jan 21.

PMID:
23278385
17.

Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options.

Clement F, Devos D, Moreau C, Coubes P, Destee A, Defebvre L.

Acta Neurol Belg. 2007 Mar;107(1):26-31.

PMID:
17569231
18.
19.

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.

N Engl J Med. 2003 Jan 2;348(1):33-40.

20.

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

Hartig M, Prokisch H, Meitinger T, Klopstock T.

Int Rev Neurobiol. 2013;110:73-84. doi: 10.1016/B978-0-12-410502-7.00004-1. Review.

PMID:
24209434

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