未登录 Translating genetic and functional data into clinical practice: a series of 223 families with myotonia 将遗传和功能数据转化为临床实践: 一系列223个肌强直家族 Suetterlin, Karen; Matthews, Emma; Sud, Richa; McCall, Samuel; Fialho, Doreen; Burge, James; Jayaseelan, Dipa; Haworth, Andrea; Sweeney, Mary G.; Kullmann, Dimitri M.; Schorge, Stephanie; Hanna, Michael G.; Mannikko, Roope 分享 收藏
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair Horga, Alejandro; Woodward, Catherine E.; Mills, Alberto; Parees, Isabel; Hargreaves, Iain P.; Brown, Ruth M.; Bugiardini, Enrico; Brooks, Tony; Manole, Andreea; Remzova, Elena; Rahman, Shamima; Reilly, Mary M.; Houlden, Henry; Sweeney, Mary G.; Brown, Garry K.; Polke, James M.; Gago, Federico; Parton, Matthew J.; Pitceathly, Robert D. S.; Hanna, Michael G. 分享 收藏
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 脊髓小脑共济失调的遗传学和临床表现的复杂性17 Nethisinghe, Suran; Lim, Wei N.; Ging, Heather; Zeitlberger, Anna; Abeti, Rosella; Pemble, Sally; Sweeney, Mary G.; Labrum, Robyn; Cervera, Charisse; Houlden, Henry; Rosser, Elisabeth; Limousin, Patricia; Kennedy, Angus; Lunn, Michael P.; Bhatia, Kailash P.; Wood, Nicholas W.; Hardy, John; Polke, James M.; Veneziano, Liana; Brusco, Alfredo; Davis, Mary B.; Giunti, Paola 分享 收藏
PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption Nethisinghe, Suran; Pigazzini, Maria Lucia; Pemble, Sally; Sweeney, Mary G.; Labrum, Robyn; Manso, Katarina; Moore, David; Warner, Jon; Davis, Mary B.; Giunti, Paola 分享 收藏
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease Bugiardini, Enrico; Poole, Olivia V.; Manole, Andreea; Pittman, Alan M.; Horga, Alejandro; Hargreaves, Iain; Woodward, Cathy E.; Sweeney, Mary G.; Holton, Janice L.; Taanman, Jan-Willem; Plant, Gordon T.; Poulton, Joanna; Zeviani, Massimo; Ghezzi, Daniele; Taylor, John; Smith, Conrad; Fratter, Carl; Kanikannan, Meena A.; Paramasivam, Arumugam; Thangaraj, Kumarasamy; Spinazzola, Antonella; Holt, Ian J.; Houlden, Henry; Hanna, Michael G.; Pitceathly, Robert D. S. 分享 收藏
DNA REPAIR PATHWAYS AS A COMMON GENETIC MECHANISM MODULATING THE AGE AT ONSET IN POLYGLUTAMINE DISEASES Bettencourt, Conceicao; Moss, Davina Hensman; Flower, Michael; Wiethoff, Sarah; Brice, Alexis; Goizet, Cyril; Stevanin, Giovanni; Koutsis, Georgios; Karadima, Georgia; Panas, Marios; Yescas-Gomez, Petra; Esmeralda Garcia-Velazquez, Lizbeth; Elisa Alonso-Vilatela, Maria; Lima, Manuela; Raposo, Mafalda; Traynor, Bryan; Sweeney, Mary; Wood, Nicholas; Giunti, Paola; Durr, Alexandra; Holmans, Peter; Houlden, Henry; Tabrizi, Sarah J.; Jones, Lesley 分享 收藏
DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases Bettencourt, Conceicao; Hensman-Moss, Davina; Flower, Michael; Wiethoff, Sarah; Brice, Alexis; Goizet, Cyril; Stevanin, Giovanni; Koutsis, Georgios; Karadima, Georgia; Panas, Marios; Yescas-Gomes, Petra; Esmeralda Garcia-Velazquez, Lizbeth; Elisa Alonso-Vilatela, Maria; Lima, Manuela; Raposo, Mafalda; Traynor, Bryan; Sweeney, Mary; Wood, Nicholas; Giunti, Paola; Durr, Alexandra; Holmans, Peter; Houlden, Henry; Tabrizi, Sarah J.; Jones, Lesley 分享 收藏
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy Rebelo, Adriana P.; Abrams, Alexander J.; Cottenie, Ellen; Horga, Alejandro; Gonzalez, Michael; Bis, Dana M.; Sanchez-Mejias, Avencia; Pinto, Milena; Buglo, Elena; Markel, Kasey; Prince, Jeffrey; Laura, Matilde; Houlden, Henry; Blake, Julian; Woodward, Cathy; Sweeney, Mary G.; Holton, Janice L.; Hanna, Michael; Dallman, Julia E.; Auer-Grumbach, Michaela; Reilly, Mary M.; Zuchner, Stephan 分享 收藏
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2 Tomlinson, Susan E.; Tan, S. Veronica; Burke, David; Labrum, Robyn W.; Haworth, Andrea; Gibbons, Vaneesha S.; Sweeney, Mary G.; Griggs, Robert C.; Kullmann, Dimitri M.; Bostock, Hugh; Hanna, Michael G. 分享 收藏
MFN2 deletion of exons 7 and 8: founder mutation in the UK population Carr, Aisling S.; Polke, James M.; Wilson, Jacob; Pelayo-Negro, Ana L.; Laura, Matilde; Nanji, Tina; Holt, James; Vaughan, Jennifer; Rankin, Julia; Sweeney, Mary G.; Blake, Julian; Houlden, Henry; Reilly, Mary M. 分享 收藏
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop van der Westhuizen, Francois H.; Sinxadi, Phumla Z.; Dandara, Collet; Smuts, Izelle; Riordan, Gillian; Meldau, Surita; Malik, Afshan N.; Sweeney, Mary G.; Tsai, Yuchia; Towers, Gordon W.; Louw, Roan; Gorman, Grainne S.; Payne, Brendan A.; Soodyall, Himla; Pepper, Michael S.; Elson, Joanna L. 分享 收藏
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism (vol 36, 1221.e1, 2015) Schottlaender, Lucia V.; Polke, James M.; Ling, Helen; MacDoanld, Nicola D.; Tucci, Arianna; Nanji, Tina; Pittman, Alan; de Silva, Rohan; Holton, Janice L.; Revesz, Tamas; Sweeney, Mary G.; Singleton, Andy B.; Lees, Andrew J.; Bhatia, Kailash P.; Houlden, Henry 分享 收藏
Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis 下一代测序技术作为肌萎缩侧索硬化诊断工具的研究 Morgan, Sarah; Shoai, Maryam; Fratta, Pietro; Sidle, Katie; Orrell, Richard; Sweeney, Mary G.; Shatunov, Aleksey; Sproviero, William; Jones, Ashley; Al-Chalabi, Ammar; Malaspina, Andrea; Houlden, Henry; Hardy, John; Pittman, Alan 分享 收藏
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients Xi, Zhengrui; Zhang, Ming; Bruni, Amalia C.; Maletta, Raffaele G.; Colao, Rosanna; Fratta, Pietro; Polke, James M.; Sweeney, Mary G.; Mudanohwo, Ese; Nacmias, Benedetta; Sorbi, Sandro; Tartaglia, Maria Carmela; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Galimberti, Daniela; Surace, Ezequiel I.; McGoldrick, Philip; McKeever, Paul; Moreno, Danielle; Sato, Christine; Liang, Yan; Keith, Julia; Zinman, Lorne; Robertson, Janice; Rogaeva, Ekaterina 分享 收藏
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism Schottlaender, Lucia V.; Polke, James M.; Ling, Helen; MacDoanld, Nicola D.; Tucci, Arianna; Nanji, Tina; Pittman, Alan; de Silva, Rohan; Holton, Janice L.; Revesz, Tamas; Sweeney, Mary G.; Singleton, Andy B.; Lees, Andrew J.; Bhatia, Kailash P.; Houlden, Henry 分享 收藏
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion Fratta, Pietro; Polke, James M.; Newcombe, Jia; Mizielinska, Sarah; Lashley, Tammaryn; Poulter, Mark; Beck, Jon; Preza, Elisavet; Devoy, Anny; Sidle, Katie; Howard, Robin; Malaspina, Andrea; Orrell, Richard W.; Clarke, Jan; Lu, Ching-Hua; Mok, Kin; Collins, Toby; Shoaii, Maryam; Nanji, Tina; Wray, Selina; Adamson, Gary; Pittman, Alan; Renton, Alan E.; Traynor, Bryan J.; Sweeney, Mary G.; Revesz, Tamas; Houlden, Henry; Mead, Simon; Isaacs, Adrian M.; Fisher, Elizabeth M. C. 分享 收藏
Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Rasic, Vedrana Milic; Baets, Jonathan; Bartsakoulia, Marina; Ploski, Rafal; Teterycz, Pawel; Nikolic, Milos; Quinlivan, Ros; Laura, Matilde; Sweeney, Mary G.; Taroni, Franco; Lunn, Michael P.; Moroni, Isabella; Gonzalez, Michael; Hanna, Michael G.; Bettencourt, Conceicao; Chabrol, Elodie; Franke, Andre; von Au, Katja; Schilhabel, Markus; Kabzinska, Dagmara; Hausmanowa-Petrusewicz, Irena; Brandner, Sebastian; Lim, Siew Choo; Song, Haiwei; Choi, Byung-Ok; Horvath, Rita; Chung, Ki-Wha; Zuchner, Stephan; Pareyson, Davide; Harms, Matthew; Reilly, Mary M.; Houlden, Henry 分享 收藏
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia Horga, Alejandro; Pitceathly, Robert D. S.; Blake, Julian C.; Woodward, Catherine E.; Zapater, Pedro; Fratter, Carl; Mudanohwo, Ese E.; Plant, Gordon T.; Houlden, Henry; Sweeney, Mary G.; Hanna, Michael G.; Reilly, Mary M. 分享 收藏
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Extended phenotypic spectrum of KIF5A mutations Liu, Yo-Tsen; Laura, Matilde; Hersheson, Joshua; Horga, Alejandro; Jaunmuktane, Zane; Brandner, Sebastian; Pittman, Alan; Hughes, Deborah; Polke, James M.; Sweeney, Mary G.; Proukakis, Christos; Janssen, John C.; Auer-Grumbach, Michaela; Zuchner, Stephan; Shields, Kevin G.; Reilly, Mary M.; Houlden, Henry 分享 收藏
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