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Page 1
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN. Bahout M, et al. Among authors: pereon y. J Neurol Neurosurg Psychiatry. 2024 Oct 24:jnnp-2024-334263. doi: 10.1136/jnnp-2024-334263. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39448255 Free 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. 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.
Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).
Adams D, Cintas P, Solé G, Tard C, Labeyrie C, Echaniz-Laguna A, Cauquil C, Pereon Y, Magy L, Morales RJ, Antoine JC, Lagrange E, Petiot P, Mallaret M, Francou B, Guiochon-Mantel A, Coste A, Demarcq O, Geffroy C, Famelart V, Rudant J, Bartoli M, Donal E, Lairez O, Eicher JC, Kharoubi M, Oghina S, Trochu JN, Inamo J, Habib G, Roubille F, Hagège A, Morio F, Cariou E, Adda J, Slama MS, Charron P, Algalarrondo V, Damy T, Attarian S. Adams D, et al. Among authors: pereon y. Rev Neurol (Paris). 2024 Sep;180(7):661-672. doi: 10.1016/j.neurol.2024.02.393. Epub 2024 Apr 19. Rev Neurol (Paris). 2024. PMID: 38643028
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Among authors: pereon y. Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 Free PMC article.
Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.
Coly M, Adams D, Attarian S, Bouhour F, Camdessanché JP, Carey G, Cauquil C, Chanson JB, Chrétien P, Créange A, Delmont E, Fargeot G, Frachet S, Gendre T, Kuntzer T, Labeyrie C, Maisonobe T, Michaud M, Moulin M, Nicolas G, Noury JB, Péréon Y, Puma A, Sole G, Taithe F, Tard C, Théaudin M, Timsit S, Venditti L, Echaniz-Laguna A. Coly M, et al. Among authors: pereon y. J Neurol. 2024 Aug;271(8):4982-4990. doi: 10.1007/s00415-024-12410-4. Epub 2024 May 20. J Neurol. 2024. PMID: 38767661
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Barbat du Closel L, Bonello-Palot N, Delmont E, Péréon Y, Echaniz-Laguna A, Camdessanché JP, Pakleza AN, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Louis SL, Tard C, Solé G, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S. Barbat du Closel L, et al. Among authors: pereon y. Eur J Neurol. 2025 Jan;32(1):e16523. doi: 10.1111/ene.16523. Epub 2024 Nov 21. Eur J Neurol. 2025. PMID: 39569692 Free PMC article.
Spinal muscular atrophy is also a disorder of spermatogenesis.
Magot A, Reignier A, Binois O, Bedat-Millet AL, Davion JB, Debergé L, Ghorab K, Guyant L, Laheranne É, Laforet P, Lefeuvre C, Mallaret M, Michaud M, Omar C, Nadaj-Pakleza A, Nicolas G, Noury JB, Pegat A, Péré M, Salort-Campana E, Sole G, Spinazzi M, Tard C, Vuillerot C, Péréon Y. Magot A, et al. Among authors: pereon y. Orphanet J Rare Dis. 2024 Dec 20;19(1):476. doi: 10.1186/s13023-024-03494-2. Orphanet J Rare Dis. 2024. PMID: 39707482 Free PMC article.
Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
Attarian S, Young P, Brannagan TH, Adams D, Van Damme P, Thomas FP, Casanovas C, Kafaie J, Tard C, Walter MC, Péréon Y, Walk D, Stino A, de Visser M, Verhamme C, Amato A, Carter G, Magy L, Statland JM, Felice K. Attarian S, et al. Among authors: pereon y. Orphanet J Rare Dis. 2024 Apr 1;19(1):142. doi: 10.1186/s13023-024-03110-3. Orphanet J Rare Dis. 2024. PMID: 38561848 Free PMC article. No abstract available.
253 results