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Items: 1 to 20 of 128

1.

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
2.

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.

3.

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
4.

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.

5.

Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.

Wada H, Yasuda T, Miura I, Watabe K, Sawa C, Kamijuku H, Kojo S, Taniguchi M, Nishino I, Wakana S, Yoshida H, Seino K.

Am J Pathol. 2009 Dec;175(6):2257-63. doi: 10.2353/ajpath.2009.090343. Epub 2009 Nov 5.

6.

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
7.

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.

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.

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
10.

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.

11.

Infantile neuroaxonal dystrophy caused by uniparental disomy.

Solomons J, Ridgway O, Hardy C, Kurian MA, Jayawant S, Hughes S, Pretorius P, Németh AH.

Dev Med Child Neurol. 2014 Apr;56(4):386-9. doi: 10.1111/dmcn.12327. Epub 2013 Nov 15. Erratum in: Dev Med Child Neurol. 2014 Jul;56(7):698. Kurian, Manju [corrected to Kurian, Manju A].

12.

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
13.

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
14.

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.

15.

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.

16.

Mouse models of human INAD by Pla2g6 deficiency.

Wada H, Kojo S, Seino K.

Histol Histopathol. 2013 Aug;28(8):965-9. doi: 10.14670/HH-28.965. Epub 2013 Mar 7. Review.

PMID:
23467909
17.

[A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case].

Wang J, Wu W, Chen X, Zhang L, Wang X, Dong G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):64-7. doi: 10.3760/cma.j.issn.1003-9406.2016.01.016. Chinese.

PMID:
26829737
18.

Neuroaxonal dystrophy in PLA2G6 knockout mice.

Sumi-Akamaru H, Beck G, Kato S, Mochizuki H.

Neuropathology. 2015 Jun;35(3):289-302. doi: 10.1111/neup.12202. Epub 2015 May 6. Review.

PMID:
25950622
19.

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.

Frattini D, Nardocci N, Pascarella R, Panteghini C, Garavaglia B, Fusco C.

Brain Dev. 2015 Feb;37(2):270-2. doi: 10.1016/j.braindev.2014.04.010. Epub 2014 May 5.

PMID:
24800972
20.

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

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