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Results: 1 to 20 of 238

1.

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.

Wu Z, Li C, Lv S, Zhou B.

Hum Mol Genet. 2009 Oct 1;18(19):3659-72. doi: 10.1093/hmg/ddp314. Epub 2009 Jul 13.

PMID:
19602483
[PubMed - indexed for MEDLINE]
Free Article
2.

Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.

Zhang YM, Rock CO, Jackowski S.

J Biol Chem. 2006 Jan 6;281(1):107-14. Epub 2005 Nov 3.

PMID:
16272150
[PubMed - indexed for MEDLINE]
Free Article
3.

Dietary rescue of fumble--a Drosophila model for pantothenate-kinase-associated neurodegeneration.

Yang Y, Wu Z, Kuo YM, Zhou B.

J Inherit Metab Dis. 2005;28(6):1055-64.

PMID:
16435199
[PubMed - indexed for MEDLINE]
4.

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.

Doi H, Koyano S, Miyatake S, Matsumoto N, Kameda T, Tomita A, Miyaji Y, Suzuki Y, Sawaishi Y, Kuroiwa Y.

J Neurol Sci. 2010 Mar 15;290(1-2):172-6. doi: 10.1016/j.jns.2009.11.008. Epub 2009 Dec 14.

PMID:
20006850
[PubMed - indexed for MEDLINE]
5.
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.

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

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

Hum Genet. 2006 Jul;119(6):671-2. No abstract available.

PMID:
17128452
[PubMed - indexed for MEDLINE]
8.

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.

Hayflick SJ.

Curr Opin Pediatr. 2003 Dec;15(6):572-7. Review.

PMID:
14631201
[PubMed - indexed for MEDLINE]
9.

Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.

Chan KY, Lam CW, Lee LP, Tong SF, Yuen YP.

Hong Kong Med J. 2008 Feb;14(1):70-3.

PMID:
18239249
[PubMed - indexed for MEDLINE]
Free Article
10.

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

Cangül H, Ozdemir O, Yakut T, Okan M, Morgan NV, Baytan B, Kurian MA, Spiegel R, Maher ER.

Turk J Pediatr. 2009 Mar-Apr;51(2):161-5.

PMID:
19480328
[PubMed - indexed for MEDLINE]
Free Article
11.

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration.

Rana A, Seinen E, Siudeja K, Muntendam R, Srinivasan B, van der Want JJ, Hayflick S, Reijngoud DJ, Kayser O, Sibon OC.

Proc Natl Acad Sci U S A. 2010 Apr 13;107(15):6988-93. doi: 10.1073/pnas.0912105107. Epub 2010 Mar 29.

PMID:
20351285
[PubMed - indexed for MEDLINE]
Free PMC Article
12.
13.

Gene symbol: PANK2. Disease: Pantothenate kinase associated neurodegeneration (PKAN).

Wieczorek SW, Epplen JT.

Hum Genet. 2005 May;116(6):545. No abstract available.

PMID:
15991335
[PubMed - indexed for MEDLINE]
14.

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria.

Hörtnagel K, Prokisch H, Meitinger T.

Hum Mol Genet. 2003 Feb 1;12(3):321-7.

PMID:
12554685
[PubMed - indexed for MEDLINE]
Free Article
15.

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
16.

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.

Zhang YH, Tang BS, Zhao AL, Xia K, Long ZG, Guo JF, Westaway SK, Hayflick SJ.

Mov Disord. 2005 Jul;20(7):819-21.

PMID:
15747360
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.

Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B.

Neurology. 2005 May 24;64(10):1810-2.

PMID:
15911822
[PubMed - indexed for MEDLINE]
18.

Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.

Klopstock T, Elstner M, Lücking CB, Müller-Myhsok B, Gasser T, Botz E, Lichtner P, Hörtnagel K.

Neurosci Lett. 2005 May 13;379(3):195-8.

PMID:
15843062
[PubMed - indexed for MEDLINE]
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.

PMID:
12510040
[PubMed - indexed for MEDLINE]
Free Article
20.

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]

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