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An inducible mouse model of late onset Tay-Sachs disease.
Jeyakumar M, Smith D, Eliott-Smith E, Cortina-Borja M, Reinkensmeier G, Butters TD, Lemm T, Sandhoff K, Perry VH, Dwek RA, Platt FM. Jeyakumar M, et al. Neurobiol Dis. 2002 Aug;10(3):201-10. doi: 10.1006/nbdi.2002.0511. Neurobiol Dis. 2002. PMID: 12270683
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM. Cortina-Borja M, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9. Orphanet J Rare Dis. 2018. PMID: 30115089 Free PMC article.
Behavioural difficulties in early childhood and risk of adolescent injury.
Bandyopadhyay A, Tingay K, Akbari A, Griffiths L, Bedford H, Cortina-Borja M, Walton S, Dezateux C, Lyons RA, Brophy S. Bandyopadhyay A, et al. Arch Dis Child. 2020 Mar;105(3):282-287. doi: 10.1136/archdischild-2019-317271. Epub 2019 Oct 30. Arch Dis Child. 2020. PMID: 31666244 Free PMC article.
Acetyl-leucine slows disease progression in lysosomal storage disorders.
Kaya E, Smith DA, Smith C, Morris L, Bremova-Ertl T, Cortina-Borja M, Fineran P, Morten KJ, Poulton J, Boland B, Spencer J, Strupp M, Platt FM. Kaya E, et al. Brain Commun. 2020 Dec 20;3(1):fcaa148. doi: 10.1093/braincomms/fcaa148. eCollection 2021. Brain Commun. 2020. PMID: 33738443 Free PMC article.
260 results