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Page 1
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.
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.
Domino liver transplantation: the risk of disease recurrence.
Conti F, Mochel F, Calmus Y. Conti F, et al. Among authors: mochel f. Clin Res Hepatol Gastroenterol. 2019 Oct;43(5):510-512. doi: 10.1016/j.clinre.2019.01.004. Epub 2019 Feb 14. Clin Res Hepatol Gastroenterol. 2019. PMID: 30773354 No abstract available.
Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect.
Hainque E, Gras D, Meneret A, Atencio M, Luton MP, Barbier M, Doulazmi M, Habarou F, Ottolenghi C, Roze E, Mochel F. Hainque E, et al. Among authors: mochel f. J Neurol Neurosurg Psychiatry. 2019 Nov;90(11):1291-1293. doi: 10.1136/jnnp-2018-320283. Epub 2019 Apr 4. J Neurol Neurosurg Psychiatry. 2019. PMID: 30948626 Free PMC article. Clinical Trial. No abstract available.
200 results