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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.
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
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
Anti-pan-neurofascin IgM in COVID-19-related Guillain-Barré syndrome: Evidence for a nodo-paranodopathy.
Tard C, Maurage CA, de Paula AM, Cassim F, Delval A, Kuchcinski G, Davion JB, Defebvre L, Bouchiba M; Intensive Care Unit Medical Group; Jourdain M, Boucraut J. Tard C, et al. Among authors: davion jb. Neurophysiol Clin. 2020 Oct;50(5):397-399. doi: 10.1016/j.neucli.2020.09.007. Epub 2020 Oct 8. Neurophysiol Clin. 2020. PMID: 33190687 Free PMC article. No abstract available.
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.
Doummar D, Treven M, Qebibo L, Devos D, Ghoumid J, Ravelli C, Kranz G, Krenn M, Demailly D, Cif L, Davion JB, Zimprich F, Burglen L, Zech M. Doummar D, et al. Among authors: davion jb. Ann Clin Transl Neurol. 2021 Oct;8(10):1986-1990. doi: 10.1002/acn3.51444. Epub 2021 Aug 20. Ann Clin Transl Neurol. 2021. PMID: 34415117 Free PMC article.
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
32 results