PubMed (Bookshelf cited) for id: 82852

Year	Number of Results
1983	1
1989	1
1996	1
1998	1
1999	3
2001	1
2003	2
2005	2
2006	1
2007	2
2008	4
2009	2
2010	13
2011	4
2012	5
2013	3
2014	6
2015	7
2016	5
2017	2
2019	1
2023	0

1

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ. Gregory A, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00736. doi: 10.1002/mgg3.736. Epub 2019 May 13. Mol Genet Genomic Med. 2019. PMID: 31087512 Free PMC article.

2

Atypical PLA2G6-Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation.

Cif L, Kurian MA, Gonzalez V, Garcia-Ptacek S, Roujeau T, Gelisse P, Moura de Ribeiro AM, Crespel A, MacPherson L, Coubes P. Cif L, et al. Mov Disord Clin Pract. 2014 May 23;1(2):128-131. doi: 10.1002/mdc3.12030. eCollection 2014 Jun. Mov Disord Clin Pract. 2014. PMID: 30363890 Free PMC article. No abstract available.

3

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, Granzow M, Paramasivam N, Eils R, Diessl N, Bartram CR, Moog U. Evers C, et al. Am J Med Genet A. 2017 Jul;173(7):1878-1886. doi: 10.1002/ajmg.a.38252. Epub 2017 May 10. Am J Med Genet A. 2017. PMID: 28489334

4

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

Hogarth P, Kurian MA, Gregory A, Csányi B, Zagustin T, Kmiec T, Wood P, Klucken A, Scalise N, Sofia F, Klopstock T, Zorzi G, Nardocci N, Hayflick SJ. Hogarth P, et al. Mol Genet Metab. 2017 Mar;120(3):278-287. doi: 10.1016/j.ymgme.2016.11.004. Epub 2016 Dec 27. Mol Genet Metab. 2017. PMID: 28034613 No abstract available.

5

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, Banwell BL, Chitayat D, Blaser SI. Al-Maawali A, et al. Neuroradiology. 2016 Oct;58(10):1035-1042. doi: 10.1007/s00234-016-1726-6. Epub 2016 Aug 11. Neuroradiology. 2016. PMID: 27516098

6

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.

Yamamoto T, Shimojima K, Shibata T, Akiyama M, Oka M, Akiyama T, Yoshinaga H, Kobayashi K. Yamamoto T, et al. Hum Genome Var. 2015 Nov 19;2:15048. doi: 10.1038/hgv.2015.48. eCollection 2015. Hum Genome Var. 2015. PMID: 27081553 Free PMC article.

7

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.

Kraoua I, Romani M, Tonduti D, BenRhouma H, Zorzi G, Zibordi F, Ardissone A, Gouider-Khouja N, Ben Youssef-Turki I, Nardocci N, Valente EM. Kraoua I, et al. Eur J Neurol. 2016 Apr;23(4):e24-5. doi: 10.1111/ene.12927. Eur J Neurol. 2016. PMID: 27000981 No abstract available.

8

Timing, rates and spectra of human germline mutation.

Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.

9

Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC. Zarate YA, et al. Eur J Hum Genet. 2016 Jul;24(7):1080-3. doi: 10.1038/ejhg.2015.242. Epub 2015 Nov 18. Eur J Hum Genet. 2016. PMID: 26577041 Free PMC article.

10

PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

Karkheiran S, Shahidi GA, Walker RH, Paisán-Ruiz C. Karkheiran S, et al. Tremor Other Hyperkinet Mov (N Y). 2015 Jul 10;5:317. doi: 10.7916/D84Q7T4W. eCollection 2015. Tremor Other Hyperkinet Mov (N Y). 2015. PMID: 26196026 Free PMC article.

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