| 1 | C19orf12, COASY, NBIA2, NBIA4, NBIA6, PANK2, PKAN, PLA2G6
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| Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.
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| Aoun M, Tiranti V.
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| Int J Biochem Cell Biol 63:25-31. doi: 10.1016/j.biocel.2015.01.018. Review.
2015
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| 2 | C19orf12, NBIA4
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| New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
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| 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.
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| Neurology 80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26. 2013
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| 3 | C19orf12, NBIA4
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| A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.
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| Schottmann G, Stenzel W, Lützkendorf S, Schuelke M, Knierim E.
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| Clin Genet lin Genet. 2013 Mar 25. doi: 10.1111/cge.12137. [Epub ahead of print] No abstract available. 2013
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| 4 | C19orf12, NBIA4
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| Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
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| Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, Hogarth P, Hayflick SJ.
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| Mov Disord ov Disord. 2013 Mar 13. doi: 10.1002/mds.25410. [Epub ahead of print] No abstract available. 2013
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| 5 | C19orf12, NBIA4, PANK2, PKAN
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| PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
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| Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E.
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| Mov Disord 28(2):228-32. doi: 10.1002/mds.25271.
2013
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| 6 | C19orf12, NBIA4
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| C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
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| Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, Haack TB.
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| J Neurol 259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15. 2012
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| 7 | C19orf12, NBIA4
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| Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
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| 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.
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| Am J Hum Genet 89(4):543-50. 2011
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