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Page 1
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium; Beldjord C, Chelly J. Bahi-Buisson N, et al. Among authors: elie c. Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. Brain. 2014. PMID: 24860126
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N. Leger PL, et al. Among authors: elie c. Neurogenetics. 2008 Oct;9(4):277-85. doi: 10.1007/s10048-008-0141-5. Epub 2008 Aug 7. Neurogenetics. 2008. PMID: 18685874
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N. Saillour Y, et al. Among authors: elie c. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. Arch Neurol. 2009. PMID: 19667223
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J. Bahi-Buisson N, et al. Among authors: elie c. Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7. Brain. 2010. PMID: 20929962
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium. Bahi-Buisson N, et al. Among authors: elie c. Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. Brain. 2013. PMID: 23365099 Free PMC article.
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.
Beltrand J, Elie C, Busiah K, Fournier E, Boddaert N, Bahi-Buisson N, Vera M, Bui-Quoc E, Ingster-Moati I, Berdugo M, Simon A, Gozalo C, Djerada Z, Flechtner I, Treluyer JM, Scharfmann R, Cavé H, Vaivre-Douret L, Polak M; GlidKir Study Group. Beltrand J, et al. Among authors: elie c. Diabetes Care. 2015 Nov;38(11):2033-41. doi: 10.2337/dc15-0837. Epub 2015 Oct 5. Diabetes Care. 2015. PMID: 26438614 Clinical Trial.
Parkinson disease, brain volumes, and subthalamic nucleus stimulation.
Bonneville F, Welter ML, Elie C, du Montcel ST, Hasboun D, Menuel C, Houeto JL, Bonnet AM, Mesnage V, Pidoux B, Navarro S, Cornu P, Agid Y, Dormont D. Bonneville F, et al. Among authors: elie c. Neurology. 2005 May 10;64(9):1598-604. doi: 10.1212/01.WNL.0000160401.24880.83. Neurology. 2005. PMID: 15883323 Clinical Trial.
Primary pulmonary alveolar proteinosis: computed tomography features at diagnosis.
Berteloot L, Taam RA, Emond-Gonsard S, Mamou-Mani T, Lambot K, Grévent D, Elie C, Le Bourgeois M, Delacourt C, Brunelle F, de Blic J. Berteloot L, et al. Among authors: elie c. Pediatr Radiol. 2014 Jul;44(7):795-802. doi: 10.1007/s00247-014-2888-1. Epub 2014 Mar 6. Pediatr Radiol. 2014. PMID: 24599270
Erratum. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033-2041.
Beltrand J, Elie C, Busiah K, Fournier E, Boddaert N, Bahi-Buisson N, Vera M, Bui-Quoc E, Ingster-Moati I, Berdugo M, Simon A, Gozalo C, Djerada Z, Flechtner I, Treluyer JM, Scharfmann R, Cavé H, Vaivre-Douret L, Polak M; GlidKir Study Group. Beltrand J, et al. Among authors: elie c. Diabetes Care. 2016 Jan;39(1):175. doi: 10.2337/dc16-er01. Diabetes Care. 2016. PMID: 26696658 No abstract available.
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