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Results: 1 to 20 of 31

Select item 229031851.

Neuronal phospholipid deacylation is essential for axonal and synaptic integrity.

Glynn P.

Biochim Biophys Acta. 2013 Mar;1831(3):633-41. doi: 10.1016/j.bbalip.2012.07.023. Epub 2012 Aug 7. Review.

PMID:: 22903185; [PubMed - indexed for MEDLINE]

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Select item 225157432.

PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation.

McNeill A.

Curr Drug Targets. 2012 Aug;13(9):1204-6. Review.

PMID:: 22515743; [PubMed - indexed for MEDLINE]

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Select item 224422043.

Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6.

Strokin M, Seburn KL, Cox GA, Martens KA, Reiser G.

Hum Mol Genet. 2012 Jun 15;21(12):2807-14. doi: 10.1093/hmg/dds108. Epub 2012 Mar 22.

PMID:: 22442204; [PubMed - indexed for MEDLINE]

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Select item 224050874.

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O.

Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009.

PMID:: 22405087; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 223492675.

Disturbed brain phospholipid and docosahexaenoic acid metabolism in calcium-independent phospholipase A(2)-VIA (iPLA(2)β)-knockout mice.

Cheon Y, Kim HW, Igarashi M, Modi HR, Chang L, Ma K, Greenstein D, Wohltmann M, Turk J, Rapoport SI, Taha AY.

Biochim Biophys Acta. 2012 Sep;1821(9):1278-86. doi: 10.1016/j.bbalip.2012.02.003. Epub 2012 Feb 10.

PMID:: 22349267; [PubMed - indexed for MEDLINE]

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Select item 219259116.

A novel type of familial proximal axonal dystrophy: three cases and a review of the axonal dystrophies.

Carpenter S, Soares H, Brandão O, Souto Moura C, Castro L, Rodrigues E, Cunha AL, Bartosch C.

Eur J Paediatr Neurol. 2012 May;16(3):292-300. doi: 10.1016/j.ejpn.2011.08.010. Epub 2011 Sep 16. Review.

PMID:: 21925911; [PubMed - indexed for MEDLINE]

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Select item 214965767.

Neurodegeneration with brain iron accumulation.

McNeill A, Chinnery PF.

Handb Clin Neurol. 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4. Review.

PMID:: 21496576; [PubMed - indexed for MEDLINE]

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Select item 209380278.

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; [PubMed - indexed for MEDLINE]

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Select item 208861099.

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.

Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT.

PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897.

PMID:: 20886109; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2081317010.

Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy.

Polster B, Crosier M, Lindsay S, Hayflick S.

Brain Res Bull. 2010 Nov 20;83(6):374-9. doi: 10.1016/j.brainresbull.2010.08.011. Epub 2010 Sep 9.

PMID:: 20813170; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2065303311.

Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia.

Fyfe JC, Al-Tamimi RA, Castellani RJ, Rosenstein D, Goldowitz D, Henthorn PS.

J Comp Neurol. 2010 Sep 15;518(18):3771-84. doi: 10.1002/cne.22423.

PMID:: 20653033; [PubMed - indexed for MEDLINE]

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Select item 2061950312.

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.

Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H.

Neurobiol Aging. 2012 Apr;33(4):814-23. doi: 10.1016/j.neurobiolaging.2010.05.009. Epub 2010 Jul 21.

PMID:: 20619503; [PubMed - indexed for MEDLINE]

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Select item 2058403113.

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; [PubMed - indexed for MEDLINE]

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Select item 2023585414.

Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation.

Rakheja D, Uddin N, Mitui M, Cope-Yokoyama S, Hogan RN, Burns DK.

Pediatr Dev Pathol. 2010 Nov-Dec;13(6):492-6. doi: 10.2350/10-01-0782-CR.1. Epub 2010 Mar 17.

PMID:: 20235854; [PubMed - indexed for MEDLINE]

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Select item 2022670415.

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

Crompton D, Rehal PK, MacPherson L, Foster K, Lunt P, Hughes I, Brady AF, Pike MG, De Gressi S, Morgan NV, Hardy C, Smith M, MacDonald F, Maher ER, Kurian MA.

Mol Genet Metab. 2010 Jun;100(2):207-12. doi: 10.1016/j.ymgme.2010.02.009. Epub 2010 Feb 16.

PMID:: 20226704; [PubMed - indexed for MEDLINE]

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Select item 1913833416.

Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

Wu Y, Jiang Y, Gao Z, Wang J, Yuan Y, Xiong H, Chang X, Bao X, Zhang Y, Xiao J, Wu X.

Eur J Neurol. 2009 Feb;16(2):240-5. doi: 10.1111/j.1468-1331.2008.02397.x. Epub 2008 Dec 9.

PMID:: 19138334; [PubMed - indexed for MEDLINE]

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Select item 1908715617.

R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.

Sina F, Shojaee S, Elahi E, Paisán-Ruiz C.

Eur J Neurol. 2009 Jan;16(1):101-4. doi: 10.1111/j.1468-1331.2008.02356.x.

PMID:: 19087156; [PubMed - indexed for MEDLINE]

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Select item 1898103518.

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.

PMID:: 18981035; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1879978319.

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.

PMID:: 18799783; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1857030320.

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; [PubMed - indexed for MEDLINE]

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9 free full-text articles in PubMed Central

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. [Am J Hum Genet. 2012]
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, et al. Am J Hum Genet. 2012 Mar 9; 90(3):518-23.
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. [PLoS One. 2010]
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.
Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT. PLoS One. 2010 Sep 23; 5(9):e12897. Epub 2010 Sep 23.
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. [Brain Res Bull. 2010]
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy.
Polster B, Crosier M, Lindsay S, Hayflick S. Brain Res Bull. 2010 Nov 20; 83(6):374-9. Epub 2010 Sep 9.

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