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Items: 1 to 20 of 151

1.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H.

Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

2.

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
3.

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Schulte EC, Claussen MC, Jochim A, Haack T, Hartig M, Hempel M, Prokisch H, Haun-Jünger U, Winkelmann J, Hemmer B, Förschler A, Ilg R.

Mov Disord. 2013 Feb;28(2):224-7. doi: 10.1002/mds.25256. Epub 2012 Nov 19.

PMID:
23436634
4.

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.

Gagliardi M, Annesi G, Lesca G, Broussolle E, Iannello G, Vaiti V, Gambardella A, Quattrone A.

Parkinsonism Relat Disord. 2015 Jul;21(7):813-6. doi: 10.1016/j.parkreldis.2015.04.009. Epub 2015 Apr 23.

PMID:
25962551
5.

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

Dogu O, Krebs CE, Kaleagasi H, Demirtas Z, Oksuz N, Walker RH, Paisán-Ruiz C.

Clin Genet. 2013 Oct;84(4):350-5. doi: 10.1111/cge.12079. Epub 2013 Jan 21.

PMID:
23278385
6.

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E.

Mov Disord. 2013 Feb;28(2):228-32. doi: 10.1002/mds.25271. Epub 2012 Nov 19.

PMID:
23166001
7.

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

Hartig M, Prokisch H, Meitinger T, Klopstock T.

Int Rev Neurobiol. 2013;110:73-84. doi: 10.1016/B978-0-12-410502-7.00004-1. Review.

PMID:
24209434
8.

Neurodegeneration with brain iron accumulation.

Dusek P, Schneider SA.

Curr Opin Neurol. 2012 Aug;25(4):499-506. doi: 10.1097/WCO.0b013e3283550cac. Review.

PMID:
22691760
9.

Clinicopathological variability in neurodegeneration with brain iron accumulation.

Vincze A, Kapás I, Molnar MJ, Kovács GG.

Ideggyogy Sz. 2010 Mar 30;63(3-4):129-35.

PMID:
20405671
10.

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.

Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, Hayflick SJ.

Ann N Y Acad Sci. 2004 Mar;1012:282-98.

PMID:
15105273
11.

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ.

Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26.

12.

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T.

Ann Neurol. 2006 Feb;59(2):248-56.

PMID:
16437574
14.

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.

15.

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, Haack TB.

J Neurol. 2012 Nov;259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15.

PMID:
22584950
16.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG.

Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.

17.

Update on neurodegeneration with brain iron accumulation.

Popławska-Domaszewicz K, Florczak-Wyspiańska J, Kozubski W.

Neurol Neurochir Pol. 2014;48(3):206-13. doi: 10.1016/j.pjnns.2014.05.001. Epub 2014 May 17. Review.

PMID:
24981186
18.

Behr syndrome with homozygous C19ORF12 mutation.

Kleffner I, Wessling C, Gess B, Korsukewitz C, Allkemper T, Schirmacher A, Young P, Senderek J, Husstedt IW.

J Neurol Sci. 2015 Oct 15;357(1-2):115-8. doi: 10.1016/j.jns.2015.07.009. Epub 2015 Jul 9.

PMID:
26187298
19.

Syndromes of neurodegeneration with brain iron accumulation.

Schneider SA, Bhatia KP.

Semin Pediatr Neurol. 2012 Jun;19(2):57-66. doi: 10.1016/j.spen.2012.03.005. Review.

PMID:
22704258
20.

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.

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