未登录 Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice? 亨廷顿病的基因检测:过去、现在和未来。基因数据如何用于改进临床实践? Moss, Davina J. Hensman; Ireland, Rhiannon; Chapman, Guy; MacLeod, Rhona; Labrum, Robyn; Polke, James M.; Monckton, Darren G.; Holmans, Peter; Massey, Tom H.; Lahiri, Nayana 分享 收藏
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Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity Fuchs内皮角膜营养不良风险和严重程度的遗传与人口学决定因素 Liu, Siyin; Sadan, Amanda N.; Bhattacharyya, Nihar; Zarouchlioti, Christina; Szabo, Anita; Abreu Costa, Marcos; Hafford-Tear, Nathaniel J.; Kladny, Anne-Marie S.; Dudakova, Lubica; Ciosi, Marc; Moghul, Ismail; Wilkins, Mark R.; Allan, Bruce; Skalicka, Pavlina; Hardcastle, Alison J.; Pontikos, Nikolas; Bunce, Catey; Monckton, Darren G.; Muthusamy, Kirithika; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E. 分享 收藏
International collaboration to improve knowledge on myotonic dystrophy type 2 国际合作以改进对强直性肌营养不良2型的认知 Peric, Stojan; Ivanovic, Vukan; Ashley, Emma-Jayne; Esparis, Belen; Campbell, Craig; Wenninger, Stephan; Monckton, Darren; Marini-Bettolo, Chiara; Walker, Helen; Vohanka, Stanislav; Cumming, Kleed; Lusakowska, Anna; Hodgkinson, Victoria; Cosyns, Marjan; Rodrigues, Miriam; Yiu, Eppie; Mazanec, Radim; Stevenson, Tanya; Kostera-Pruszczyk, Anna; Korngut, Lawrence; Jagut, Marlene; Schoser, Benedikt; Forbes, Robin; Poll, Annie; Roxburgh, Richard 分享 收藏
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Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onsetdelaying genetic modification in Huntington's disease Kim, Kyung-Hee; Hong, Eun Pyo; Lee, Yukyeong; Mclean, Zachariah L.; Elezi, Emanuela; Lee, Ramee; Kwak, Seung; Mcallister, Branduff; Massey, Thomas H.; Lobanov, Sergey; Holmans, Peter; Orth, Michael; Ciosi, Marc; Monckton, Darren G.; Long, Jeffrey D.; Lucente, Diane; Wheeler, Vanessa C.; Macdonald, Marcy E.; Gusella, James F.; Lee, Jong- Min 分享 收藏
Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders Adamson, Walt E.; Noyes, Harry; Johnson, Paul; Cooper, Anneli; Monckton, Darren G.; Ogunsola, John; Beckett-Hill, Georgia; Sullivan, Michael; Mark, Patrick; Parekh, Rulan S.; MacLeod, Annette 分享 收藏
Modification of Huntington's disease by short tandem repeats Hong, Eun Pyo; Ramos, Eliana Marisa; Aziz, N. Ahmad; Massey, Thomas H.; Mcallister, Branduff; Lobanov, Sergey; Jones, Lesley; Holmans, Peter; Kwak, Seung; Orth, Michael; Ciosi, Marc; Lomeikaite, Vilija; Monckton, Darren G.; Long, Jeffrey D.; Lucente, Diane; Wheeler, Vanessa C.; Gillis, Tammy; Macdonald, Marcy E.; Sequeiros, Jorge; Gusella, James F.; Lee, Jong-Min 分享 收藏
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing Taylor, Alysha S.; Barros, Dinis; Gobet, Nastassia; Schuepbach, Thierry; McAllister, Branduff; Aeschbach, Lorene; Randall, Emma L.; Trofimenko, Evgeniya; Heuchan, Eleanor R.; Barszcz, Paula; Ciosi, Marc; Morgan, Joanne; Hafford-Tear, Nathaniel J.; Davidson, Alice E.; Massey, Thomas H.; Monckton, Darren G.; Jones, Lesley; Xenarios, Ioannis; Dion, Vincent 分享 收藏
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Genetic modifiers of Huntington disease differentially influence motor and cognitive domains 亨廷顿病的遗传修饰因子对运动和认知域的影响不同 Lee, Jong-Min; Huang, Yuan; Orth, Michael; Gillis, Tammy; Siciliano, Jacqueline; Hong, Eunpyo; Mysore, Jayalakshmi Srinidhi; Lucente, Diane; Wheeler, Vanessa C.; Seong, Ihn Sik; McLean, Zachariah L.; Mills, James A.; McAllister, Branduff; Lobanov, Sergey, V; Massey, Thomas H.; Ciosi, Marc; Landwehrmeyer, G. Bernhard; Paulsen, Jane S.; Dorsey, E. Ray; Shoulson, Ira; Sampaio, Cristina; Monckton, Darren G.; Kwak, Seung; Holmans, Peter; Jones, Lesley; MacDonald, Marcy E.; Long, Jeffrey D.; Gusella, James F. 分享 收藏
Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent Morales, Fernando; Corrales, Eyleen; Zhang, Baili; Vasquez, Melissa; Santamaria-Ulloa, Carolina; Quesada, Hazel; Sirito, Mario; Estecio, Marcos R.; Monckton, Darren G.; Krahe, Ralf 分享 收藏
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Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1 Wenninger, Stephan; Cumming, Sarah A.; Gutschmidt, Kristina; Okkersen, Kees; Jimenez-Moreno, Aura Cecilia; Daidj, Ferroudja; Lochmuller, Hanns; Hogarth, Fiona; Knoop, Hans; Bassez, Guillaume; Monckton, Darren G.; van Engelen, Baziel G. M.; Schoser, Benedikt 分享 收藏