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Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Lefeuvre C, Schaeffer S, Carlier RY, Fournier M, Chapon F, Biancalana V, Nicolas G, Malfatti E, Laforêt P. Lefeuvre C, et al. Mol Genet Metab Rep. 2020 May 24;24:100597. doi: 10.1016/j.ymgmr.2020.100597. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32477874 Free PMC article.
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
Vázquez J, Lefeuvre C, Escobar RE, Luna Angulo AB, Miranda Duarte A, Delia Hernandez A, Brisset M, Carlier RY, Leturcq F, Durand-Canard MC, Nicolas G, Laforet P, Malfatti E. Vázquez J, et al. Among authors: lefeuvre c. J Neuromuscul Dis. 2020;7(4):443-451. doi: 10.3233/JND-200515. J Neuromuscul Dis. 2020. PMID: 32925086
Macroglossia: A potentially severe complication of late-onset Pompe disease.
Dupé C, Lefeuvre C, Solé G, Behin A, Pottier C, Duval F, Carlier RY, Prigent H, Lacau St Guily J, Arrassi A, Taouagh N, Hamroun D, Nicolas G, Laforêt P. Dupé C, et al. Among authors: lefeuvre c. Eur J Neurol. 2022 Jul;29(7):2121-2128. doi: 10.1111/ene.15330. Epub 2022 Apr 1. Eur J Neurol. 2022. PMID: 35302691
Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy.
Chitimus DM, Berling E, Garderet L, Venturelli N, Malfatti E, Authier FJ, Nicolas G, Laforêt P, Lefeuvre C. Chitimus DM, et al. Among authors: lefeuvre c. Eur J Neurol. 2023 Mar;30(3):745-748. doi: 10.1111/ene.15640. Epub 2022 Nov 28. Eur J Neurol. 2023. PMID: 36403110 Free PMC article.
Effect of Intensity of Home Noninvasive Ventilation in Individuals With Neuromuscular and Chest Wall Disorders: A Systematic Review and Meta-Analysis of Individual Participant Data.
Delorme M, Leotard A, Lebret M, Lefeuvre C, Hazenberg A, Pallero M, Nickol AH, Hannan LM, Boentert M, Yüksel A, Windisch W, Howard ME, Hart N, Wijkstra PJ, Prigent H, Pepin JL, Lofaso F, Khouri C, Borel JC. Delorme M, et al. Among authors: lefeuvre c. Arch Bronconeumol. 2023 Aug;59(8):488-496. doi: 10.1016/j.arbres.2023.05.002. Epub 2023 May 11. Arch Bronconeumol. 2023. PMID: 37217384 English, Spanish.
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 Free PMC article.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Salort-Campana E, Solé G, Magot A, Tard C, Noury JB, Behin A, De La Cruz E, Boyer F, Lefeuvre C, Masingue M, Debergé L, Finet A, Brison M, Spinazzi M, Pegat A, Sacconi S, Malfatti E, Choumert A, Bellance R, Bedat-Millet AL, Feasson L, Vuillerot C, Jacquin-Piques A, Michaud M, Pereon Y, Stojkovic T, Laforêt P, Attarian S, Cintas P. Salort-Campana E, et al. Among authors: lefeuvre c. Orphanet J Rare Dis. 2024 Jan 24;19(1):24. doi: 10.1186/s13023-023-03008-6. Orphanet J Rare Dis. 2024. PMID: 38268028 Free PMC article.
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Tard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, Lagrange E, Nollet S, Sacconi S, Noury JB, Magot A, Cintas P, Renard D, Deibener-Kaminsky J, Lefeuvre C, Davion JB, Salort-Campana E, Arrassi A, Taouagh N, Spinazzi M; Pompe Study Group; Attarian S, Laforêt P. Tard C, et al. Among authors: lefeuvre c. Eur J Neurol. 2024 Jul;31(7):e16292. doi: 10.1111/ene.16292. Epub 2024 Apr 8. Eur J Neurol. 2024. PMID: 38587143 Free PMC article.
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
Retailleau E, Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Béhin A, Solé G, Noury JB, Sacconi S, Magot A, Pakleza AN, Orlikowski D, Beltran S, Spinazzi M, Cintas P, Fournier M, Bouibede F, Prigent H, Nicolas G, Taouagh N, El Guizani T, Attarian S, Arrassi A, Hamroun D, Laforêt P. Retailleau E, et al. Among authors: lefeuvre c. Eur J Neurol. 2024 Oct;31(10):e16428. doi: 10.1111/ene.16428. Epub 2024 Aug 7. Eur J Neurol. 2024. PMID: 39109844 Free PMC article.
93 results