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Items: 1 to 20 of 37

1.

PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort.

Shi CH, Tang BS, Wang L, Lv ZY, Wang J, Luo LZ, Shen L, Jiang H, Yan XX, Pan Q, Xia K, Guo JF.

Neurology. 2011 Jul 5;77(1):75-81. doi: 10.1212/WNL.0b013e318221acd3. Epub 2011 Jun 22.

PMID:
21700586
2.

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.

Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N.

Neurology. 2010 Oct 12;75(15):1356-61. doi: 10.1212/WNL.0b013e3181f73649.

PMID:
20938027
3.

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

Tonelli A, Romaniello R, Grasso R, Cavallini A, Righini A, Bresolin N, Borgatti R, Bassi MT.

Clin Genet. 2010 Nov;78(5):432-40. doi: 10.1111/j.1399-0004.2010.01417.x.

PMID:
20584031
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.

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.

6.

Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA.

Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415.

PMID:
18570303
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.

Age-related changes in bone morphology are accelerated in group VIA phospholipase A2 (iPLA2beta)-null mice.

Ramanadham S, Yarasheski KE, Silva MJ, Wohltmann M, Novack DV, Christiansen B, Tu X, Zhang S, Lei X, Turk J.

Am J Pathol. 2008 Apr;172(4):868-81. doi: 10.2353/ajpath.2008.070756. Epub 2008 Mar 18.

9.

Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations.

Malik I, Turk J, Mancuso DJ, Montier L, Wohltmann M, Wozniak DF, Schmidt RE, Gross RW, Kotzbauer PT.

Am J Pathol. 2008 Feb;172(2):406-16. doi: 10.2353/ajpath.2008.070823. Epub 2008 Jan 17.

10.

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombès A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J.

Brain. 2007 Jan;130(Pt 1):110-9. Epub 2006 Dec 2.

PMID:
17142829
11.

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS.

Am J Hum Genet. 2006 Nov;79(5):942-8. Epub 2006 Sep 19.

12.

Group VIA calcium-independent phospholipase A2 mediates endothelial cell S phase progression.

Herbert SP, Walker JH.

J Biol Chem. 2006 Nov 24;281(47):35709-16. Epub 2006 Sep 10.

13.

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.

14.

The expression and function of a group VIA calcium-independent phospholipase A2 (iPLA2beta) in beta-cells.

Turk J, Ramanadham S.

Can J Physiol Pharmacol. 2004 Oct;82(10):824-32. Review.

PMID:
15573142
15.

Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

Hörtnagel K, Nardocci N, Zorzi G, Garavaglia B, Botz E, Meitinger T, Klopstock T.

Neurology. 2004 Sep 14;63(5):922-4.

PMID:
15365152
16.

Male mice that do not express group VIA phospholipase A2 produce spermatozoa with impaired motility and have greatly reduced fertility.

Bao S, Miller DJ, Ma Z, Wohltmann M, Eng G, Ramanadham S, Moley K, Turk J.

J Biol Chem. 2004 Sep 10;279(37):38194-200. Epub 2004 Jul 12.

17.

Seitelberger's spastic amaurotic axonal idiocy. Report of a case in a 9-year-old boy with comment on visceral manifestations.

NAKAI H, LANDING BH, SCHUBERT WK.

Pediatrics. 1960 Mar;25:441-9. No abstract available.

PMID:
14425883
18.

INFANTILE NEUROAXONAL DYSTROPHY.

SANDBANK U.

Arch Neurol. 1965 Feb;12:155-9. No abstract available.

PMID:
14237772
19.

Infantile neuroaxonal dystrophy.

COWEN D, OLMSTEAD EV.

J Neuropathol Exp Neurol. 1963 Apr;22:175-236. No abstract available.

PMID:
14023529
20.

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum.

Mubaidin A, Roberts E, Hampshire D, Dehyyat M, Shurbaji A, Mubaidien M, Jamil A, Al-Din A, Kurdi A, Woods CG.

J Med Genet. 2003 Jul;40(7):543-6. No abstract available.

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