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Page 1
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Among authors: roubertie a. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Roubertie A, Opladen T, Brennenstuhl H, Kuseyri Hübschmann O, Flint L, Willemsen MA, Leuzzi V, Cazorla AG, Kurian MA, François-Heude MC, Hwu P, Zeev BB, Kiening K, Roujeau T, Pons R, Pearson TS. Roubertie A, et al. J Inherit Metab Dis. 2023 Jul 4. doi: 10.1002/jimd.12649. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37402126
Postnatal outcome of children with antenatal colonic hyperechogenicity.
Fuchs F, Rodriguez A, Mousty E, Morin D, Roubertie A, Wells CF, Prodhomme O, Benoist JF, Dreux S, Faure JM, Willems M. Fuchs F, et al. Among authors: roubertie a. Prenat Diagn. 2024 Jan;44(1):28-34. doi: 10.1002/pd.6475. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054546
Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus.
Colmard M, Rivier F, de Barry G, Roubertie A, Urtiaga-Valle S, Mercedes-Alvarez B, Combes C, Cambonie G, Milesi C, Meyer P. Colmard M, et al. Among authors: roubertie a. Dev Med Child Neurol. 2024 Jan 23. doi: 10.1111/dmcn.15859. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 38263722
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Piarroux J, Dimopoulou E, Taieb G, Souvannanorath S, Roze E, Lion-François L, Spitz MA, Broussolle E, Laurencin C, Chanson JB, Belleville-Goffeney J, François-Heude MC, Meyer P, Khalil M, Dereure M, Doummar D, Chevassus H, Apartis E, Roubertie A. Piarroux J, et al. Among authors: roubertie a. Tremor Other Hyperkinet Mov (N Y). 2023 Dec 20;13:46. doi: 10.5334/tohm.803. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 38145278 Free PMC article.
180 results