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Page 1
GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe Epilepsy.
Boileau C, Deforges S, Peret A, Scavarda D, Bartolomei F, Giles A, Partouche N, Gautron J, Viotti J, Janowitz H, Penchet G, Marchal C, Lagarde S, Trebuchon A, Villeneuve N, Rumi J, Marissal T, Khazipov R, Khalilov I, Martineau F, Maréchal M, Lepine A, Milh M, Figarella-Branger D, Dougy E, Tong S, Appay R, Baudouin S, Mercer A, Smith JB, Danos O, Porter R, Mulle C, Crépel V. Boileau C, et al. Ann Neurol. 2023 Oct;94(4):745-761. doi: 10.1002/ana.26723. Epub 2023 Jul 6. Ann Neurol. 2023. PMID: 37341588
A novel AAV9-dual microRNA-vector targeting GRIK2 in the hippocampus as a treatment for mesial temporal lobe epilepsy.
Baudouin SJ, Giles AR, Pearson N, Deforges S, He C, Boileau C, Partouche N, Borta A, Gautron J, Wartel M, Bočkaj I, Scavarda D, Bartolomei F, Penchet G, Aupy J, Sims J, Smith J, Mercer A, Danos O, Mulle C, Crépel V, Porter R. Baudouin SJ, et al. Among authors: boileau c. Mol Ther Methods Clin Dev. 2024 Sep 16;32(4):101342. doi: 10.1016/j.omtm.2024.101342. eCollection 2024 Dec 12. Mol Ther Methods Clin Dev. 2024. PMID: 39429724 Free PMC article.
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Drackley A, Somerville C, Arnaud P, Baudhuin LM, Hanna N, Kluge ML, Kotzer K, Boileau C, Bronicki L, Callewaert B, Cecchi A, Dietz H, Guo D, Harris S, Jarinova O, Lindsay M, Little L, Loeys B, MacCarrick G, Meester J, Milewicz D, Morisaki T, Morisaki H, Murdock D, Renard M, Richer J, Robert L, Ouzounian M, Van Laer L, De Backer J, Muiño-Mosquera L. Drackley A, et al. Among authors: boileau c. Genome Med. 2024 Dec 31;16(1):154. doi: 10.1186/s13073-024-01423-3. Genome Med. 2024. PMID: 39741318 Free PMC article.
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Lim MS, Guo DC, Velasco Torrez W, Lai A, Schweber J, Garg N, Fleischer J, Boileau C, De Backer J, Evangelista A, Jondeau G, Le Goff C, Milleron O, Muiño-Mosquera L, Morris S, Ouzounian M, Cervi E, Marcadier J, Caffarelli A, Shalhub S, Pyeritz R, Yetman A, Milewicz D, Braverman AC. Lim MS, et al. Among authors: boileau c. J Med Genet. 2024 Dec 9:jmg-2024-110251. doi: 10.1136/jmg-2024-110251. Online ahead of print. J Med Genet. 2024. PMID: 39653386
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.
Racine C, Callier P, Touraine R, Vitobello A, Hanna N, Arnaud P, Jondeau G, Boileau C, Thauvin-Robinet C, Creveaux I, Gatinois V, Willems M, Faivre L. Racine C, et al. Among authors: boileau c. Am J Med Genet A. 2024 Nov 25:e63923. doi: 10.1002/ajmg.a.63923. Online ahead of print. Am J Med Genet A. 2024. PMID: 39584374
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y, Ludwig TE, Le Bon H, Strøm TB, Bluteau O, Di-Filippo M, Carrié A, Chtioui H, Béliard S, Marmontel O, Fonteille A, Gebhart M, Peretti N, Moulin P, Ferrières J, Pradignac A, Farnier M, Gallo A, Yelnik C, Blom D, Génin E, Bogsrud MP, Leren TP, Boileau C, Abifadel M, Rabès JP, Varret M. Azar Y, et al. Among authors: boileau c. Atherosclerosis. 2024 Dec;399:118596. doi: 10.1016/j.atherosclerosis.2024.118596. Epub 2024 Sep 13. Atherosclerosis. 2024. PMID: 39500114 Free article.
Comparative Effectiveness of the Bivalent (Original/Omicron BA.4/BA.5) mRNA COVID-19 Vaccines mRNA-1273.222 and BNT162b2 Bivalent in Adults with Underlying Medical Conditions in the United States.
Kopel H, Nguyen VH, Bogdanov A, Winer I, Boileau C, Ducruet T, Zeng N, Winer-Jones JP, Esposito DB, Bausch-Jurken M, Beck E, Bonafede M, Mansi JA. Kopel H, et al. Among authors: boileau c. Vaccines (Basel). 2024 Sep 27;12(10):1107. doi: 10.3390/vaccines12101107. Vaccines (Basel). 2024. PMID: 39460274 Free PMC article.
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *. Asokan KL, et al. J Am Heart Assoc. 2024 Nov 5;13(21):e036274. doi: 10.1161/JAHA.124.036274. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424426 Free article.
Cohort profile: the CARTaGENE Cohort Nutrition Study (Quebec, Canada).
Ho V, Csizmadi I, Boucher BA, McInerney M, Boileau C, Noisel N, Payette Y, Awadalla P, Koushik A. Ho V, et al. Among authors: boileau c. BMJ Open. 2024 Aug 17;14(8):e083425. doi: 10.1136/bmjopen-2023-083425. BMJ Open. 2024. PMID: 39153764 Free PMC article.
361 results