PubMed

Torraco A, Verrigni D, Rizza T, Meschini MC, Vazquez-Memije ME, Martinelli D, Bianchi M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R.

Neurogenetics. 2012 Nov;13(4):375-86. doi: 10.1007/s10048-012-0343-8. Epub 2012 Sep 18.

Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP.

Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325.

Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU.

Gene. 2012 May 10;499(1):209-12. doi: 10.1016/j.gene.2012.02.034. Epub 2012 Mar 3.

Momoi N, Chang B, Takeda I, Aoyagi Y, Endo K, Ichida F.

Eur J Pediatr. 2012 Mar;171(3):515-20. doi: 10.1007/s00431-011-1597-0. Epub 2011 Oct 7.

Mercimek-Mahmutoglu S, Tucker T, Casey B.

Mol Genet Metab. 2011 Nov;104(3):410-3. doi: 10.1016/j.ymgme.2011.07.021. Epub 2011 Jul 26.

Tort F, Del Toro M, Lissens W, Montoya J, Fernàndez-Burriel M, Font A, Buján N, Navarro-Sastre A, López-Gallardo E, Arranz JA, Riudor E, Briones P, Ribes A.

Clin Genet. 2011 Sep;80(3):297-300. doi: 10.1111/j.1399-0004.2011.01650.x. No abstract available.

Schiff M, Benoist JF, Aïssaoui S, Boespflug-Tanguy O, Mouren MC, de Baulny HO, Delorme R.

PLoS One. 2011;6(7):e21932. doi: 10.1371/journal.pone.0021932. Epub 2011 Jul 7. Erratum in: PLoS One. 2011;6(8). doi:10.1371/annotation/456e2365-a067-4063-b11b-6a2abeba3f20. Boepsflug-Tanguy, Odile [corrected to Boespflug-Tanguy, Odile].

Wortmann SB, Morava E.

Clin Dysmorphol. 2011 Jul;20(3):168-9. doi: 10.1097/MCD.0b013e328345bea8. No abstract available.

Karkucinska-Wieckowska A, Lebiedzinska M, Jurkiewicz E, Pajdowska M, Trubicka J, Szymanska-Debinska T, Suski J, Pinton P, Duszynski J, Pronicki M, Wieckowski MR, Pronicka E.

Folia Neuropathol. 2011;49(1):56-63.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I.

J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8.

Ribeiro CA, Hickmann FH, Wajner M.

Int J Dev Neurosci. 2011 Feb;29(1):1-7. doi: 10.1016/j.ijdevneu.2010.10.007. Epub 2010 Nov 2.

Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH.

Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30.

Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E.

J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. Review.

Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA.

Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a.

Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. Epub 2010 Jul 24.

Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, Pecinová A, Nusková H, Koch J, Sperl W, Houstek J.

Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y.

Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.

Houstek J, Kmoch S, Zeman J.

Biochim Biophys Acta. 2009 May;1787(5):529-32. doi: 10.1016/j.bbabio.2008.11.013. Epub 2008 Dec 6.

Sweeney RT, Davis GJ, Noonan JA.

Congenit Heart Dis. 2008 Nov-Dec;3(6):443-8. doi: 10.1111/j.1747-0803.2008.00226.x.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E.

Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16.