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Page 1
Genetic testing in motor neurone disease.
Dharmadasa T, Scaber J, Edmond E, Marsden R, Thompson A, Talbot K, Turner MR. Dharmadasa T, et al. Pract Neurol. 2022 Apr;22(2):107-116. doi: 10.1136/practneurol-2021-002989. Epub 2022 Jan 13. Pract Neurol. 2022. PMID: 35027459 Free PMC article. Review.
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Ababneh NA, Scaber J, Flynn R, Douglas A, Barbagallo P, Candalija A, Turner MR, Sims D, Dafinca R, Cowley SA, Talbot K. Ababneh NA, et al. Hum Mol Genet. 2020 Aug 3;29(13):2200-2217. doi: 10.1093/hmg/ddaa106. Hum Mol Genet. 2020. PMID: 32504093 Free PMC article.
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction.
Gordon D, Dafinca R, Scaber J, Alegre-Abarrategui J, Farrimond L, Scott C, Biggs D, Kent L, Oliver PL, Davies B, Ansorge O, Wade-Martins R, Talbot K. Gordon D, et al. Neurobiol Dis. 2019 Jan;121:148-162. doi: 10.1016/j.nbd.2018.09.024. Epub 2018 Oct 2. Neurobiol Dis. 2019. PMID: 30290270 Free article.
Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis.
Salter M, Corfield E, Ramadass A, Grand F, Green J, Westra J, Lim CR, Farrimond L, Feneberg E, Scaber J, Thompson A, Ossher L, Turner M, Talbot K, Cudkowicz M, Berry J, Hunter E, Akoulitchev A. Salter M, et al. EBioMedicine. 2018 Jul;33:169-184. doi: 10.1016/j.ebiom.2018.06.015. Epub 2018 Jun 23. EBioMedicine. 2018. PMID: 29941342 Free PMC article.
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Dafinca R, Scaber J, Ababneh N, Lalic T, Weir G, Christian H, Vowles J, Douglas AG, Fletcher-Jones A, Browne C, Nakanishi M, Turner MR, Wade-Martins R, Cowley SA, Talbot K. Dafinca R, et al. Stem Cells. 2016 Aug;34(8):2063-78. doi: 10.1002/stem.2388. Epub 2016 May 4. Stem Cells. 2016. PMID: 27097283 Free PMC article.