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A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.
Hainque E, Caillet S, Leroy S, Flamand-Roze C, Adanyeguh I, Charbonnier-Beaupel F, Retail M, Le Toullec B, Atencio M, Rivaud-Péchoux S, Brochard V, Habarou F, Ottolenghi C, Cormier F, Méneret A, Ruiz M, Doulazmi M, Roubergue A, Corvol JC, Vidailhet M, Mochel F, Roze E. Hainque E, et al. Among authors: mochel f. Orphanet J Rare Dis. 2017 Oct 2;12(1):160. doi: 10.1186/s13023-017-0713-2. Orphanet J Rare Dis. 2017. PMID: 28969699 Free PMC article. Clinical Trial.
GLUT1 deficiency syndrome: an update.
Gras D, Roze E, Caillet S, Méneret A, Doummar D, Billette de Villemeur T, Vidailhet M, Mochel F. Gras D, et al. Among authors: mochel f. Rev Neurol (Paris). 2014 Feb;170(2):91-9. doi: 10.1016/j.neurol.2013.09.005. Epub 2013 Nov 20. Rev Neurol (Paris). 2014. PMID: 24269118 Review.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Coutelier M, et al. Among authors: mochel f. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29. Brain. 2015. PMID: 26026163 Free PMC article.
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Héron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E. Mochel F, et al. J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3. J Neurol Neurosurg Psychiatry. 2016. PMID: 26536893 Free PMC article. Clinical Trial.
200 results