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Page 1
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: de lonlay p. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Among authors: de lonlay p. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
Unusual magnetic resonance imaging features in Menkes disease.
Barnerias C, Boddaert N, Guiraud P, Desguerre I, Hertz Pannier L, Dulac O, de Lonlay P, Bahi Buisson N. Barnerias C, et al. Among authors: de lonlay p. Brain Dev. 2008 Aug;30(7):489-92. doi: 10.1016/j.braindev.2007.12.014. Epub 2008 Feb 19. Brain Dev. 2008. PMID: 18243619
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A. Mollet J, et al. Among authors: de lonlay p, de baulny ho. Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022. Am J Hum Genet. 2008. PMID: 18319072 Free PMC article.
Epileptic phenotypes in children with respiratory chain disorders.
El Sabbagh S, Lebre AS, Bahi-Buisson N, Delonlay P, Soufflet C, Boddaert N, Rio M, Rötig A, Dulac O, Munnich A, Desguerre I. El Sabbagh S, et al. Epilepsia. 2010 Jul;51(7):1225-35. doi: 10.1111/j.1528-1167.2009.02504.x. Epub 2010 Feb 19. Epilepsia. 2010. PMID: 20196775 Free article.
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group; Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Sloan JL, et al. Among authors: de lonlay p. Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908. Nat Genet. 2011. PMID: 21841779 Free PMC article.
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, Rötig A, Desguerre I, Tranchant C, Koenig M, Anheim M. Mignot C, et al. Among authors: de lonlay p. Orphanet J Rare Dis. 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173. Orphanet J Rare Dis. 2013. PMID: 24164873 Free PMC article.
Inborn errors of metabolism underlying primary immunodeficiencies.
Parvaneh N, Quartier P, Rostami P, Casanova JL, de Lonlay P. Parvaneh N, et al. Among authors: de lonlay p. J Clin Immunol. 2014 Oct;34(7):753-71. doi: 10.1007/s10875-014-0076-6. Epub 2014 Aug 1. J Clin Immunol. 2014. PMID: 25081841 Review.
357 results