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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
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.
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. Eur J Neurol. 2022 Jul;29(7):2121-2128. doi: 10.1111/ene.15330. Epub 2022 Apr 1. Eur J Neurol. 2022. PMID: 35302691
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. J Neuromuscul Dis. 2020;7(4):443-451. doi: 10.3233/JND-200515. J Neuromuscul Dis. 2020. PMID: 32925086