| 1 | C19orf12, COASY, NBIA2, NBIA4, NBIA6, PANK2, PKAN, PLA2G6 |
| Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases. | |
| Aoun M, Tiranti V. | |
| Int J Biochem Cell Biol 63:25-31. doi: 10.1016/j.biocel.2015.01.018. Review. 2015 | |
| 2 | C19orf12, NBIA4 |
| 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 80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26. 2013 | |
| 3 | C19orf12, NBIA4 |
| A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. | |
| Schottmann G, Stenzel W, Lützkendorf S, Schuelke M, Knierim E. | |
| Clin Genet lin Genet. 2013 Mar 25. doi: 10.1111/cge.12137. [Epub ahead of print] No abstract available. 2013 | |
| 4 | C19orf12, NBIA4 |
| Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. | |
| Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, Hogarth P, Hayflick SJ. | |
| Mov Disord ov Disord. 2013 Mar 13. doi: 10.1002/mds.25410. [Epub ahead of print] No abstract available. 2013 | |
| 5 | C19orf12, SPG43 |
| 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 M, Speziani F, Dürr A, Stevanin G, Biesecker LG; for the 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 | |
| 6 | C19orf12, NBIA4, PANK2, PKAN |
| 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 28(2):228-32. doi: 10.1002/mds.25271. 2013 | |
| 7 | C19orf12, NBIA4 |
| 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 259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15. 2012 | |
| 8 | C19orf12, NBIA4 |
| 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 89(4):543-50. 2011 | |
| 9 | ABCA11P, ABHD6, ABHD8, ACBD4, AKD1, AMER3, ANKRD13B, ANKRD39, ANKRD53, ANKRD55, ANTXRL, ANXA8L2, ARMCX4, ASTN1, BORCS6, BTNL8, C10orf140, C10orf53, C10orf68, C10orf72, C10orf76, C11orf65, C12orf41, C12orf42, C12orf59, C12orf63, C13orf23, C14orf132, C14orf166B, C15orf38, C15orf39, C15orf41, C15orf52, C16orf10, C16orf54, C17orf62, C17orf63, C17orf85, C18orf19, C19orf12, C19orf34, C19orf44, C19orf45, C19orf54, C19orf55, C19orf60, C1orf128, C1orf129, C1orf198, C1orf50, C1orf94, C20orf82, C22orf15, C22orf26, C22orf30, C2CD3, C2orf3, C2orf34, C2orf53, C2orf63, C4orf19, C5orf22, C5orf24, C6orf35, C8orf33, C8orf73, C9orf100, C9orf131, C9orf50, C9orf68, CCDC122, CCDC144C, CCDC146, CCDC40, CCDC71, CCDC77, CCDC96, CCM2L, CD97, CDH6, CEP120, CFAP43, CFAP47, COL11A2, COL9A1, CXorf57, DDTL, DDX60L, DDX60L, DFNB53, DHODH, DNAJB14, DQX1, ECT2L, EFCAB5, ERCC6L2, EXOC3L, FAAH2, FAM110A, FAM136A, FAM153B, FAM160A2, FAM200B, FAM47C, FAM63B, FAM86B1, FASTKD1, FDX1L, FOCAD, FOXRED2, GIN1, GSG1L, HERPUD2, IFITM4P, JMJD7, KCTD4, KIAA1310, KIAA1614, KLHL25, LACC1, LARP4, LRRC27, LRRC31, MACROD2, PCMTD2, RABGGTA, SHOC1, SLC3A2, SLC52A3, SMYD4, TBC1D20, TMEM100, TTI2, ZC3H6, ZNF250, ZNF252, ZNF385B, ZNF491, ZNF493, ZNF506, ZNF517, ZNF525, ZNF529, ZNF568, ZNF611, ZNF614, ZNF616, ZNF621, ZNF624, ZNF627, ZNF630, ZNF721, ZSCAN18, ZSCAN29 |
| Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S. | |
| Genome Res 16(1):55-65. Epub 2005 Dec 12. 2006 | |