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Results: 1 to 20 of 393

Similar articles for PubMed (Select 18443314)

1.

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
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.

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
4.

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
5.

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
6.

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H.

PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.

7.

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.

8.

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

Carrilho I, Santos M, Guimarães A, Teixeira J, Chorão R, Martins M, Dias C, Gregory A, Westaway S, Nguyen T, Hayflick S, Barbot C.

Eur J Paediatr Neurol. 2008 Nov;12(6):491-500. doi: 10.1016/j.ejpn.2008.01.005. Epub 2008 Mar 21.

PMID:
18359254
9.

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.

10.

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
11.
12.

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
13.

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.

14.

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.

15.

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

Biancheri R, Rossi A, Alpigiani G, Filocamo M, Gandolfo C, Lorini R, Minetti C.

Eur J Paediatr Neurol. 2007 May;11(3):175-7. Epub 2007 Jan 24.

PMID:
17254819
16.

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.

17.

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.

18.

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.

19.

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.

20.

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).

Kurian MA, McNeill A, Lin JP, Maher ER.

Dev Med Child Neurol. 2011 May;53(5):394-404. doi: 10.1111/j.1469-8749.2011.03955.x. Review.

PMID:
21480873
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