PubMed

Nayak SS, Adiga PK, Rai L, Girisha KM.

Genet Couns. 2012;23(4):487-91.

Mohamadynejad P, Ghaedi K, Shafeghati Y, Salamian A, Tanhaie S, Karamali F, Rabiee F, Parivar K, Baharvand H, Nasr-Esfahani MH.

Gene. 2013 Apr 15;518(2):461-6. doi: 10.1016/j.gene.2013.01.022. Epub 2013 Jan 26.

Waterham HR, Ebberink MS.

Biochim Biophys Acta. 2012 Sep;1822(9):1430-41. doi: 10.1016/j.bbadis.2012.04.006. Epub 2012 Apr 25. Review.

da Silva TF, Sousa VF, Malheiro AR, Brites P.

Biochim Biophys Acta. 2012 Sep;1822(9):1501-8. doi: 10.1016/j.bbadis.2012.05.014. Epub 2012 May 31. Review.

Braverman NE, Moser AB.

Biochim Biophys Acta. 2012 Sep;1822(9):1442-52. doi: 10.1016/j.bbadis.2012.05.008. Epub 2012 May 22. Review.

Poll-The BT, Gärtner J.

Biochim Biophys Acta. 2012 Sep;1822(9):1421-9. doi: 10.1016/j.bbadis.2012.03.011. Epub 2012 Mar 28. Review.

Poll-The BT, Engelen M.

Semin Neurol. 2012 Feb;32(1):42-50. doi: 10.1055/s-0032-1306385. Epub 2012 Mar 15. Review.

Brodde A, Teigler A, Brugger B, Lehmann WD, Wieland F, Berger J, Just WW.

Hum Mol Genet. 2012 Jun 15;21(12):2713-24. doi: 10.1093/hmg/dds097. Epub 2012 Mar 8.

Nagy K, Brahmbhatt VV, Berdeaux O, Bretillon L, Destaillats F, Acar N.

J Lipid Res. 2012 Apr;53(4):776-83. doi: 10.1194/jlr.D022962. Epub 2012 Jan 19.

Kanzawa N, Shimozawa N, Wanders RJ, Ikeda K, Murakami Y, Waterham HR, Mukai S, Fujita M, Maeda Y, Taguchi R, Fujiki Y, Kinoshita T.

J Lipid Res. 2012 Apr;53(4):653-63. doi: 10.1194/jlr.M021204. Epub 2012 Jan 17.

Oswald G, Lawson C, Raymond G, Golden WC, Braverman N.

Am J Med Genet A. 2011 Dec;155A(12):3160-3. doi: 10.1002/ajmg.a.34331. Epub 2011 Nov 3. No abstract available.

Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N.

Hum Mutat. 2012 Jan;33(1):189-97. doi: 10.1002/humu.21623. Epub 2011 Oct 31.

Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG.

J Cell Biochem. 2011 May;112(5):1250-8. doi: 10.1002/jcb.22979.

Tinnion RJ, Davidson N, Moran P, Wright M, Harigopal S.

BMJ Case Rep. 2011 Jun 19;2011. doi:pii: bcr0120113747. 10.1136/bcr.01.2011.3747. No abstract available.

Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS.

Clin Genet. 2011 Jan;79(1):60-70. doi: 10.1111/j.1399-0004.2010.01498.x.

Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.

Am J Med Genet A. 2010 Jul;152A(7):1812-7. doi: 10.1002/ajmg.a.33489.

Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri RD, Verma IC, Braverman N.

J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717.

Zwijnenburg PJ, Deurloo KL, Waterham HR, Meijers-Heijboer EJ, van Vugt JM, Tan-Sindhunata MB.

Prenat Diagn. 2010 Feb;30(2):162-4. doi: 10.1002/pd.2425. No abstract available.

Steinberg S, Jones R, Tiffany C, Moser A.

Curr Protoc Hum Genet. 2008 Jul;Chapter 17:Unit 17.6. doi: 10.1002/0471142905.hg1706s58.

Goh S.

Pediatr Neurol. 2007 Nov;37(5):382-4.