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Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Hanein S, et al. Among authors: fernandez j. Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg.2008.03.004. Am J Hum Genet. 2008. PMID: 18394578 Free PMC article.
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G. Goizet C, et al. Among authors: fernandez jc. Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59. Neurology. 2009. PMID: 19805727
Paenibacillus faecis sp. nov., isolated from human faeces.
Clermont D, Gomard M, Hamon S, Bonne I, Fernandez JC, Wheeler R, Malosse C, Chamot-Rooke J, Gribaldo S, Boneca IG, Bizet C. Clermont D, et al. Among authors: fernandez jc. Int J Syst Evol Microbiol. 2015 Dec;65(12):4621-4626. doi: 10.1099/ijsem.0.000622. Epub 2015 Sep 18. Int J Syst Evol Microbiol. 2015. PMID: 26394885
Study of the BHT Oxidation Mechanism Coupling Theory and Experiment.
Gavilán-Arriazu EM, Alaniz RD, Charoen-Amornkitt P, Fernández JM, Pierini GD, Rodriguez SA. Gavilán-Arriazu EM, et al. Among authors: fernandez jm. ACS Org Inorg Au. 2024 Sep 30;4(6):692-704. doi: 10.1021/acsorginorgau.4c00067. eCollection 2024 Dec 4. ACS Org Inorg Au. 2024. PMID: 39649994 Free PMC article.
Single cell multiomics reveal divergent effects of DNMT3A and TET2 mutant clonal hematopoiesis in inflammatory response.
Mohammed Ismail W, Fernandez J, Binder M, Lasho TL, Kim M, Geyer S, Mazzone A, Finke CM, Mangaonkar AA, Lee JH, Wang L, Kim KH, Simon VA, Rakhshan Rohakthar F, Munankarmy A, Byeon SK, Schwager SM, Harington JJ, Snyder MR, Robertson KD, Pandey A, Wieben ED, Chia N, Gaspar-Maia A, Patnaik MM. Mohammed Ismail W, et al. Among authors: fernandez j. Blood Adv. 2024 Dec 4:bloodadvances.2024014467. doi: 10.1182/bloodadvances.2024014467. Online ahead of print. Blood Adv. 2024. PMID: 39631069
6,580 results