Number of items: 9.
2022
Dawson, J., Baine-Savanhu, F. K., Ciosi, M. , Maxwell, A. , Monckton, D. G. and Krause, A.
(2022)
A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry.
Human Genetics and Genomics Advances, 3(4),
100130.
(doi: 10.1016/j.xhgg.2022.100130)
(PMID:35935919)
(PMCID:PMC9352962)
McAllister, B. et al.
(2022)
Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
Nature Neuroscience, 25(4),
pp. 446-457.
(doi: 10.1038/s41593-022-01033-5)
(PMID:35379994)
2020
Lu, A. T. et al.
(2020)
DNA methylation study of Huntington's disease and motor progression in patients and in animal models.
Nature Communications, 11,
4529.
(doi: 10.1038/s41467-020-18255-5)
(PMID:32913184)
(PMCID:PMC7484780)
Ellis, N. et al.
(2020)
Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease.
Biological Psychiatry, 87(9),
pp. 857-865.
(doi: 10.1016/j.biopsych.2019.12.010)
(PMID:32087949)
2019
Ciosi, M. et al.
(2019)
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.
EBioMedicine, 48,
pp. 568-580.
(doi: 10.1016/j.ebiom.2019.09.020)
(PMID:31607598)
(PMCID:PMC6838430)
Lee, J.-M. et al.
(2019)
CAG repeat not polyglutamine length determines timing of Huntington’s disease onset.
Cell, 178(4),
887-900.e14.
(doi: 10.1016/j.cell.2019.06.036)
2018
Ciosi, M. et al.
(2018)
Glutamine Codon Usage and Somatic Mosaicism of the HTT CAG Repeat Are Modifiers of Huntington Disease Severity.
EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.
Levesley, J., Baine, F., Ciosi, M. , Maxwell, A. , Monckton, D. G. and Krause, A.
(2018)
A CIS-acting Modifier of Age at Diagnosis of Huntington Disease in Black South African Patients.
EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.
2016
Monckton, D. , Ciosi, M. , Mubarak, A., Cumming, S., Hamilton, G., Maxwell, A. , The International-Venezuela Collaborative Research Group, -, The Scottish Myotonic Dystrophy Genetic Variation Consortium, - and The Track-On HD Research Team, -
(2016)
Cryptic Polyglutamine Repeat Sequence Variation and Somatic Instability in Huntington’s Disease: Drivers of Pathology?
European Huntington's Disease Network 9th Plenary Meeting, The Hague, The Netherlands, 16-18 Sep 2016.
(doi: 10.1136/jnnp-2016-314597.2)
This list was generated on Sat Dec 21 15:32:14 2024 GMT.