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Items: 12

1.

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ.

Nat Genet. 2006 Jul;38(7):752-4. Epub 2006 Jun 18. Erratum in: Nat Genet. 2006 Aug;38(8):957.

2.

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.

3.

Fibrillization of alpha-synuclein and tau in familial Parkinson's disease caused by the A53T alpha-synuclein mutation.

Kotzbauer PT, Giasson BI, Kravitz AV, Golbe LI, Mark MH, Trojanowski JQ, Lee VM.

Exp Neurol. 2004 Jun;187(2):279-88.

PMID:
15144854
4.

Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

Hayflick SJ.

J Neurol Sci. 2003 Mar 15;207(1-2):106-7. Review. No abstract available.

PMID:
12614941
5.

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.

6.

Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury.

Newell KL, Boyer P, Gomez-Tortosa E, Hobbs W, Hedley-Whyte ET, Vonsattel JP, Hyman BT.

J Neuropathol Exp Neurol. 1999 Dec;58(12):1263-8.

PMID:
10604751
7.

Neuroaxonal dystrophy with dystonia and pallidal involvement.

Simonati A, Trevisan C, Salviati A, Rizzuto N.

Neuropediatrics. 1999 Jun;30(3):151-4.

PMID:
10480212
8.

Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.

Farina L, Nardocci N, Bruzzone MG, D'Incerti L, Zorzi G, Verga L, Morbin M, Savoiardo M.

Neuroradiology. 1999 May;41(5):376-80.

PMID:
10379598
9.

Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria.

Nardocci N, Zorzi G, Farina L, Binelli S, Scaioli W, Ciano C, Verga L, Angelini L, Savoiardo M, Bugiani O.

Neurology. 1999 Apr 22;52(7):1472-8.

PMID:
10227637
10.

Cellular responses to excess phospholipid.

Baburina I, Jackowski S.

J Biol Chem. 1999 Apr 2;274(14):9400-8.

11.

In vivo diagnosis of Hallervorden-Spatz disease.

Ostergaard JR, Christensen T, Hansen KN.

Dev Med Child Neurol. 1995 Sep;37(9):827-33. Review.

PMID:
7589865
12.

Infantile neuroaxonal dystrophy.

Aicardi J, Castelein P.

Brain. 1979 Dec;102(4):727-48.

PMID:
509195

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