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Page 1
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy.
Guillou J, de Pellegars A, Porcheret F, Frémeaux-Bacchi V, Allain-Launay E, Debord C, Denis M, Péréon Y, Barnérias C, Desguerre I, Roussey G, Mercier S. Guillou J, et al. Among authors: pereon y. Blood Adv. 2022 Jul 26;6(14):4266-4270. doi: 10.1182/bloodadvances.2021006419. Blood Adv. 2022. PMID: 35584395 Free PMC article.
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S. Mercier S, et al. Among authors: pereon y. Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4. Orphanet J Rare Dis. 2015. PMID: 26471370 Free PMC article.
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.
Mercier S, Lornage X, Malfatti E, Marcorelles P, Letournel F, Boscher C, Caillaux G, Magot A, Böhm J, Boland A, Deleuze JF, Romero N, Péréon Y, Laporte J. Mercier S, et al. Among authors: pereon y. Neurology. 2017 Jan 24;88(4):414-416. doi: 10.1212/WNL.0000000000003535. Epub 2016 Dec 21. Neurology. 2017. PMID: 28003497 Free PMC article. No abstract available.
PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.
Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I. Gitiaux C, et al. Among authors: pereon y. Eur J Paediatr Neurol. 2018 Sep;22(5):854-861. doi: 10.1016/j.ejpn.2018.05.005. Epub 2018 May 22. Eur J Paediatr Neurol. 2018. PMID: 29859652
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G. Lagrue E, et al. Among authors: pereon y. Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18. Neurology. 2019. PMID: 30659139
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron … See abstract for full author list ➔ Wahbi K, et al. Among authors: pereon y. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3. Circulation. 2019. PMID: 31155932
253 results