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Results: 1 to 20 of 55

1.

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

Egan RA, Weleber RG, Hogarth P, Gregory A, Coryell J, Westaway SK, Gitschier J, Das S, Hayflick SJ.

Am J Ophthalmol. 2005 Aug;140(2):267-74.

PMID:
16023068
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome.

Baumeister FA, Auer DP, Hörtnagel K, Freisinger P, Meitinger T.

Neuropediatrics. 2005 Jun;36(3):221-2.

PMID:
15944911
[PubMed - indexed for MEDLINE]
3.

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration.

Castelnau P, Cif L, Valente EM, Vayssiere N, Hemm S, Gannau A, Digiorgio A, Coubes P.

Ann Neurol. 2005 May;57(5):738-41.

PMID:
15852393
[PubMed - indexed for MEDLINE]
4.

MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients.

Hájek M, Adamovicová M, Herynek V, Skoch A, Jírů F, Krepelová A, Dezortová M.

Eur Radiol. 2005 May;15(5):1060-8. Epub 2004 Nov 24.

PMID:
15565311
[PubMed - indexed for MEDLINE]
5.

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.

Kuo YM, Duncan JL, Westaway SK, Yang H, Nune G, Xu EY, Hayflick SJ, Gitschier J.

Hum Mol Genet. 2005 Jan 1;14(1):49-57. Epub 2004 Nov 3.

PMID:
15525657
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.

Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, Hayflick SJ.

Ann N Y Acad Sci. 2004 Mar;1012:282-98.

PMID:
15105273
[PubMed - indexed for MEDLINE]
7.

Pantothenate kinase-associated neurodegeneration: MR imaging, proton MR spectroscopy, and diffusion MR imaging findings.

Sener RN.

AJNR Am J Neuroradiol. 2003 Sep;24(8):1690-3.

PMID:
13679293
[PubMed - indexed for MEDLINE]
Free Article
8.

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.

PMID:
12510040
[PubMed - indexed for MEDLINE]
Free Article
9.

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.

Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ.

Neurology. 2002 Jun 11;58(11):1673-4.

PMID:
12058097
[PubMed - indexed for MEDLINE]
10.

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.

Hayflick SJ, Penzien JM, Michl W, Sharif UM, Rosman NP, Wheeler PG.

Pediatr Neurol. 2001 Aug;25(2):166-9.

PMID:
11551748
[PubMed - indexed for MEDLINE]
11.

Iron in the Hallervorden-Spatz syndrome.

Koeppen AH, Dickson AC.

Pediatr Neurol. 2001 Aug;25(2):148-55. Review.

PMID:
11551745
[PubMed - indexed for MEDLINE]
12.

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

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

Nat Genet. 2001 Aug;28(4):345-9.

PMID:
11479594
[PubMed - indexed for MEDLINE]
13.

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J.

Nat Genet. 2001 Aug;28(4):350-4.

PMID:
11438811
[PubMed - indexed for MEDLINE]
14.

Palilalia and repetitive speech: two case studies.

Benke T, Butterworth B.

Brain Lang. 2001 Jul;78(1):62-81.

PMID:
11412016
[PubMed - indexed for MEDLINE]
15.

fumble encodes a pantothenate kinase homolog required for proper mitosis and meiosis in Drosophila melanogaster.

Afshar K, Gönczy P, DiNardo S, Wasserman SA.

Genetics. 2001 Mar;157(3):1267-76.

PMID:
11238410
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Configuration of thiols dictates their ability to promote iron-induced reactive oxygen species generation.

Yang EY, Campbell A, Bondy SC.

Redox Rep. 2000;5(6):371-5.

PMID:
11140748
[PubMed - indexed for MEDLINE]
17.

Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies.

Neumann M, Adler S, Schlüter O, Kremmer E, Benecke R, Kretzschmar HA.

Acta Neuropathol. 2000 Nov;100(5):568-74.

PMID:
11045680
[PubMed - indexed for MEDLINE]
18.

Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course.

Saito Y, Kawai M, Inoue K, Sasaki R, Arai H, Nanba E, Kuzuhara S, Ihara Y, Kanazawa I, Murayama S.

J Neurol Sci. 2000 Aug 1;177(1):48-59. Review.

PMID:
10967182
[PubMed - indexed for MEDLINE]
19.

Repetitive speech phenomena in Parkinson's disease.

Benke T, Hohenstein C, Poewe W, Butterworth B.

J Neurol Neurosurg Psychiatry. 2000 Sep;69(3):319-24.

PMID:
10945806
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology.

Galvin JE, Giasson B, Hurtig HI, Lee VM, Trojanowski JQ.

Am J Pathol. 2000 Aug;157(2):361-8.

PMID:
10934140
[PubMed - indexed for MEDLINE]
Free PMC Article

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