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Items: 1 to 20 of 121

1.

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.

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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.

6.

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
7.

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
8.

Hallervorden-Spatz syndrome.

Vakili S, Drew AL, Von Schuching S, Becker D, Zeman W.

Arch Neurol. 1977 Dec;34(12):729-38.

PMID:
201232
9.

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.

10.

Coexistence of TDP-43 and tau pathology in neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome).

Haraguchi T, Terada S, Ishizu H, Yokota O, Yoshida H, Takeda N, Kishimoto Y, Katayama N, Takata H, Akagi M, Kuroda S, Ihara Y, Uchitomi Y.

Neuropathology. 2011 Oct;31(5):531-9. doi: 10.1111/j.1440-1789.2010.01186.x. Epub 2011 Jan 30. Review.

PMID:
21276079
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 in pathologically proven Hallervorden-Spatz disease.

Schaffert DA, Johnsen SD, Johnson PC, Drayer BP.

Neurology. 1989 Mar;39(3):440-2.

PMID:
2927660
14.
15.

The nosology of Hallervorden-spatz disease.

Halliday W.

J Neurol Sci. 1995 Dec;134 Suppl:84-91. Review.

PMID:
8847549
16.

Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.

Woltjer RL, Reese LC, Richardson BE, Tran H, Green S, Pham T, Chalupsky M, Gabriel I, Light T, Sanford L, Jeong SY, Hamada J, Schwanemann LK, Rogers C, Gregory A, Hogarth P, Hayflick SJ.

Mol Genet Metab. 2015 Dec;116(4):289-97. doi: 10.1016/j.ymgme.2015.10.012. Epub 2015 Oct 31.

17.

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.

Li A, Paudel R, Johnson R, Courtney R, Lees AJ, Holton JL, Hardy J, Revesz T, Houlden H.

Neuropathol Appl Neurobiol. 2013 Feb;39(2):121-31. doi: 10.1111/j.1365-2990.2012.01269.x.

18.

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
19.

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
20.

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

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