Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Chughtai, Uroosa"'
Autor:
Bogetofte, Helle, Ryan, Brent J., Jensen, Pia, Schmidt, Sissel I., Vergoossen, Dana L.E., Barnkob, Mike B., Kiani, Lisa N., Chughtai, Uroosa, Heon-Roberts, Rachel, Caiazza, Maria Claudia, McGuinness, William, Márquez-Gómez, Ricardo, Vowles, Jane, Bunn, Fiona S., Brandes, Janine, Kilfeather, Peter, Connor, Jack P., Fernandes, Hugo J.R., Caffrey, Tara M., Meyer, Morten, Cowley, Sally A., Larsen, Martin R., Wade-Martins, Richard
Publikováno v:
In Cell Reports 28 March 2023 42(3)
Autor:
McAllister, Branduff, Donaldson, Jasmine, Binda, Caroline, Powell, Sophie, Chughtai, Uroosa, Edwards, Gareth, Stone, Joseph, Lobanov, Sergey, Elliston, Linda, Schuhmacher, Laura, Rees, Elliott, Menzies, Georgina, Ciosi, Marc, Maxwell, Alastair, Chao, Michael, Eun Pyo, Hong, Lucente, Diane, Wheeler, Vanessa, Jong-Min, Lee, MacDonald, Marcy, Long, Jeffrey, Aylward, Elizabeth, Landwehrmeyer, G. Bernhard, Rosser, Anne, REGISTRY Investigators of the European Huntington’s disease netw, Paulsen, Jane, PREDICT-HD Investigators of the Huntington Study Group, Williams, Nigel, Gusella, James, Monckton, Darren, Allen, Nicholas, Holmans, Peter, Jones, Lesley, Massey, Thomas
The age at onset of motor symptoms in Huntington’s disease (HD) is driven byHTTCAG repeat length but modified by other genes. In this study, we used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4672876c574bdbe0b8cb8c6f9285fcdd
https://orca.cardiff.ac.uk/id/eprint/148983/3/s41593-022-01033-5.pdf
https://orca.cardiff.ac.uk/id/eprint/148983/3/s41593-022-01033-5.pdf
Autor:
Bogetofte, Helle, Ryan, Brent J., Jensen, Pia, Schmidt, Sissel I., Vergoossen, Dana L.E., Barnkob, Mike B., Kiani, Lisa N., Chughtai, Uroosa, Heon-Roberts, Rachel, Caiazza, Maria Claudia, McGuinness, William, Márquez-Gómez, Ricardo, Vowles, Jane, Bunn, Fiona S., Brandes, Janine, Kilfeather, Peter, Connor, Jack P., Fernandes, Hugo J.R., Caffrey, Tara M., Meyer, Morten, Cowley, Sally A., Larsen, Martin R., Wade-Martins, Richard
Publikováno v:
Cell Reports; March 2023, Vol. 42 Issue: 3
Autor:
Massey, Tom, McAllister, Branduff, Binda, Caroline, Donaldson, Jasmine, Chughtai, Uroosa, Holmans, Peter, Jones, Lesley
Publikováno v:
Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); 2022, Vol. 93 Issue: 6 pA4-A5, 2p
Autor:
McAllister B; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Donaldson J; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Binda CS; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Powell S; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Chughtai U; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Edwards G; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Stone J; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Lobanov S; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Elliston L; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Schuhmacher LN; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Rees E; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Menzies G; School of Biosciences, Cardiff University, Cardiff, UK., Ciosi M; Institute of Molecular, Cell and Systems Biology, University of Glasgow, Glasgow, UK., Maxwell A; Institute of Molecular, Cell and Systems Biology, University of Glasgow, Glasgow, UK., Chao MJ; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Hong EP; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Lucente D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Wheeler V; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Lee JM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics Program, Broad Institute, Cambridge, MA, USA., MacDonald ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics Program, Broad Institute, Cambridge, MA, USA., Long JD; Departments of Psychiatry and Biostatistics, University of Iowa, Iowa City, IA, USA., Aylward EH; Seattle Children's Research Institute, Seattle, WA, USA., Landwehrmeyer GB; Department of Neurology, University of Ulm, Ulm, Germany., Rosser AE; Brain Repair Group, Schools of Medicine and Biosciences, Cardiff University, Cardiff, UK.; Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK., Paulsen JS; University of Wisconsin, Madison, WI, USA., Williams NM; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Department of Neurology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics Program, Broad Institute, Cambridge, MA, USA., Monckton DG; Institute of Molecular, Cell and Systems Biology, University of Glasgow, Glasgow, UK., Allen ND; School of Biosciences, Cardiff University, Cardiff, UK., Holmans P; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Jones L; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK. jonesl1@cardiff.ac.uk.; UK Dementia Research Institute at Cardiff, Cardiff University, Cardiff, UK. jonesl1@cardiff.ac.uk., Massey TH; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK. masseyt1@cardiff.ac.uk.
Publikováno v:
Nature neuroscience [Nat Neurosci] 2022 Apr; Vol. 25 (4), pp. 446-457. Date of Electronic Publication: 2022 Apr 04.