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Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Voyer TL, Debray JC, Stolzenberg MC, Pellé O, Becquard T, Riestra MR, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. Among authors: picard c. medRxiv [Preprint]. 2024 May 17:2024.05.17.24307356. doi: 10.1101/2024.05.17.24307356. medRxiv. 2024. PMID: 38798321 Free PMC article. Preprint.
Occurrence of Lupus-Like Nephritis in a Girl With NLRC4 Gain-of-Function Mutations.
Zekre F, Laurent A, Ranchin B, Foray AP, Thilloy M, Laverdure N, Picard C, Belot A. Zekre F, et al. Among authors: picard c. Kidney Int Rep. 2024 Feb 2;9(4):1136-1138. doi: 10.1016/j.ekir.2024.01.061. eCollection 2024 Apr. Kidney Int Rep. 2024. PMID: 38765589 Free PMC article. No abstract available.
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
Consonni F, Moreno S, Vinuales Colell B, Stolzenberg MC, Fernandes A, Parisot M, Masson C, Neveux N, Rosain J, Bamberger S, Vigue MG, Malphettes M, Quartier P, Picard C, Rieux-Laucat F, Magerus A. Consonni F, et al. Among authors: picard c. Cell Death Dis. 2024 May 4;15(5):315. doi: 10.1038/s41419-024-06679-6. Cell Death Dis. 2024. PMID: 38704374 Free PMC article.
Clinical value of plasma ALZpath pTau217 immunoassay for assessing mild cognitive impairment.
Lehmann S, Schraen-Maschke S, Vidal JS, Delaby C, Buee L, Blanc F, Paquet C, Allinquant B, Bombois S, Gabelle A, Hanon O; BALTAZAR study group. Lehmann S, et al. J Neurol Neurosurg Psychiatry. 2024 Apr 24:jnnp-2024-333467. doi: 10.1136/jnnp-2024-333467. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38658136 Free article.
Neurobehavioral Mechanisms Influencing the Association Between Generativity, the Desire to Promote Well-Being of Younger Generations, and Purpose in Life in Older Adults at Risk for Alzheimer's Disease.
Walker CS, Li L, Baracchini G, Tremblay-Mercier J, Spreng RN; PREVENT-AD Research Group; Geddes MR. Walker CS, et al. J Gerontol B Psychol Sci Soc Sci. 2024 Jun 1;79(6):gbae060. doi: 10.1093/geronb/gbae060. J Gerontol B Psychol Sci Soc Sci. 2024. PMID: 38623965 Free PMC article.
Contactin 5 and Apolipoproteins Interplay in Alzheimer's Disease.
Dauar MT, Picard C, Labonté A, Breitner J, Rosa-Neto P, Villeneuve S, Poirier J; PREVENT-AD Research Group. Dauar MT, et al. Among authors: picard c. J Alzheimers Dis. 2024;98(4):1361-1375. doi: 10.3233/JAD-231003. J Alzheimers Dis. 2024. PMID: 38578887
High risk of lung cancer in surfactant-related gene variant carriers.
Brudon A, Legendre M, Mageau A, Bermudez J, Bonniaud P, Bouvry D, Cadranel J, Cazes A, Crestani B, Dégot T, Delestrain C, Diesler R, Epaud R, Philippot Q, Théou-Anton N, Kannengiesser C, Ba I, Debray MP, Fanen P, Manali E, Papiris S, Nathan N, Amselem S, Gondouin A, Guillaumot A, Andréjak C, Jouneau S, Beltramo G, Uzunhan Y, Galodé F, Westeel V, Mehdaoui A, Hirschi S, Leroy S, Marchand-Adam S, Nunes H, Picard C, Prévot G, Reynaud-Gaubert M, De Vuyst P, Wemeau L, Defossez G, Zalcman G, Cottin V, Borie R; OrphaLung network. Brudon A, et al. Among authors: picard c. Eur Respir J. 2024 May 2;63(5):2301809. doi: 10.1183/13993003.01809-2023. Print 2024 May. Eur Respir J. 2024. PMID: 38575158 Free PMC article.
1,079 results