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Page 1
Reconsidering the causality of TIA1 mutations in ALS.
van der Spek RA, van Rheenen W, Pulit SL, Kenna KP, Ticozzi N, Kooyman M, Mclaughlin RL, Moisse M, van Eijk KR, van Vugt JJFA, Iacoangeli A, Andersen P, Nazli Basak A, Blair I, de Carvalho M, Chio A, Corcia P, Couratier P, Drory VE, Glass JD, Hardiman O, Mora JS, Morrison KE, Mitne-Neto M, Robberecht W, Shaw PJ, Panadés MP, van Damme P, Silani V, Gotkine M, Weber M, van Es MA, Landers JE, Al-Chalabi A, van den Berg LH, Veldink JH; PROJECT MINE ALS SEQUENCING CONSORTIUM. van der Spek RA, et al. Among authors: couratier p. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):1-3. doi: 10.1080/21678421.2017.1413118. Epub 2017 Dec 13. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29235362 Free PMC article. No abstract available.
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A; Project MinE ALS Sequencing Consortium; Veldink JH, Kirby J, Snyder MP, Shaw PJ. Cooper-Knock J, et al. Cell Rep. 2020 Dec 1;33(9):108456. doi: 10.1016/j.celrep.2020.108456. Cell Rep. 2020. PMID: 33264630 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.
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis.
Sapaly D, Cheguillaume F, Weill L, Clerc Z, Biondi O, Bendris S, Buon C, Slika R, Piller E, Sundaram VK, da Silva Ramos A, Amador MDM, Lenglet T, Debs R, Le Forestier N, Pradat PF, Salachas F, Lacomblez L, Hesters A, Borderie D, Devos D, Desnuelle C, Rolland AS, Periou B, Vasseur S, Chapart M, Le Ber I, Fauret-Amsellem AL, Millecamps S, Maisonobe T, Leonard-Louis S, Behin A, Authier FJ, Evangelista T, Charbonnier F, Bruneteau G; PULSE study group. Sapaly D, et al. Brain. 2024 Aug 28:awae270. doi: 10.1093/brain/awae270. Online ahead of print. Brain. 2024. PMID: 39197036
Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition.
Huin V, Blum D, Delforge V, Cailliau E, Djeziri S, Dujardin K, Genet A, Viard R, Attarian S, Bruneteau G, Cassereau J, Genestet S, Kaminsky AL, Soriani MH, Lefilliatre M, Couratier P, Pittion-Vouyovitch S, Esselin F, De La Cruz E, Guy N, Kolev I, Corcia P, Cintas P, Desnuelle C, Buée L, Danel-Brunaud V, Devos D, Rolland AS. Huin V, et al. Among authors: couratier p. Neurobiol Dis. 2024 Sep;199:106603. doi: 10.1016/j.nbd.2024.106603. Epub 2024 Jul 11. Neurobiol Dis. 2024. PMID: 39002811 Free article.
Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a 'real-world' setting.
Corcia P, Guy N, Pradat PF, Soriani MH, Verschueren A, Couratier P. Corcia P, et al. Among authors: couratier p. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Jul 7:1-7. doi: 10.1080/21678421.2024.2375330. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 38973130 Review.
Magnetic Resonance Imaging Measures to Track Atrophy Progression in Progressive Supranuclear Palsy in Clinical Trials.
Quattrone A, Franzmeier N, Huppertz HJ, Klietz M, Roemer SN, Boxer AL, Levin J, Höglinger GU; AL‐108‐231 Investigators, the Tauros MRI Investigators, the PASSPORT Study Group, the DESCRIBE‐PSP Group. Quattrone A, et al. Mov Disord. 2024 Aug;39(8):1329-1342. doi: 10.1002/mds.29866. Epub 2024 Jun 2. Mov Disord. 2024. PMID: 38825840
Could PLS represent a UMN-predominant ALS syndrome?
Corcia P, Couratier P, Ingre C. Corcia P, et al. Among authors: couratier p. Rev Neurol (Paris). 2024 May 22:S0035-3787(24)00529-0. doi: 10.1016/j.neurol.2024.04.006. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38782644 Review.
279 results