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Items: 1 to 20 of 81

1.

Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).

Bower MA, Bushara K, Dempsey MA, Das S, Tuite PJ.

Mov Disord. 2011 Aug 1;26(9):1768-9. doi: 10.1002/mds.23617. Epub 2011 Apr 25. No abstract available.

PMID:
21520282
2.

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
3.

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.

4.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E.

Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.

PMID:
28295203
5.

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
6.

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

Malaguti MC, Melzi V, Di Giacopo R, Monfrini E, Di Biase E, Franco G, Borellini L, Trezzi I, Monzio Compagnoni G, Fortis P, Feraco P, Orrico D, Cucurachi L, Donner D, Rizzuti M, Ronchi D, Bonato S, Bresolin N, Corti S, Comi GP, Di Fonzo A.

Parkinsonism Relat Disord. 2015 Mar;21(3):337-9. doi: 10.1016/j.parkreldis.2015.01.001. Epub 2015 Jan 10. No abstract available.

PMID:
25601130
7.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C.

J Med Genet. 2016 Mar;53(3):180-9. doi: 10.1136/jmedgenet-2015-103338. Epub 2015 Dec 14.

8.

PLA2G6 variant in Parkinson's disease.

Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N.

J Hum Genet. 2011 May;56(5):401-3. doi: 10.1038/jhg.2011.22. Epub 2011 Mar 3.

PMID:
21368765
9.

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
10.

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
11.

Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration.

Xie F, Cen Z, Ouyang Z, Wu S, Xiao J, Luo W.

Parkinsonism Relat Disord. 2015 Apr;21(4):420-2. doi: 10.1016/j.parkreldis.2015.01.012. Epub 2015 Jan 27. No abstract available.

PMID:
25660576
12.

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
13.

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
14.

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C.

Brain Dev. 2017 Feb;39(2):93-100. doi: 10.1016/j.braindev.2016.08.012. Epub 2016 Nov 21. Review.

PMID:
27884548
15.

Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction.

Kinghorn KJ, Castillo-Quan JI, Bartolome F, Angelova PR, Li L, Pope S, Cochemé HM, Khan S, Asghari S, Bhatia KP, Hardy J, Abramov AY, Partridge L.

Brain. 2015 Jul;138(Pt 7):1801-16. doi: 10.1093/brain/awv132. Epub 2015 May 22.

16.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

Br J Ophthalmol. 2014 Jul;98(7):889-93.

PMID:
24522175
17.

Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity.

Kim YJ, Lyoo CH, Hong S, Kim NY, Lee MS.

Parkinsonism Relat Disord. 2015 Apr;21(4):402-6. doi: 10.1016/j.parkreldis.2015.01.010. Epub 2015 Jan 17.

PMID:
25634434
18.

Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation.

Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ.

Mov Disord. 2009 Apr 30;24(6):940-1. doi: 10.1002/mds.22458. No abstract available.

PMID:
19224615
19.

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
20.

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.

Kapoor S, Shah MH, Singh N, Rather MI, Bhat V, Gopinath S, Bindu PS, Taly AB, Sinha S, Nagappa M, Bharath RD, Mahadevan A, Narayanappa G, Chickabasaviah YT, Kumar A.

PLoS One. 2016 May 19;11(5):e0155605. doi: 10.1371/journal.pone.0155605. eCollection 2016.

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