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Page 1
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: lumbroso s. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
Guissart C, De la Cruz E, Flabeau O, Grapperon AM, Corazza G, Junilhon L, Delmas JC, Millecamps S, Polge A, Amador MDM, Salachas F, Rochat J, Goizet C, Juntas Morales R, Lumbroso S, Philibert P, Cheillan D, Mouzat K. Guissart C, et al. Among authors: lumbroso s. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):288-290. doi: 10.1136/jnnp-2023-331753. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041669 No abstract available.
Performance and cost efficiency of KRAS mutation testing for metastatic colorectal cancer in routine diagnosis: the MOKAECM study, a nationwide experience.
Blons H, Rouleau E, Charrier N, Chatellier G, Côté JF, Pages JC, de Fraipont F, Boyer JC, Merlio JP, Morel A, Gorisse MC, de Cremoux P, Leroy K, Milano G, Ouafik L, Merlin JL, Le Corre D, Aucouturier P, Sabourin JC, Nowak F, Frebourg T, Emile JF, Durand-Zaleski I, Laurent-Puig P; MOKAECM Collaborative Group. Blons H, et al. PLoS One. 2013 Jul 25;8(7):e68945. doi: 10.1371/journal.pone.0068945. Print 2013. PLoS One. 2013. PMID: 23935912 Free PMC article.
MiniSOX9, a dominant-negative variant in colon cancer cells.
Abdel-Samad R, Zalzali H, Rammah C, Giraud J, Naudin C, Dupasquier S, Poulat F, Boizet-Bonhoure B, Lumbroso S, Mouzat K, Bonnans C, Pignodel C, Raynaud P, Fort P, Quittau-Prévostel C, Blache P. Abdel-Samad R, et al. Among authors: lumbroso s. Oncogene. 2011 Jun 2;30(22):2493-503. doi: 10.1038/onc.2010.621. Epub 2011 Feb 7. Oncogene. 2011. PMID: 21297661
Accuracy of 18-fluoro-2-deoxy-D-glucose positron emission tomography in the pretherapeutic detection of occult para-aortic node involvement in patients with a locally advanced cervical carcinoma.
Leblanc E, Gauthier H, Querleu D, Ferron G, Zerdoud S, Morice P, Uzan C, Lumbroso S, Lecuru F, Bats AS, Ghazzar N, Bannier M, Houvenaeghel G, Brenot-Rossi I, Narducci F. Leblanc E, et al. Among authors: lumbroso s. Ann Surg Oncol. 2011 Aug;18(8):2302-9. doi: 10.1245/s10434-011-1583-9. Epub 2011 Feb 23. Ann Surg Oncol. 2011. PMID: 21347790
Genetic association of the kynurenine pathway to suicidal behavior.
Tamimou R, Montout C, Mura T, Conejero I, Evrard A, Courtet P, Bonilla-Escribano P, Riaza C, Vaquero-Lorenzo C, Baca-Garcia E, Jollant F, Lumbroso S, Mouzat K, Lopez-Castroman J. Tamimou R, et al. Among authors: lumbroso s. Brain Behav Immun Health. 2024 Nov 12;42:100903. doi: 10.1016/j.bbih.2024.100903. eCollection 2024 Dec. Brain Behav Immun Health. 2024. PMID: 39650284 Free PMC article.
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass JD, Land… See abstract for full author list ➔ Saez-Atienzar S, et al. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 Free PMC article.
149 results