ORCA
Online Research @ Cardiff
Browse by All Cardiff Authors
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Up a levelNumber of items: 7.
Kilarski, Laura, Pearson, Justin Peter, Newsway, Victoria Elizabeth, Majounie, Elisa  ORCID: https://orcid.org/0000-0003-2800-1091, Knipe, M. Duleeka W., Misbahuddin, Anjum, Chinnery, Patrick F., Burn, David J., Clarke, Carl E., Marion, Marie-Helene, Lewthwaite, Alistair J., Nicholl, David J., Wood, Nicholas W., Morrison, Karen E., Williams-Gray, Caroline H., Evans, Jonathan R., Sawcer, Stephen J., Barker, Roger A., Wickremaratchi, Mirdhu M., Ben-Shlomo, Yoav, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931 and Morris, Huw Rees
2012.
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1)andLRRK2in early-onset Parkinson's disease.
Movement Disorders
27
(12)
, pp. 1522-1529.
10.1002/mds.25132
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Pearson, Justin P., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Waite, Adrian James, Stott, Jennifer, Newsway, Victoria, Murray, Alexandra, Hernandez, Dena, Guerreiro, Rita, Singleton, Andrew B., Neal, James William and Morris, Huw Rees
2011.
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p.
Journal of Neurology
258
(4)
, pp. 647-655.
10.1007/s00415-010-5815-x
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Newsway, Victoria Elizabeth, Fish, Mark, Rohrer, Jonathan D., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Hack, Melissa Anne, Warren, Jason D. and Morris, Huw Rees
2010.
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
Movement Disorders
25
(6)
, pp. 767-770.
10.1002/mds.22950
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Wolf, Andreas, Millar, David Stuart, Caliebe, Amke, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Kumpf, Dorothea, Steinmann, Katharina, Chee, Ik-Seung, Lee, Young-Ho, Mutirangura, Apiwat, Pepe, Guglielmina, Rickards, Olga, Schmidtke, Jörg, Schempp, Werner, Chuzhanova, Nadia, Kehrer-Sawatzki, Hildegard, Krawczak, Michael and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484
2009.
A gene conversion hotspot in the human growth hormone (GH1) gene promoter.
Human Mutation
30
(2)
, pp. 239-247.
10.1002/humu.20850
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Millar, David Stuart, Lewis, Mark David, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Rees, Dafydd Aled ORCID: https://orcid.org/0000-0002-1165-9092, Easter, Tammy Elaine, Pepe, Guglielmina, Rickards, Olga, Norin, Martin, Scanlon, Maurice Francis, Krawczak, Michael and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484
2008.
Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population.
Molecular and Cellular Endocrinology
296
(1-2)
, pp. 18-25.
10.1016/j.mce.2008.09.023
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Lewis, Mark D., Horan, Martin Patrick, Millar, David Stuart, Newsway, Vicky, Easter, Tammy Elaine, Fryklund, Linda, Gregory, John Welbourn ORCID: https://orcid.org/0000-0001-5189-3812, Norin, Martin, Del Valle, Cristóbal-Jorge, López-Siguero, Juan Pedro, Cañete, Ramón, López-Canti, Luis Fernando, Díaz-Torrado, Nieves, Espino, Rafael, Ulied, Angels, Scanlon, Maurice Francis, Procter, Annie M. and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484
2004.
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.
Journal of Clinical Endocrinology & Metabolism
89
(3)
, pp. 1068-1075.
10.1210/jc.2003-030652
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Millar, David Stuart, Lewis, Mark David, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Easter, Tammy Elaine, Gregory, John Welbourn ORCID: https://orcid.org/0000-0001-5189-3812, Fryklund, Linda, Norin, Martin, Crowne, Elizabeth C., Davies, Sally J., Edwards, Phillip, Kirk, Jeremy, Waldron, Kim, Smith, Patricia J., Phillips III, John A., Scanlon, Maurice Francis, Krawczak, Michael, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Procter, Annie M.
2003.
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Human Mutation
21
(4)
, pp. 424-440.
10.1002/humu.10168
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