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Items: 1 to 20 of 214

1.

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.

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.

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
4.

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.

5.
6.

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
7.

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER.

Neurology. 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e.

PMID:
18443314
8.

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.

9.

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

Hayflick SJ, Hartman M, Coryell J, Gitschier J, Rowley H.

AJNR Am J Neuroradiol. 2006 Jun-Jul;27(6):1230-3.

10.

Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging.

Shah SO, Mehta H, Fekete R.

Case Rep Neurol. 2012 Sep;4(3):216-23. doi: 10.1159/000345871. Epub 2012 Dec 5.

11.

Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.

Schneider SA, Hardy J, Bhatia KP.

Mov Disord. 2012 Jan;27(1):42-53. doi: 10.1002/mds.23971. Epub 2011 Oct 26. Review.

PMID:
22031173
12.

"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).

Yoganathan S, Sudhakar SV, Thomas M, Dutta AK, Danda S.

Brain Dev. 2016 May;38(5):516-9. doi: 10.1016/j.braindev.2015.10.017. Epub 2015 Nov 18.

PMID:
26602591
13.

Involvement of globus pallidus and midbrain nuclei in pantothenate kinase-associated neurodegeneration: measurement of T2 and T2* time.

Fermin-Delgado R, Roa-Sanchez P, Speckter H, Perez-Then E, Rivera-Mejia D, Foerster B, Stoeter P.

Clin Neuroradiol. 2013 Mar;23(1):11-5. doi: 10.1007/s00062-011-0127-9. Epub 2012 Jan 19.

PMID:
22258188
14.

Update on neurodegeneration with brain iron accumulation.

Popławska-Domaszewicz K, Florczak-Wyspiańska J, Kozubski W.

Neurol Neurochir Pol. 2014;48(3):206-13. doi: 10.1016/j.pjnns.2014.05.001. Epub 2014 May 17. Review.

PMID:
24981186
15.

Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up.

Cossu G, Abbruzzese G, Matta G, Murgia D, Melis M, Ricchi V, Galanello R, Barella S, Origa R, Balocco M, Pelosin E, Marchese R, Ruffinengo U, Forni GL.

Parkinsonism Relat Disord. 2014 Jun;20(6):651-4. doi: 10.1016/j.parkreldis.2014.03.002. Epub 2014 Mar 12.

PMID:
24661465
16.

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Aggarwal A, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M.

Mov Disord. 2010 Jul 30;25(10):1424-31. doi: 10.1002/mds.23095.

PMID:
20629144
17.

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
18.

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
19.

Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.

Rossi D, De Grandis E, Barzaghi C, Mascaretti M, Garavaglia B, Zanotto E, Morana G, Biancheri R.

Brain Dev. 2012 Jun;34(6):536-8. doi: 10.1016/j.braindev.2011.09.010. Epub 2011 Oct 14.

PMID:
21999968
20.

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

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