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Items: 1 to 20 of 89

1.

Neurodegeneration with brain iron accumulation disorder mimics autism.

Veeravigrom M, Desudchit T, Chomtho K, Pongpunlert W.

Pediatr Neurol. 2014 Dec;51(6):862-3. doi: 10.1016/j.pediatrneurol.2014.08.033. Epub 2014 Sep 21. No abstract available.

PMID:
25456304
2.

Basal ganglia calcification in a case of PKAN.

Fasano A, Shahidi G, Lang AE, Rohani M.

Parkinsonism Relat Disord. 2017 Mar;36:98-99. doi: 10.1016/j.parkreldis.2016.12.016. Epub 2016 Dec 21. No abstract available.

PMID:
28024710
3.

Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration.

Skowronska M, Kmiec T, Kurkowska-Jastrzębska I, Czlonkowska A.

J Neurol Sci. 2015 May 15;352(1-2):110-1. doi: 10.1016/j.jns.2015.03.019. Epub 2015 Mar 20. No abstract available.

PMID:
25819119
4.

[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].

Muramatsu K.

No To Hattatsu. 2016 May;48(3):177-83. Review. Japanese. No abstract available.

PMID:
27349079
5.

Idiopathic NBIA--clinical spectrum and transcranial sonography findings.

Brüggemann N, Wuerfel J, Petersen D, Klein C, Hagenah J, Schneider SA.

Eur J Neurol. 2011 Jun;18(6):e58-9. doi: 10.1111/j.1468-1331.2010.03298.x. Epub 2011 Jan 18. No abstract available.

PMID:
21244580
6.

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
7.

Case 193: Neuroferritinopathy--a brain iron accumulation and neurodegenerative disorder.

Fatima Z, Ishigame K, Araki T.

Radiology. 2013 May;267(2):650-5. doi: 10.1148/radiol.13111136. No abstract available.

PMID:
23610097
8.

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
9.

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.

10.

Cortical pencil lining in neuroferritinopathy: a diagnostic clue.

Batla A, Adams ME, Erro R, Ganos C, Balint B, Mencacci NE, Bhatia KP.

Neurology. 2015 Apr 28;84(17):1816-8. doi: 10.1212/WNL.0000000000001511. Epub 2015 Apr 1. No abstract available.

11.

Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation.

Yazar MS, Fistikci N, Balaban OD, Eradamlar N, Alpkan L.

Clin Schizophr Relat Psychoses. Fall 2016;10(3):178-180. No abstract available.

PMID:
27732100
12.

[Psychopathology and hypodense basal ganglion lesions: early manifestation of cognitive-mnestic deficits in an 18-year-old male patient with familial neurodegeneration and iron accumulation in the brain].

Eßer A, Rausch F, Eifler S, Zink M.

Nervenarzt. 2013 Jul;84(7):851-3. doi: 10.1007/s00115-012-3617-3. German. No abstract available.

PMID:
22911319
13.

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. Epub 2012 Aug 11.

PMID:
22892189
14.

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, Haack TB.

J Neurol. 2012 Nov;259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15.

PMID:
22584950
15.

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
16.

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.

17.

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

Morisada N, Tsuneishi S, Taguchi K, Yagi R, Nishiyama M, Toyoshima D, Nakagawa T, Takeshima Y, Takada S, Iijima K.

No To Hattatsu. 2016 May;48(3):209-12. Japanese.

PMID:
27349085
18.

Neurodegeneration with brain iron accumulation.

Limongi JC.

Arq Neuropsiquiatr. 2016 Jul;74(7):517-8. doi: 10.1590/0004-282X20160102. No abstract available.

19.

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.

Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Review.

PMID:
26481852
20.

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Long M, Abdeen N, Geraghty MT, Hogarth P, Hayflick S, Venkateswaran S.

Pediatrics. 2015 Sep;136(3):e714-7. doi: 10.1542/peds.2015-0750. Epub 2015 Aug 3.

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