Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Emma L. Randall"'
Autor:
Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorene Aeschbach, Emma L Randall, Evgeniya Trofimenko, Eleanor R Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J Hafford-Tear, Alice E Davidson, Thomas H Massey, Darren G Monckton, Lesley Jones, REGISTRY Investigators of the European Huntington’s disease network, Ioannis Xenarios, Vincent Dion
Publikováno v:
NAR genomics and bioinformatics, vol. 4, no. 4, pp. lqac089
Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and preclinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467b8c6a7d2fd77701af241e15b9bce6
https://doi.org/10.1093/nargab/lqac089
https://doi.org/10.1093/nargab/lqac089
Publikováno v:
I: Experimental therapeutics – preclinical.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b4219f91333160ca734dbc876343333
https://doi.org/10.1136/jnnp-2022-ehdn.231
https://doi.org/10.1136/jnnp-2022-ehdn.231
Autor:
Tuncay Baubec, Ana C. Marques, Gustavo A. Ruiz Buendía, Flavia Marzetta, Marion Leleu, Ludovica Vanzan, Ioannis Xenarios, Victor Ythier, Rabih Murr, Vincent Dion, Emma L. Randall, Jennifer Y. Tan
Publikováno v:
Science Advances
Science advances, vol. 6, no. 27, pp. eaaz4012
Science advances, vol. 6, no. 27, pp. eaaz4012
Unexpectedly, the molecular pathogenesis of expanded CAG/CTG diseases does not include changes in 3D chromatin conformation.
Expanded CAG/CTG repeats underlie 13 neurological disorders, including myotonic dystrophy type 1 (DM1) and Huntington’
Expanded CAG/CTG repeats underlie 13 neurological disorders, including myotonic dystrophy type 1 (DM1) and Huntington’
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369e9f1966f82516abe6c54b51cd784f
http://europepmc.org/articles/PMC7334000
http://europepmc.org/articles/PMC7334000