PubMed

Cantley JL, Yoshimura T, Camporez JP, Zhang D, Jornayvaz FR, Kumashiro N, Guebre-Egziabher F, Jurczak MJ, Kahn M, Guigni BA, Serr J, Hankin J, Murphy RC, Cline GW, Bhanot S, Manchem VP, Brown JM, Samuel VT, Shulman GI.

Proc Natl Acad Sci U S A. 2013 Jan 29;110(5):1869-74. doi: 10.1073/pnas.1219456110. Epub 2013 Jan 9.

Cakmak E, Alagozlu H, Yonem O, Ataseven H, Citli S, Ozer H.

Clin Res Hepatol Gastroenterol. 2012 Apr;36(2):e34-7. doi: 10.1016/j.clinre.2011.12.007. Epub 2012 Jan 13.

Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E.

Clin Exp Dermatol. 2012 Jan;37(1):31-3. doi: 10.1111/j.1365-2230.2011.04164.x. Epub 2011 Oct 10.

Pike GN, Jones S, Coassin S, Kronenberg F, Will A.

Br J Haematol. 2011 Nov;155(4):412. doi: 10.1111/j.1365-2141.2011.08780.x. Epub 2011 Jun 21. No abstract available.

Singh S, Sharma S, Agarwal S, Nangia A, Chander R, Varghese B.

Pediatr Dermatol. 2012 May-Jun;29(3):341-4. doi: 10.1111/j.1525-1470.2011.01429.x. Epub 2011 May 16.

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5.

Samuelov L, Fuchs-Telem D, Sarig O, Sprecher E.

Br J Dermatol. 2011 Jun;164(6):1390-2. doi: 10.1111/j.1365-2133.2011.10252.x. Epub 2011 May 13.

Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D.

Orphanet J Rare Dis. 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33. Erratum in: Orphanet J Rare Dis. 2011 Feb 21;6(1):6.

James CN, Horn PJ, Case CR, Gidda SK, Zhang D, Mullen RT, Dyer JM, Anderson RG, Chapman KD.

Proc Natl Acad Sci U S A. 2010 Oct 12;107(41):17833-8. doi: 10.1073/pnas.0911359107. Epub 2010 Sep 27.

DiMauro S, Garone C, Naini A.

Curr Rheumatol Rep. 2010 Oct;12(5):386-93. doi: 10.1007/s11926-010-0119-9.

Cakir M, Bruno C, Cansu A, Cobanoglu U, Erduran E.

Acta Paediatr. 2010 Oct;99(10):1592-4. doi: 10.1111/j.1651-2227.2010.01869.x.

Akman HO, Davidzon G, Tanji K, Macdermott EJ, Larsen L, Davidson MM, Haller RG, Szczepaniak LS, Lehman TJ, Hirano M, DiMauro S.

Neuromuscul Disord. 2010 Jun;20(6):397-402. doi: 10.1016/j.nmd.2010.04.004. Epub 2010 May 14.

Emre S, Unver N, Evans SE, Yüzbaşioğlu A, Gürakan F, Gümrük F, Karaduman A.

Eur J Med Genet. 2010 May-Jun;53(3):141-4. doi: 10.1016/j.ejmg.2010.03.002. Epub 2010 Mar 20.

Yamaguchi T.

Biol Pharm Bull. 2010;33(3):342-5. Review.

Yang X, Lu X, Liu J.

FEBS Lett. 2010 Mar 5;584(5):903-10. doi: 10.1016/j.febslet.2009.12.058. Epub 2010 Jan 18.

Montero-Moran G, Caviglia JM, McMahon D, Rothenberg A, Subramanian V, Xu Z, Lara-Gonzalez S, Storch J, Carman GM, Brasaemle DL.

J Lipid Res. 2010 Apr;51(4):709-19. doi: 10.1194/jlr.M001917. Epub 2009 Oct 2.

Selimoglu MA, Esrefoglu M, Gul M, Gungor S, Yildirim C, Seyhan M.

Pediatr Dermatol. 2009 Jan-Feb;26(1):40-3. doi: 10.1111/j.1525-1470.2008.00818.x.

Pahwa M, Kar R, Singh A, Goel A, Ramesh V, Jain R.

Int J Dermatol. 2008 Dec;47(12):1257-9. doi: 10.1111/j.1365-4632.2008.03793.x.

Yamaguchi T, Osumi T.

Biochim Biophys Acta. 2009 Jun;1791(6):519-23. doi: 10.1016/j.bbalip.2008.10.012. Epub 2008 Nov 12. Review.

Ronchetti A, Prati D, Pezzotta MG, Tavian D, Colombo R, Callea F, Colli A.

J Hepatol. 2008 Sep;49(3):474-7. doi: 10.1016/j.jhep.2008.05.027. Epub 2008 Jul 9.