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Page 1
Characteristics and outcomes of gemcitabine-associated pulmonary hypertension.
Mouillot P, Favrolt N, Khouri C, Grandvuillemin A, Chaumais MC, Schenesse D, Seferian A, Jais X, Savale L, Beltramo G, Sitbon O, Cracowski JL, Humbert M, Georges M, Bonniaud P, Montani D. Mouillot P, et al. Among authors: seferian a. ERJ Open Res. 2024 May 20;10(3):00654-2023. doi: 10.1183/23120541.00654-2023. eCollection 2024 May. ERJ Open Res. 2024. PMID: 38770007 Free PMC article.
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. Smeets H, et al. Neuromuscul Disord. 2024 Mar;36:16-22. doi: 10.1016/j.nmd.2024.01.001. Epub 2024 Jan 9. Neuromuscul Disord. 2024. PMID: 38306718
Sarcoidosis-Associated Pulmonary Hypertension.
Savale L, Dorfmüller P, Boucly A, Jaïs X, Lacoste-Palasset T, Jevnikar M, Seferian A, Humbert M, Sitbon O, Montani D. Savale L, et al. Among authors: seferian a. Clin Chest Med. 2024 Mar;45(1):185-197. doi: 10.1016/j.ccm.2023.08.007. Epub 2023 Sep 1. Clin Chest Med. 2024. PMID: 38245366 Review.
Outcomes and risk assessment in pulmonary veno-occlusive disease.
Boucly A, Solinas S, Beurnier A, Jaïs X, Keddache S, Eyries M, Seferian A, Jevnikar M, Roche A, Bulifon S, Bourdin A, Chaouat A, Cottin V, Bertoletti L, Savale L, Humbert M, Sitbon O, Montani D. Boucly A, et al. Among authors: seferian a. ERJ Open Res. 2024 Jan 15;10(1):00612-2023. doi: 10.1183/23120541.00612-2023. eCollection 2024 Jan. ERJ Open Res. 2024. PMID: 38226059 Free PMC article.
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy.
Muntoni F, Byrne BJ, McMillan HJ, Ryan MM, Wong BL, Dukart J, Bansal A, Cosson V, Dreghici R, Guridi M, Rabbia M, Staunton H, Tirucherai GS, Yen K, Yuan X, Wagner KR; Taldefgrobep Alfa Study Group. Muntoni F, et al. Neurol Ther. 2024 Feb;13(1):183-219. doi: 10.1007/s40120-023-00570-w. Epub 2024 Jan 8. Neurol Ther. 2024. PMID: 38190001 Free PMC article.
Colony stimulating factor-1 (CSF-1) signalling is predictive of response to immune checkpoint inhibitors in advanced non-small cell lung cancer.
Takam Kamga P, Mayenga M, Sebane L, Costantini A, Julie C, Capron C, Parent F, Seferian A, Guettier C, Emile JF, Giroux Leprieur E. Takam Kamga P, et al. Among authors: seferian a. Lung Cancer. 2024 Feb;188:107447. doi: 10.1016/j.lungcan.2023.107447. Epub 2023 Dec 24. Lung Cancer. 2024. PMID: 38176297 Free article.
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV, Bauché S, Pérez-Guàrdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, Böhm J. Brande LV, et al. Among authors: seferian am. Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111/nan.12952. Online ahead of print. Neuropathol Appl Neurobiol. 2023. PMID: 38124360
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. Lawlor MW, et al. Among authors: seferian am. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016/j.ebiom.2023.104894. Epub 2023 Dec 12. EBioMedicine. 2024. PMID: 38086156 Free PMC article.
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Shieh PB, et al. Among authors: seferian am. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. Lancet Neurol. 2023. PMID: 37977713 Free article. Clinical Trial.
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: seferian a. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
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