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Items: 1 to 20 of 56

1.

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

Dastsooz H, Nemati H, Fard MAF, Fardaei M, Faghihi MA.

BMC Med Genet. 2017 Aug 18;18(1):87. doi: 10.1186/s12881-017-0439-y.

2.

Oligomeric amyloid-beta induces MAPK-mediated activation of brain cytosolic and calcium-independent phospholipase A2 in a spatial-specific manner.

Palavicini JP, Wang C, Chen L, Hosang K, Wang J, Tomiyama T, Mori H, Han X.

Acta Neuropathol Commun. 2017 Jul 27;5(1):56. doi: 10.1186/s40478-017-0460-6.

3.

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 Mar 13. doi: 10.1111/cge.13008. [Epub ahead of print]

PMID:
28295203
4.

Systematic review of autosomal recessive ataxias and proposal for a classification.

Beaudin M, Klein CJ, Rouleau GA, Dupré N.

Cerebellum Ataxias. 2017 Feb 23;4:3. doi: 10.1186/s40673-017-0061-y. eCollection 2017. Review.

5.

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.

Tsuboi M, Watanabe M, Nibe K, Yoshimi N, Kato A, Sakaguchi M, Yamato O, Tanaka M, Kuwamura M, Kushida K, Ishikura T, Harada T, Chambers JK, Sugano S, Uchida K, Nakayama H.

PLoS One. 2017 Jan 20;12(1):e0169002. doi: 10.1371/journal.pone.0169002. eCollection 2017.

6.

Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review.

Li H, Zou Y, Bao X, Wang H, Wang J, Jin H, Che Y, Tang X.

Exp Ther Med. 2016 Nov;12(5):3387-3389. Epub 2016 Sep 30.

7.

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gore E, Appleby BS, Cohen ML, DeBrosse SD, Leverenz JB, Miller BL, Siedlak SL, Zhu X, Lerner AJ.

Neurocase. 2016 Oct;22(5):476-483. Epub 2016 Nov 1.

PMID:
27801611
8.

Psychomotor Behavior: A Practical Approach in Drosophila.

Iliadi KG, Gluscencova OB, Boulianne GL.

Front Psychiatry. 2016 Aug 31;7:153. doi: 10.3389/fpsyt.2016.00153. eCollection 2016.

9.

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.

10.

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V.

Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9.

11.

Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.

Kinghorn KJ, Castillo-Quan JI.

Rare Dis. 2016 Jan 25;4(1):e1128616. doi: 10.1080/21675511.2015.1128616. eCollection 2016.

12.

High expression of α-synuclein in damaged mitochondria with PLA2G6 dysfunction.

Sumi-Akamaru H, Beck G, Shinzawa K, Kato S, Riku Y, Yoshida M, Fujimura H, Tsujimoto Y, Sakoda S, Mochizuki H.

Acta Neuropathol Commun. 2016 Mar 30;4:27. doi: 10.1186/s40478-016-0298-3.

13.

Two unusual cases of PLA2G6-associated neurodegeneration from India.

Kulkarni SD, Garg M, Sayed R, Patil VA.

Ann Indian Acad Neurol. 2016 Jan-Mar;19(1):115-8. doi: 10.4103/0972-2327.168641.

14.

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.

15.

Deficiency of Calcium-Independent Phospholipase A2 Beta Induces Brain Iron Accumulation through Upregulation of Divalent Metal Transporter 1.

Beck G, Shinzawa K, Hayakawa H, Baba K, Yasuda T, Sumi-Akamaru H, Tsujimoto Y, Mochizuki H.

PLoS One. 2015 Oct 27;10(10):e0141629. doi: 10.1371/journal.pone.0141629. eCollection 2015.

16.

Calcium-independent phospholipases A2 and their roles in biological processes and diseases.

Ramanadham S, Ali T, Ashley JW, Bone RN, Hancock WD, Lei X.

J Lipid Res. 2015 Sep;56(9):1643-68. doi: 10.1194/jlr.R058701. Epub 2015 May 28. Review.

17.

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.

18.

Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.

Arber CE, Li A, Houlden H, Wray S.

Neuropathol Appl Neurobiol. 2016 Apr;42(3):220-41. doi: 10.1111/nan.12242. Epub 2015 Jun 2. Review.

19.

Neurodegeneration with brain iron accumulation: an overview.

Tonekaboni SH, Mollamohammadi M.

Iran J Child Neurol. 2014 Fall;8(4):1-8. Review.

20.

Neurodegeneration with brain iron accumulation: diagnosis and management.

Hogarth P.

J Mov Disord. 2015 Jan;8(1):1-13. doi: 10.14802/jmd.14034. Epub 2015 Jan 13. Review.

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