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Page 1
Efficiency of metabolic screening in childhood cardiomyopathies.
Bonnet D, de Lonlay P, Gautier I, Rustin P, Rötig A, Kachaner J, Acar P, LeBidois J, Munnich A, Sidi D. Bonnet D, et al. Among authors: de lonlay p. Eur Heart J. 1998 May;19(5):790-3. doi: 10.1053/euhj.1997.0818. Eur Heart J. 1998. PMID: 9717014
Respiratory chain deficiency in Alpers syndrome.
Gauthier-Villars M, Landrieu P, Cormier-Daire V, Jacquemin E, Chrétien D, Rötig A, Rustin P, Munnich A, de Lonlay P. Gauthier-Villars M, et al. Among authors: de lonlay p. Neuropediatrics. 2001 Jun;32(3):150-2. doi: 10.1055/s-2001-16614. Neuropediatrics. 2001. PMID: 11521212
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. Chol M, et al. Among authors: de lonlay p. J Med Genet. 2003 Mar;40(3):188-91. doi: 10.1136/jmg.40.3.188. J Med Genet. 2003. PMID: 12624137 Free PMC article.
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Lebon S, Chol M, Benit P, Mugnier C, Chretien D, Giurgea I, Kern I, Girardin E, Hertz-Pannier L, de Lonlay P, Rötig A, Rustin P, Munnich A. Lebon S, et al. Among authors: de lonlay p. J Med Genet. 2003 Dec;40(12):896-9. doi: 10.1136/jmg.40.12.896. J Med Genet. 2003. PMID: 14684687 Free PMC article.
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].
Devaux-Bricout M, Grévent D, Lebre AS, Rio M, Desguerre I, De Lonlay P, Valayannopoulos V, Brunelle F, Rötig A, Munnich A, Boddaert N. Devaux-Bricout M, et al. Among authors: de lonlay p. Rev Neurol (Paris). 2014 May;170(5):381-9. doi: 10.1016/j.neurol.2014.03.006. Epub 2014 Apr 24. Rev Neurol (Paris). 2014. PMID: 24768439 Review. French.
365 results