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Year Number of Results
2016 1
2020 5
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2022 11
2023 8
2024 6

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32 results

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Page 1
Motor neuron pathology in CANVAS due to RFC1 expansions.
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A. Huin V, et al. Among authors: davion jb. Brain. 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. Brain. 2022. PMID: 34927205 Free article.
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Diaz-Manera J, et al. Lancet Neurol. 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. Lancet Neurol. 2021. PMID: 34800399 Clinical Trial.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Kishnani PS, et al. JAMA Neurol. 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. JAMA Neurol. 2023. PMID: 37036722 Free PMC article. Clinical Trial.
RFC1: Motifs and phenotypes.
Delforge V, Tard C, Davion JB, Dujardin K, Wissocq A, Dhaenens CM, Mutez E, Huin V. Delforge V, et al. Among authors: davion jb. Rev Neurol (Paris). 2024 Apr 15:S0035-3787(24)00484-3. doi: 10.1016/j.neurol.2024.03.006. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38627134 Free article. Review.
[Biological markers and metabolic impact of chronic nitrous oxide consumption].
Grzych G, Deheul S, Davion JB, Lemonnier F, Dobbelaere D, Carton L, Kim I, Guichard JC, Girot M, Humbert L, Joly A, Douillard C, Tard C. Grzych G, et al. Among authors: davion jb. Ann Biol Clin (Paris). 2022 Jun 30;80(3):209-212. doi: 10.1684/abc.2022.1729. Ann Biol Clin (Paris). 2022. PMID: 35796471 French. No abstract available.
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Behin A, Sole G, Noury JB, Sacconi S, Magot A, Nadaj-Pakleza A, Lacour A, Beltran S, Spinazzi M, Cintas P, Renard D, Michaud M, Bedat-Millet AL, Prigent H, Taouagh N, Arrassi A, Hamroun D, Attarian S, Laforêt P; for Pompe Study Group. Lefeuvre C, et al. Neurology. 2023 Aug 29;101(9):e966-e977. doi: 10.1212/WNL.0000000000207547. Epub 2023 Jul 7. Neurology. 2023. PMID: 37419682
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy.
Barrois R, Barnerias C, Deladrière E, Leloup-Germa V, Tervil B, Audic F, Boulay C, Cances C, Cintas P, Davion JB, Espil-Taris C, Manel V, Pereon Y, Piarroux J, Quijano Roy S, Vuillerot C, Walther-Louvier U, Desguerre I, Gitiaux C. Barrois R, et al. Among authors: davion jb. Neuromuscul Disord. 2023 Apr;33(4):309-314. doi: 10.1016/j.nmd.2023.02.004. Epub 2023 Feb 11. Neuromuscul Disord. 2023. PMID: 36881951
Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.
Grzych G, Deheul S, Gernez E, Davion JB, Dobbelaere D, Carton L, Kim I, Guichard JC, Girot M, Humbert L, Bennis A, Joncquel M, Chieux V, Joly A, Nasserdine P, Trillot N, Douillard C, Pigny P, Tard C. Grzych G, et al. Among authors: davion jb. J Neurol. 2023 Apr;270(4):2237-2245. doi: 10.1007/s00415-023-11570-z. Epub 2023 Jan 24. J Neurol. 2023. PMID: 36690804
32 results