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311 results

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Page 1
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ. Chiò A, et al. Among authors: fisher em. Hum Mol Genet. 2009 Apr 15;18(8):1524-32. doi: 10.1093/hmg/ddp059. Epub 2009 Feb 4. Hum Mol Genet. 2009. PMID: 19193627 Free PMC article.
Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape.
Kalokairinou L, Howard HC, Slokenberga S, Fisher E, Flatscher-Thöni M, Hartlev M, van Hellemondt R, Juškevičius J, Kapelenska-Pregowska J, Kováč P, Lovrečić L, Nys H, de Paor A, Phillips A, Prudil L, Rial-Sebbag E, Romeo Casabona CM, Sándor J, Schuster A, Soini S, Søvig KH, Stoffel D, Titma T, Trokanas T, Borry P. Kalokairinou L, et al. J Community Genet. 2018 Apr;9(2):117-132. doi: 10.1007/s12687-017-0344-2. Epub 2017 Nov 18. J Community Genet. 2018. PMID: 29150824 Free PMC article.
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Milioto C, Carcolé M, Giblin A, Coneys R, Attrebi O, Ahmed M, Harris SS, Lee BI, Yang M, Ellingford RA, Nirujogi RS, Biggs D, Salomonsson S, Zanovello M, de Oliveira P, Katona E, Glaria I, Mikheenko A, Geary B, Udine E, Vaizoglu D, Anoar S, Jotangiya K, Crowley G, Smeeth DM, Adams ML, Niccoli T, Rademakers R, van Blitterswijk M, Devoy A, Hong S, Partridge L, Coyne AN, Fratta P, Alessi DR, Davies B, Busche MA, Greensmith L, Fisher EMC, Isaacs AM. Milioto C, et al. Among authors: fisher emc. Nat Neurosci. 2024 Apr;27(4):643-655. doi: 10.1038/s41593-024-01589-4. Epub 2024 Feb 29. Nat Neurosci. 2024. PMID: 38424324 Free PMC article.
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.
Godoy-Corchuelo JM, Ali Z, Brito Armas JM, Martins-Bach AB, García-Toledo I, Fernández-Beltrán LC, López-Carbonero JI, Bascuñana P, Spring S, Jimenez-Coca I, Muñoz de Bustillo Alfaro RA, Sánchez-Barrena MJ, Nair RR, Nieman BJ, Lerch JP, Miller KL, Ozdinler HP, Fisher EMC, Cunningham TJ, Acevedo-Arozena A, Corrochano S. Godoy-Corchuelo JM, et al. Among authors: fisher emc. Neurobiol Dis. 2024 Apr;193:106437. doi: 10.1016/j.nbd.2024.106437. Epub 2024 Feb 15. Neurobiol Dis. 2024. PMID: 38367882 Free PMC article.
Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome.
Serrano ME, Kim E, Siow B, Ma D, Rojo L, Simmons C, Hayward D, Gibbins D, Singh N, Strydom A, Fisher EMC, Tybulewicz VLJ, Cash D. Serrano ME, et al. Among authors: fisher emc. Neurobiol Dis. 2023 Nov;188:106336. doi: 10.1016/j.nbd.2023.106336. Neurobiol Dis. 2023. PMID: 38317803 Free PMC article.
Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome.
Lana-Elola E, Aoidi R, Llorian M, Gibbins D, Buechsenschuetz C, Bussi C, Flynn H, Gilmore T, Watson-Scales S, Haugsten Hansen M, Hayward D, Song OR, Brault V, Herault Y, Deau E, Meijer L, Snijders AP, Gutierrez MG, Fisher EMC, Tybulewicz VLJ. Lana-Elola E, et al. Among authors: fisher emc. Sci Transl Med. 2024 Jan 24;16(731):eadd6883. doi: 10.1126/scitranslmed.add6883. Epub 2024 Jan 24. Sci Transl Med. 2024. PMID: 38266108 Free PMC article.
Creation of de novo cryptic splicing for ALS/FTD precision medicine.
Wilkins OG, Chien MZYJ, Wlaschin JJ, Pisliakova M, Thompson D, Digby H, Simkin RL, Diaz JA, Mehta PR, Keuss MJ, Zanovello M, Brown AL, Harley P, Darbey A, Karda R, Fisher EMC, Cunningham TJ, Le Pichon CE, Ule J, Fratta P. Wilkins OG, et al. Among authors: fisher emc. bioRxiv [Preprint]. 2023 Nov 15:2023.11.15.565967. doi: 10.1101/2023.11.15.565967. bioRxiv. 2023. PMID: 38014203 Free PMC article. Preprint.
Affordable optical clearing and immunolabelling in mouse brain slices.
Muza PM, Pérez M, Noy S, Kurosawa M, Katsouri L, Tybulewicz VLJ, Fisher EMC, West SJ. Muza PM, et al. Among authors: fisher emc. BMC Res Notes. 2023 Sep 30;16(1):246. doi: 10.1186/s13104-023-06511-y. BMC Res Notes. 2023. PMID: 37777793 Free PMC article.
Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations.
Ali Z, Godoy-Corchuelo JM, Martins-Bach AB, Garcia-Toledo I, Fernández-Beltrán LC, Nair RR, Spring S, Nieman BJ, Jimenez-Coca I, Bains RS, Forrest H, Lerch JP, Miller KL, Fisher EMC, Cunningham TJ, Corrochano S. Ali Z, et al. Among authors: fisher emc. Dis Model Mech. 2023 Oct 1;16(10):dmm050200. doi: 10.1242/dmm.050200. Epub 2023 Oct 23. Dis Model Mech. 2023. PMID: 37772684 Free PMC article.
311 results