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Page 1
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
Hully M, Ropars J, Hubert L, Boddaert N, Rio M, Bernardelli M, Desguerre I, Cormier-Daire V, Munnich A, de Lonlay P, Reilly L, Besmond C, Bahi-Buisson N. Hully M, et al. Among authors: de lonlay p. Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10. Neurogenetics. 2017. PMID: 27726050
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: de lonlay p. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398
Antenatal manifestations of mitochondrial respiratory chain deficiency.
von Kleist-Retzow JC, Cormier-Daire V, Viot G, Goldenberg A, Mardach B, Amiel J, Saada P, Dumez Y, Brunelle F, Saudubray JM, Chrétien D, Rötig A, Rustin P, Munnich A, De Lonlay P. von Kleist-Retzow JC, et al. Among authors: de lonlay p. J Pediatr. 2003 Aug;143(2):208-12. doi: 10.1067/S0022-3476(03)00130-6. J Pediatr. 2003. PMID: 12970634
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
Goldenberg A, Ngoc LH, Thouret MC, Cormier-Daire V, Gagnadoux MF, Chrétien D, Lefrançois C, Geromel V, Rötig A, Rustin P, Munnich A, Paquis V, Antignac C, Gubler MC, Niaudet P, de Lonlay P, Bérard E. Goldenberg A, et al. Among authors: de lonlay p. Pediatr Nephrol. 2005 Apr;20(4):465-9. doi: 10.1007/s00467-004-1725-4. Epub 2005 Jan 29. Pediatr Nephrol. 2005. PMID: 15682315
Respiratory chain defects may present only with hypoglycemia.
Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700
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.
Epilepsy in Menkes disease: analysis of clinical stages.
Bahi-Buisson N, Kaminska A, Nabbout R, Barnerias C, Desguerre I, De Lonlay P, Mayer M, Plouin P, Dulac O, Chiron C. Bahi-Buisson N, et al. Among authors: de lonlay p. Epilepsia. 2006 Feb;47(2):380-6. doi: 10.1111/j.1528-1167.2006.00432.x. Epilepsia. 2006. PMID: 16499764 Free article.
357 results