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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: dorboz i. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Bernard G, et al. Among authors: dorboz i. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.
Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.
Tonduti D, Dorboz I, Renaldo F, Masliah-Planchon J, Elmaleh-Bergès M, Dalens H, Rodriguez D, Boespflug-Tanguy O. Tonduti D, et al. Among authors: dorboz i. Neurology. 2015 May 26;84(21):2195-7. doi: 10.1212/WNL.0000000000001607. Epub 2015 Apr 29. Neurology. 2015. PMID: 25925986 No abstract available.
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E. Tonduti D, et al. Among authors: dorboz i. Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28. Eur J Paediatr Neurol. 2016. PMID: 26643067
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.
Tonduti D, Orcesi S, Jenkinson EM, Dorboz I, Renaldo F, Panteghini C, Rice GI, Henneke M, Livingston JH, Elmaleh M, Burglen L, Willemsen MA, Chiapparini L, Garavaglia B, Rodriguez D, Boespflug-Tanguy O, Moroni I, Crow YJ. Tonduti D, et al. Among authors: dorboz i. Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016.03.009. Epub 2016 Apr 7. Eur J Paediatr Neurol. 2016. PMID: 27091087
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
Harbulot C, Paquay S, Dorboz I, Pichard S, Bourillon A, Benoist JF, Jardel C, Ogier de Baulny H, Boespflug-Tanguy O, Schiff M. Harbulot C, et al. Among authors: dorboz i. Mol Genet Metab Rep. 2016 Mar 10;7:8-10. doi: 10.1016/j.ymgmr.2016.03.001. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27331002 Free PMC article.
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium; McFarland R, Vanderver A. Ulrick N, et al. Among authors: dorboz i. Pediatr Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13. Pediatr Neurol. 2017. PMID: 27843092
42 results