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Items: 1 to 20 of 147

1.

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.

2.

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.

3.

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
4.

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
5.

Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.

Zhang P, Gao Z, Jiang Y, Wang J, Zhang F, Wang S, Yang Y, Xiong H, Zhang Y, Bao X, Xiao J, Wu X, Wu Y.

Eur J Neurol. 2013 Feb;20(2):322-30. doi: 10.1111/j.1468-1331.2012.03856.x. Epub 2012 Aug 31.

PMID:
22934738
6.

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.

7.

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.

McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, Shang H, Miyajima H, Chinnery PF.

Neurology. 2008 Apr 29;70(18):1614-9. doi: 10.1212/01.wnl.0000310985.40011.d6.

8.

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

Illingworth MA, Meyer E, Chong WK, Manzur AY, Carr LJ, Younis R, Hardy C, McDonald F, Childs AM, Stewart B, Warren D, Kneen R, King MD, Hayflick SJ, Kurian MA.

Mol Genet Metab. 2014 Jun;112(2):183-9. doi: 10.1016/j.ymgme.2014.03.008. Epub 2014 Mar 29.

9.

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.

10.

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.

11.

Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site.

Riku Y, Ikeuchi T, Yoshino H, Mimuro M, Mano K, Goto Y, Hattori N, Sobue G, Yoshida M.

Acta Neuropathol Commun. 2013 May 9;1:12. doi: 10.1186/2051-5960-1-12.

12.

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
13.

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
14.

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
15.

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S.

J Neurol Sci. 2015 Feb 15;349(1-2):105-9. doi: 10.1016/j.jns.2014.12.036. Epub 2015 Jan 3.

PMID:
25592411
16.

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
17.

Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N.

Eur J Neurol. 2015 Jan;22(1):178-86. doi: 10.1111/ene.12552. Epub 2014 Aug 27.

PMID:
25164370
18.

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.

19.

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
20.

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ.

Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26.

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