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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Zhang P, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, Pérez de Diego R, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland… See abstract for full author list ➔ Matuozzo D, et al. Among authors: rojas j. medRxiv [Preprint]. 2022 Oct 25:2022.10.22.22281221. doi: 10.1101/2022.10.22.22281221. medRxiv. 2022. PMID: 36324795 Free PMC article. Updated. Preprint.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort… See abstract for full author list ➔ Asano T, et al. Among authors: rojas j. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. Sci Immunol. 2021. PMID: 34413140 Free PMC article.
Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis.
Arango-Franco CA, Migaud M, Ramírez-Sánchez IC, Arango-Bustamante K, Moncada-Vélez M, Rojas J, Gervais A, Patiño-Giraldo S, Perez-Zapata LJ, Álvarez Álvarez JA, Orrego JC, Roncancio-Villamil G, Boisson-Dupuis S, Jouanguy E, Abel L, Casanova JL, Bustamante J, Arias AA, Franco JL, Puel A. Arango-Franco CA, et al. Among authors: rojas j. J Clin Immunol. 2023 Jul;43(5):921-932. doi: 10.1007/s10875-023-01451-5. Epub 2023 Feb 23. J Clin Immunol. 2023. PMID: 36821021 Free PMC article. Review.
Effect of patient-specific scapular morphology on the glenohumeral joint force and shoulder muscle force equilibrium: a study of rotator cuff tear and osteoarthritis patients.
Oswald A, Menze J, Hess H, Jacxsens M, Rojas JT, Lädermann A, Schär M, Ferguson SJ, Zumstein MA, Gerber K. Oswald A, et al. Among authors: rojas jt. Front Bioeng Biotechnol. 2024 May 14;12:1355723. doi: 10.3389/fbioe.2024.1355723. eCollection 2024. Front Bioeng Biotechnol. 2024. PMID: 38807649 Free PMC article.
Selection of disease modifying therapies in multiple sclerosis based on patient's age and disease activity: Data from a nationwide registry.
Piedrabuena MA, Correale J, Fiol M, Marrodan M, Rojas JI, Alonso M, Pappolla A, Miguez J, Patrucco L, Cristiano E, Vrech C, Cohen L, Alonso R, Silva B, Luetic G, Deri N, Burgos M, Liwacki S, Piedrabuena R, Tkachuk V, Barboza A, Martinez A, Balbuena ME, Pinheiro AA, Nofal P, Lopez PA, Tavolini D, Leguizamon F, Hryb JP, Tizio S, Recchia L, Reich E, Contentti EC, Marcilla MP, Pagani F, Cabrera LM, Curbelo MC, Mainella C, Liguori NF, Coppola M, Pettinicchi JP, Carra A, Jose G, Nadur D, Bestoso S, Pestchanker C, Vazquez GD, Martinez CM, Ysrraelit MC. Piedrabuena MA, et al. Among authors: rojas ji. J Neurol Sci. 2024 May 16;461:123052. doi: 10.1016/j.jns.2024.123052. Online ahead of print. J Neurol Sci. 2024. PMID: 38797140
Real-World Effectiveness and Safety of Cladribine in Multiple Sclerosis: Longitudinal Data From the Nationwide Registry in Argentina.
Rojas JI, Alonso R, Luetic G, Patrucco L, Casas M, Silva B, Miguez J, Deri N, Vrech C, Liwacki S, Piedrabuena R, Silva E, Tkachuk V, Burgos M, Tavolini D, Zanga G, Pinheiro AA, Hryb J, Leguizamon F, Knorre E, Lopez PA, Martinez A, Carrá A, Alonso Serena M, Cristiano E, Correale J, Garcea O, Fernandez Liguori N, Carnero Contentti E. Rojas JI, et al. Clin Neuropharmacol. 2024 May 23. doi: 10.1097/WNF.0000000000000598. Online ahead of print. Clin Neuropharmacol. 2024. PMID: 38776535
1,380 results