C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
Hensman Moss, Davina J, Poulter, Mark, Beck, Jon, Hehir, Jason, Polke, James M, Campbell, Tracy, Adamson, Garry, Mudanohwo, Ese, McColgan, Peter, Haworth, Andrea, Wild, Edward J, Sweeney, Mary G, Houlden, Henry, Mead, Simon, Tabrizi, Sarah J
Published in Neurology (28.01.2014)
Published in Neurology (28.01.2014)
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Journal Article
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Bettencourt, Conceição, Hensman-Moss, Davina, Flower, Michael, Wiethoff, Sarah, Brice, Alexis, Goizet, Cyril, Stevanin, Giovanni, Koutsis, Georgios, Karadima, Georgia, Panas, Marios, Yescas-Gómez, Petra, García-Velázquez, Lizbeth Esmeralda, Alonso-Vilatela, María Elisa, Lima, Manuela, Raposo, Mafalda, Traynor, Bryan, Sweeney, Mary, Wood, Nicholas, Giunti, Paola, Durr, Alexandra, Holmans, Peter, Houlden, Henry, Tabrizi, Sarah J., Jones, Lesley
Published in Annals of neurology (01.06.2016)
Published in Annals of neurology (01.06.2016)
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Journal Article
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
Ciosi, Marc, Maxwell, Alastair, Cumming, Sarah A., Hensman Moss, Davina J., Alshammari, Asma M., Flower, Michael D., Durr, Alexandra, Leavitt, Blair R., Roos, Raymund A.C., Holmans, Peter, Jones, Lesley, Langbehn, Douglas R., Kwak, Seung, Tabrizi, Sarah J., Monckton, Darren G.
Published in EBioMedicine (01.10.2019)
Published in EBioMedicine (01.10.2019)
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Journal Article
Quantification of huntingtin protein species in Huntington's disease patient leukocytes using optimised electrochemiluminescence immunoassays
Hensman Moss, Davina J, Robertson, Nicola, Farmer, Ruth, Scahill, Rachael I, Haider, Salman, Tessari, Michela A, Flynn, Geraldine, Fischer, David F, Wild, Edward J, Macdonald, Douglas, Tabrizi, Sarah J
Published in PloS one (22.12.2017)
Published in PloS one (22.12.2017)
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Journal Article
RNA-Seq of Huntington's disease patient myeloid cells reveals innate transcriptional dysregulation associated with proinflammatory pathway activation
Miller, James R C, Lo, Kitty K, Andre, Ralph, Hensman Moss, Davina J, Träger, Ulrike, Stone, Timothy C, Jones, Lesley, Holmans, Peter, Plagnol, Vincent, Tabrizi, Sarah J
Published in Human molecular genetics (15.07.2016)
Published in Human molecular genetics (15.07.2016)
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Journal Article
Genetic modifiers of repeat expansion disorders
Rajagopal, Sangeerthana, Donaldson, Jasmine, Flower, Michael, Hensman Moss, Davina J, Tabrizi, Sarah J
Published in Emerging topics in life sciences (14.12.2023)
Published in Emerging topics in life sciences (14.12.2023)
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Journal Article
Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease
Hensman Moss, Davina J, Flower, Michael D, Lo, Kitty K, Miller, James R C, van Ommen, Gert-Jan B, 't Hoen, Peter A C, Stone, Timothy C, Guinee, Amelia, Langbehn, Douglas R, Jones, Lesley, Plagnol, Vincent, van Roon-Mom, Willeke M C, Holmans, Peter, Tabrizi, Sarah J
Published in Scientific reports (21.03.2017)
Published in Scientific reports (21.03.2017)
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Journal Article
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
Estevez-Fraga, Carlos, Magrinelli, Francesca, Hensman Moss, Davina, Mulroy, Eoin, Di Lazzaro, Giulia, Latorre, Anna, Mackenzie, Melissa, Houlden, Henry, Tabrizi, Sarah J, Bhatia, Kailash P
Published in Neurology. Genetics (01.04.2021)
Published in Neurology. Genetics (01.04.2021)
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Journal Article
C12 HTT repeat instability in family trios in the 100,000 genomes project
Hensman Moss, Davina, Dalmia, Anupriya, Galassi Deforie, Valentina, Ibanez, Kristina, Tabrizi, Sarah J, Lahiri, Nayana, Houlden, Henry, Holmans, Peter, Jones, Lesley, Tucci, Arianna
Published in Journal of neurology, neurosurgery and psychiatry (12.09.2022)
Published in Journal of neurology, neurosurgery and psychiatry (12.09.2022)
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Journal Article
Intellectual enrichment and genetic modifiers of cognition and brain volume in Huntington's disease
Papoutsi, Marina, Flower, Michael, Hensman Moss, Davina J, Holmans, Peter, Estevez-Fraga, Carlos, Johnson, Eileanoir B, Scahill, Rachael I, Rees, Geraint, Langbehn, Douglas, Tabrizi, Sarah J
Published in Brain communications (2022)
Published in Brain communications (2022)
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Journal Article
FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat
Goold, Robert, Flower, Michael, Moss, Davina Hensman, Medway, Chris, Wood-Kaczmar, Alison, Andre, Ralph, Farshim, Pamela, Bates, Gill P, Holmans, Peter, Jones, Lesley, Tabrizi, Sarah J
Published in Human molecular genetics (15.02.2019)
Published in Human molecular genetics (15.02.2019)
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Journal Article
Association of CAG Repeats With Long-term Progression in Huntington Disease
Langbehn, Douglas R, Stout, Julie C, Gregory, Sarah, Mills, James A, Durr, Alexandra, Leavitt, Blair R, Roos, Raymund A C, Long, Jeffrey D, Owen, Gail, Johnson, Hans J, Borowsky, Beth, Craufurd, David, Reilmann, Ralf, Landwehrmeyer, G Bernhard, Scahill, Rachael I, Tabrizi, Sarah J
Published in Archives of neurology (Chicago) (01.11.2019)
Published in Archives of neurology (Chicago) (01.11.2019)
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Journal Article
C01 Glutamine codon usage and somatic mosaicism of the HTT cag repeat are modifiers of huntington disease severity
Ciosi, Marc, Maxwell, Alastair, Cumming, Sarah, Hensman Moss, Davina J, Asma Mubarak Alshammari, Flower, Michael D, Durr, Alexandra, Leavitt, Blair R, Roos, Raymund A, Holmans, Peter, Jones, Lesley, Langbehn, Douglas R, Kwak, Seung, Tabrizi, Sarah J, Monckton, Darren G
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
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Journal Article
GENETIC MODIFIERS OF HUNTINGTON'S DISEASE PROGRESSION
Moss, Davina Hensman, Pardiñas, Antonio, Flower, Michael, Miller, James, Lo, Kitty, Plagnol, Vincent, Holmans, Peter, Jones, Lesley, Langbehn, Douglas, Tabrizi, Sarah
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2016)
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Journal Article
DNA REPAIR PATHWAYS MODULATE ONSET IN POLYGLUTAMINE DISEASES
Bettencourt, Conceição, Moss, Davina Hensman, Flower, Michael, Wiethoff, Sarah, Giunti, Paola, Durr, Alexandra, Holmans, Peter, Houlden, Henry, Tabrizi, Sarah, Jones, Lesley
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2016)
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Journal Article
B49 Genetic modifiers of huntington’s disease progression
Moss, Davina J Hensman, Pardiñas, Antonio F, Flower, Michael, Miller, James, Lo, Kitty, Plagnol, Vincent, Holmans, Peter, Jones, Lesley, Langbehn, Douglas, Tabrizi, Sarah J
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
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Journal Article
B15 Innate transcriptional dysregulation is associated with proinflammatory pathway activation in huntington’s disease myeloid cells
Andre, Ralph, Miller, James RC, Lo, Kitty K, Hensman Moss, Davina J, Träger, Ulrike, Stone, Timothy C, McErlean, Peter, Jones, Lesley, Holmans, Peter, Lavender, Paul, Plagnol, Vincent, Tabrizi, Sarah J
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
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Journal Article
B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases
Bettencourt, Conceição, Moss, Davina Hensman, Flower, Michael, Wiethoff, Sarah, Brice, Alexis, Goizet, Cyril, Stevanin, Giovanni, Koutsis, Georgios, Karadima, Georgia, Panas, Marios, Yescas-Gómez, Petra, García-Velázquez, Lizbeth Esmeralda, Alonso-Vilatela, María Elisa, Lima, Manuela, Raposo, Mafalda, Traynor, Bryan, Sweeney, Mary, Wood, Nicholas, Giunti, Paola, Durr, Alexandra, Holmans, Peter, Houlden, Henry, Tabrizi, Sarah J, Jones, Lesley
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
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Journal Article
B17 Blood transcriptome replicates dysregulation found in human huntington’s disease brain and shares an immune signature with alzheimer’s disease
Flower, Michael, Moss, Davina Hensman, Lo, Kitty K, Miller, James, Omen, Gert-Jan van, ’t Hoen, Peter AC, Stone, Timothy, Guinee, Amelia, Langbehn, Doug, Jones, Lesley, Plagnol, Vincent, van Roon-Mom, Willeke MC, Holmans, Peter, Tabrizi, Sarah J
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
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Journal Article