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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C. Chérot E, et al. Among authors: rodriguez d. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4. Clin Genet. 2018. PMID: 28708303 Free article.
Monoamine neurotransmitters and movement disorders in children and adults.
Doummar D, Moussa F, Nougues MC, Ravelli C, Louha M, Whalen S, Burglen L, Rodriguez D, Billette de Villemeur T. Doummar D, et al. Among authors: rodriguez d. Rev Neurol (Paris). 2018 Nov;174(9):581-588. doi: 10.1016/j.neurol.2018.07.002. Epub 2018 Aug 27. Rev Neurol (Paris). 2018. PMID: 30166070 Review.
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Lebre AS, Rio M, Faivre d'Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N. Lebre AS, et al. Among authors: rodriguez d. J Med Genet. 2011 Jan;48(1):16-23. doi: 10.1136/jmg.2010.079624. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972245
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
Henneke M, Preuss N, Engelbrecht V, Aksu F, Bertini E, Bibat G, Brockmann K, Hübner C, Mayer M, Mejaski-Bosnjak V, Naidu S, Neumaier-Probst E, Rodriguez D, Weisz W, Kohlschütter A, Gärtner J. Henneke M, et al. Among authors: rodriguez d. Neurology. 2005 Apr 26;64(8):1411-6. doi: 10.1212/01.WNL.0000158472.82823.01. Neurology. 2005. PMID: 15851732
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
Passemard S, Gelot A, Fogli A, N'Guyen S, Barnerias C, Niel F, Doummar D, Arbues AS, Mignot C, de Villemeur TB, Ponsot G, Boespflug-Tanguy O, Rodriguez D. Passemard S, et al. Among authors: rodriguez d. Neurology. 2007 Jul 24;69(4):400-2. doi: 10.1212/01.wnl.0000266388.02772.f8. Neurology. 2007. PMID: 17646634 No abstract available.
Pontoneocerebellar hypoplasia: definition of MR features.
Goasdoué P, Rodriguez D, Moutard ML, Robain O, Lalande G, Adamsbaum C. Goasdoué P, et al. Among authors: rodriguez d. Pediatr Radiol. 2001 Sep;31(9):613-8. doi: 10.1007/s002470100507. Pediatr Radiol. 2001. PMID: 11511999
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O. Fogli A, et al. Among authors: rodriguez d. Neurology. 2004 May 11;62(9):1509-17. doi: 10.1212/01.wnl.0000123259.67815.db. Neurology. 2004. PMID: 15136673
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R, Bertini E, Rodriguez D, Vago P, Armour JA, Saugier-Veber P, Frebourg T, Leach RJ, Boespflug-Tanguy O. Vaurs-Barriere C, et al. Among authors: rodriguez d. Ann Hum Genet. 2006 Jan;70(Pt 1):66-77. doi: 10.1111/j.1529-8817.2005.00208.x. Ann Hum Genet. 2006. PMID: 16441258
2,416 results