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Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, Bras J; Alzheimer's Research UK Consortium; Morgan K, Powell JF, Singleton A, Hardy J. Sassi C, et al. Among authors: niblock m. Neurobiol Aging. 2014 Dec;35(12):2881.e1-2881.e6. doi: 10.1016/j.neurobiolaging.2014.06.002. Epub 2014 Jun 16. Neurobiol Aging. 2014. PMID: 25104557 Free PMC article.
RNA Misprocessing in C9orf72-Linked Neurodegeneration.
Barker HV, Niblock M, Lee YB, Shaw CE, Gallo JM. Barker HV, et al. Among authors: niblock m. Front Cell Neurosci. 2017 Jul 11;11:195. doi: 10.3389/fncel.2017.00195. eCollection 2017. Front Cell Neurosci. 2017. PMID: 28744202 Free PMC article. Review.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. Daich Varela M, et al. Among authors: niblock m. Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227. Hum Mol Genet. 2023. PMID: 36084042 Free PMC article.
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Khan M, Arno G, Fakin A, Parfitt DA, Dhooge PPA, Albert S, Bax NM, Duijkers L, Niblock M, Hau KL, Bloch E, Schiff ER, Piccolo D, Hogden MC, Hoyng CB, Webster AR, Cremers FPM, Cheetham ME, Garanto A, Collin RWJ. Khan M, et al. Among authors: niblock m. Mol Ther Nucleic Acids. 2020 Sep 4;21:412-427. doi: 10.1016/j.omtn.2020.06.007. Epub 2020 Jun 12. Mol Ther Nucleic Acids. 2020. PMID: 32653833 Free PMC article.
The Cynosure of CtBP: Evolution of a Bilaterian Transcriptional Corepressor.
Raicu AM, Kadiyala D, Niblock M, Jain A, Yang Y, Bird KM, Bertholf K, Seenivasan A, Siddiq M, Arnosti DN. Raicu AM, et al. Among authors: niblock m. Mol Biol Evol. 2023 Feb 3;40(2):msad003. doi: 10.1093/molbev/msad003. Mol Biol Evol. 2023. PMID: 36625090 Free PMC article.
22 results