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Page 1
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V. Coolen M, et al. Among authors: altin n. Am J Hum Genet. 2022 May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. Am J Hum Genet. 2022. PMID: 35390279 Free PMC article.
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V. Chemin J, et al. Among authors: altin n. Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145. Brain. 2018. PMID: 29878067
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, Barcia G, Lefort N, Banal C, Vasilache-Dangles MT, Pitelet G, Lorino E, Rabasse N, Bieth E, Zaki MS, Topcu M, Sonmez FM, Musaev D, Stanley V, Bole-Feysot C, Nitschké P, Munnich A, Bahi-Buisson N, Fossoud C, Giuliano F, Colleaux L, Burglen L, Gleeson JG, Boddaert N, Saiardi A, Cantagrel V. Ucuncu E, et al. Among authors: altin n. Nat Commun. 2020 Nov 30;11(1):6087. doi: 10.1038/s41467-020-19919-y. Nat Commun. 2020. PMID: 33257696 Free PMC article.
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, Bole-Feysot C, Malan V, Caron B, Nitschké P, Desguerre I, Boddaert N, Rio M, Rausell A, Cantagrel V. Nicolle R, et al. Among authors: altin n. BMC Med Genomics. 2023 Jun 21;16(1):143. doi: 10.1186/s12920-023-01582-z. BMC Med Genomics. 2023. PMID: 37344844 Free PMC article.
Effect of adequacy of empirical antibiotic therapy for hospital-acquired bloodstream infections on intensive care unit patient prognosis: a causal inference approach using data from the Eurobact2 study.
Loiodice A, Bailly S, Ruckly S, Buetti N, Barbier F, Staiquly Q, Tabah A, Timsit JF; EUROBACT-2 Study Group, the European Society of Intensive Care Medicine (ESICM), the European Society of Clinical Microbiology, the Infectious Diseases (ESCMID) Study Group for Infections in Critically Ill Patients (ESGCIP) and the OUTCOMEREA Network. Loiodice A, et al. Clin Microbiol Infect. 2024 Dec;30(12):1559-1568. doi: 10.1016/j.cmi.2024.09.011. Epub 2024 Sep 24. Clin Microbiol Infect. 2024. PMID: 39326671 Free article.
Correction: Presentation, management, and outcomes of older compared to younger adults with hospital-acquired bloodstream infections in the intensive care unit: a multicenter cohort study.
Margalit I, Yahav D, Hoffman T, Tabah A, Ruckly S, Barbier F, Singer P, Timsit JF, Prendki V, Buetti N; EUROBACT-2 Study Group, the European Society of Intensive Care Medicine (ESICM), the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Study Groups for Infections in Critically Ill Patients (ESGCIP) and Infections in the Elderly (ESGIE), and the OUTCOMEREA Network. Margalit I, et al. Infection. 2024 Dec;52(6):2565-2566. doi: 10.1007/s15010-024-02377-9. Infection. 2024. PMID: 39186219 Free PMC article. No abstract available.
Presentation, management, and outcomes of older compared to younger adults with hospital-acquired bloodstream infections in the intensive care unit: a multicenter cohort study.
Margalit I, Yahav D, Hoffman T, Tabah A, Ruckly S, Barbier F, Singer P, Timsit JF, Prendki V, Buetti N; EUROBACT-2 Study Group, the European Society of Intensive Care Medicine (ESICM), the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Study Groups for Infections in Critically Ill Patients (ESGCIP) and Infections in the Elderly (ESGIE), and the OUTCOMEREA Network. Margalit I, et al. Infection. 2024 Dec;52(6):2435-2443. doi: 10.1007/s15010-024-02304-y. Epub 2024 Jun 13. Infection. 2024. PMID: 38869773 Free PMC article.
36 results