Year |
Citation |
Score |
2019 |
Flower M, Lomeikaite V, Ciosi M, Cumming S, Morales F, Lo K, Hensman Moss D, Jones L, Holmans P, Monckton DG, Tabrizi SJ. MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain : a Journal of Neurology. PMID 31216018 DOI: 10.1093/Brain/Awz115 |
0.379 |
|
2018 |
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, et al. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. The Embo Journal. PMID 29764981 DOI: 10.15252/Embj.201798684 |
0.31 |
|
2018 |
Flower M, Lomeikaite V, Ciosi M, Morales F, Lo K, Moss DH, Jones L, Holmans P, Tabrizi SJ, Monckton DG. C06 Genetic variation in MSH3 that lowers its expression ameliorates disease course and limits repeat expansion in huntington’s disease and myotonic dystrophy type 1 Journal of Neurology, Neurosurgery, and Psychiatry. 89. DOI: 10.1136/Jnnp-2018-Ehdn.77 |
0.387 |
|
2017 |
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, et al. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice. Brain : a Journal of Neurology. PMID 29053787 DOI: 10.1093/Brain/Awx248 |
0.312 |
|
2017 |
Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S, Holmans P, Jones L, Tabrizi SJ. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. The Lancet. Neurology. PMID 28642124 DOI: 10.1016/S1474-4422(17)30161-8 |
0.373 |
|
2016 |
Drury S, Mason S, McKay F, Lo K, Boustred C, Jenkins L, Chitty LS. Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders. Advances in Experimental Medicine and Biology. 924: 71-75. PMID 27753022 DOI: 10.1007/978-3-319-42044-8_14 |
0.331 |
|
2016 |
Moss DH, Pardiñas A, Flower M, Miller J, Lo K, Plagnol V, Holmans P, Jones L, Langbehn D, Tabrizi S. GENETIC MODIFIERS OF HUNTINGTON'S DISEASE PROGRESSION Journal of Neurology, Neurosurgery & Psychiatry. 87: e1.35-e1. DOI: 10.1136/Jnnp-2016-315106.13 |
0.393 |
|
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