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Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM. Fratta P, et al. Among authors: collins t. Neurobiol Aging. 2015 Jan;36(1):546.e1-7. doi: 10.1016/j.neurobiolaging.2014.07.037. Epub 2014 Aug 1. Neurobiol Aging. 2015. PMID: 25179228 Free PMC article.
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Fratta P, et al. Among authors: collins t. J Neurol Neurosurg Psychiatry. 2014 May;85(5):506-8. doi: 10.1136/jnnp-2013-306761. Epub 2013 Dec 5. J Neurol Neurosurg Psychiatry. 2014. PMID: 24309268 Free PMC article.
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A. Fratta P, et al. Among authors: collins t. EMBO J. 2018 Jun 1;37(11):e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15. EMBO J. 2018. PMID: 29764981 Free PMC article.
Correlation of clinical and molecular features in spinal bulbar muscular atrophy.
Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG. Fratta P, et al. Among authors: collins t. Neurology. 2014 Jun 10;82(23):2077-84. doi: 10.1212/WNL.0000000000000507. Epub 2014 May 9. Neurology. 2014. PMID: 24814851 Free PMC article.
A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits.
Cleverley K, Lee WC, Mumford P, Collins T, Rickman M, Cunningham TJ, Cleak J, Mianne J, Szoke-Kovacs Z, Stewart M, Teboul L, Maduro C, Wells S, Wiseman FK, Fisher EMC. Cleverley K, et al. Among authors: collins t. Mamm Genome. 2021 Apr;32(2):94-103. doi: 10.1007/s00335-021-09864-6. Epub 2021 Mar 13. Mamm Genome. 2021. PMID: 33713180 Free PMC article.
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.
Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Webb R, Chávez-Gutiérrez L, Cleverley K, Noy S, Sheppard O, Collins T, Powell C, Sarell CJ, Rickman M, Choong X, Tosh JL, Siganporia C, Whittaker HT, Stewart F, Szaruga M; London Down syndrome consortium; Murphy MP, Blennow K, de Strooper B, Zetterberg H, Bannerman D, Holtzman DM, Tybulewicz VLJ, Fisher EMC; LonDownS Consortium. Wiseman FK, et al. Among authors: collins t. Brain. 2018 Aug 1;141(8):2457-2474. doi: 10.1093/brain/awy159. Brain. 2018. PMID: 29945247 Free PMC article.
High-Statistics Measurement of the Cosmic-Ray Electron Spectrum with H.E.S.S.
Aharonian F, Benkhali FA, Aschersleben J, Ashkar H, Backes M, Martins VB, Batzofin R, Becherini Y, Berge D, Bernlöhr K, Bi B, Böttcher M, Boisson C, Bolmont J, de Lavergne MB, Borowska J, Bouyahiaoui M, Brose R, Brown A, Brun F, Bruno B, Bulik T, Burger-Scheidlin C, Bylund T, Casanova S, Celic J, Cerruti M, Chand T, Chandra S, Chen A, Chibueze J, Chibueze O, Collins T, Cotter G, Mbarubucyeye JD, Devin J, Djuvsland J, Dmytriiev A, Egberts K, Einecke S, Ernenwein JP, Fegan S, Feijen K, Fontaine G, Funk S, Gabici S, Gallant YA, Glicenstein JF, Glombitza J, Grolleron G, Heß B, Hofmann W, Holch TL, Holler M, Horns D, Huang Z, Jamrozy M, Jankowsky F, Joshi V, Jung-Richardt I, Kasai E, Katarzyński K, Kerszberg D, Khatoon R, Khélifi B, Kluźniak W, Komin N, Kosack K, Kostunin D, Kundu A, Lang RG, Le Stum S, Leitl F, Lemière A, Lemoine-Goumard M, Lenain JP, Leuschner F, Luashvili A, Mackey J, Malyshev D, Malyshev D, Marandon V, Marinos P, Martí-Devesa G, Marx R, Meyer M, Mitchell A, Moderski R, Moghadam MO, Mohrmann L, Montanari A, Moulin E, de Naurois M, Niemiec J, Ohm S, Olivera-Nieto L, Wilhelmi EO, Ostrowski M, Panny S, Panter M, Parsons D, Pensec U, Peron G, Pühlhofer G, Punch M… See abstract for full author list ➔ Aharonian F, et al. Among authors: collins t. Phys Rev Lett. 2024 Nov 29;133(22):221001. doi: 10.1103/PhysRevLett.133.221001. Phys Rev Lett. 2024. PMID: 39672149
1,529 results