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Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F, Teyssou E, Chiot A, Boillée S, Lobsiger CS, Bohl D, Gyorgy B, Guegan J, Marie Y, Amador MDM, Salachas F, Meininger V, Bernard E, Antoine JC, Camdessanché JP, Camu W, Cazeneuve C, Fauret-Amsellem AL, Leguern E, Mouzat K, Guissart C, Lumbroso S, Corcia P, Vourc'h P, Grapperon AM, Attarian S, Verschueren A, Seilhean D, Millecamps S. Muratet F, et al. Among authors: bernard e. J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):942-949. doi: 10.1136/jnnp-2020-325921. Epub 2021 Mar 30. J Neurol Neurosurg Psychiatry. 2021. PMID: 33785574
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordström U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brännström T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH. Freischmidt A, et al. Among authors: bernard e. Nat Neurosci. 2015 May;18(5):631-6. doi: 10.1038/nn.4000. Epub 2015 Mar 24. Nat Neurosci. 2015. PMID: 25803835
Evaluation of the application of the European guidelines for the diagnosis and clinical care of amyotrophic lateral sclerosis (ALS) patients in six French ALS centres.
Marin B, Beghi E, Vial C, Bernard E, Lautrette G, Clavelou P, Guy N, Lemasson G, Debruxelles S, Cintas P, Antoine JC, Camdessanche JP, Logroscino G, Preux PM, Couratier P; EURECALS consortium. Marin B, et al. Among authors: bernard e. Eur J Neurol. 2016 Apr;23(4):787-95. doi: 10.1111/ene.12941. Epub 2016 Feb 1. Eur J Neurol. 2016. PMID: 26833536
Amyotrophic lateral sclerosis in Huntington disease gene carrier.
Bernard E, Mouzat K, Leblanc P, Bost M, Lumbroso S, Thobois S, Broussolle E. Bernard E, et al. Rev Neurol (Paris). 2017 Dec;173(10):670-671. doi: 10.1016/j.neurol.2017.05.005. Epub 2017 Jun 7. Rev Neurol (Paris). 2017. PMID: 28595974 No abstract available.
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. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Conservative iron chelation for neurodegenerative diseases such as Parkinson's disease and amyotrophic lateral sclerosis.
Devos D, Cabantchik ZI, Moreau C, Danel V, Mahoney-Sanchez L, Bouchaoui H, Gouel F, Rolland AS, Duce JA, Devedjian JC; FAIRPARK-II and FAIRALS-II studygroups. Devos D, et al. J Neural Transm (Vienna). 2020 Feb;127(2):189-203. doi: 10.1007/s00702-019-02138-1. Epub 2020 Jan 7. J Neural Transm (Vienna). 2020. PMID: 31912279 Free article. Review.
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.
Amador MD, Muratet F, Teyssou E, Banneau G, Danel-Brunaud V, Allart E, Antoine JC, Camdessanché JP, Anheim M, Rudolf G, Tranchant C, Fleury MC, Bernard E, Stevanin G, Millecamps S. Amador MD, et al. Among authors: bernard e. Neurol Genet. 2019 Nov 13;5(6):e374. doi: 10.1212/NXG.0000000000000374. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042907 Free PMC article.
The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.
Pradat PF, Bernard E, Corcia P, Couratier P, Jublanc C, Querin G, Morélot Panzini C, Salachas F, Vial C, Wahbi K, Bede P, Desnuelle C; French Kennedy’s Disease Writing Group. Pradat PF, et al. Among authors: bernard e. Orphanet J Rare Dis. 2020 Apr 10;15(1):90. doi: 10.1186/s13023-020-01366-z. Orphanet J Rare Dis. 2020. PMID: 32276665 Free PMC article.
956 results