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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024) Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina 分享 收藏
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele 分享 收藏
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High-resolution HLA genotyping in inclusion body myositis refines 8.1 ancestral haplotype association to DRB1*03:01:01 and highlights pathogenic role of arginine-74 of DRβ1 chain Slater, Nataliya; Sooda, Anuradha; Mcleish, Emily; Beer, Kelly; Brusch, Anna; Shakya, Rakesh; Bundell, Christine; James, Ian; Chopra, Abha; Mastaglia, Frank L.; Needham, Merrilee; Coudert, Jerome D. 分享 收藏
Elevated plasma sclerostin is associated with high brain amyloid-β load in cognitively normal older adults 认知正常的老年人血浆硬化蛋白升高与高脑淀粉样蛋白-β 负荷相关 Yuan, Jun; Pedrini, Steve; Thota, Rohith; Doecke, James; Chatterjee, Pratishtha; Sohrabi, Hamid R.; Teunissen, Charlotte E.; Verberk, Inge M. W.; Stoops, Erik; Vanderstichele, Hugo; Meloni, Bruno P.; Mitchell, Christopher; Rainey-Smith, Stephanie; Goozee, Kathryn; Tai, Andrew Chi Pang; Ashton, Nicholas; Zetterberg, Henrik; Blennow, Kaj; Gao, Junjie; Liu, Delin; Mastaglia, Frank; Inderjeeth, Charles; Zheng, Minghao; Martins, Ralph N. 分享 收藏
Uncovering the significance of expanded CD8+ large granular lymphocytes in inclusion body myositis: Insights into T cell phenotype and functional alterations, and disease severity 揭示扩增的CD8大颗粒淋巴细胞在包涵体肌炎中的意义: 对T细胞表型和功能改变以及疾病严重程度的见解 McLeish, Emily; Sooda, Anuradha; Slater, Nataliya; Kachigunda, Barbara; Beer, Kelly; Paramalingam, Shereen; Lamont, Phillipa J.; Chopra, Abha; Mastaglia, Frank Louis; Needham, Merrilee; Coudert, Jerome David 分享 收藏
Quality of life implications for elevated trait impulsivity in people with Parkinson's disease 帕金森病患者的生活质量对特质冲动的影响 Jeyadevan, Ashani; Bakeberg, Megan; Byrnes, Michelle; Kenna, Jade; McGregor, Sarah; Ghosh, Soumya; Horne, Malcom K.; Stell, Rick; Evans, Tess; Mastaglia, Frank L.; Anderton, Ryan 分享 收藏
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Changes in the Gut Microbiome and Predicted Functional Metabolic Effects in an Australian Parkinson's Disease Cohort Kenna, Jade E.; Chua, Eng Guan; Bakeberg, Megan; Tay, Alfred; McGregor, Sarah; Gorecki, Anastazja; Horne, Malcolm; Marshall, Barry; Mastaglia, Frank L.; Anderton, Ryan S. 分享 收藏
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Elevated HDL Levels Linked to Poorer Cognitive Ability in Females With Parkinson's Disease Bakeberg, Megan C.; Gorecki, Anastazja M.; Kenna, Jade E.; Jefferson, Alexa; Byrnes, Michelle; Ghosh, Soumya; Horne, Malcolm K.; McGregor, Sarah; Stell, Rick; Walters, Sue; Mastaglia, Frank L.; Anderton, Ryan S. 分享 收藏
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Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype 与肌萎缩侧索硬化风险和临床表型相关的新型STMN2变体 Theunissen, Frances; Anderton, Ryan S.; Mastaglia, Frank L.; Flynn, Loren L.; Winter, Samantha J.; James, Ian; Bedlack, Richard; Hodgetts, Stuart; Fletcher, Sue; Wilton, Steve D.; Laing, Nigel G.; MacShane, Mandi; Needham, Merrilee; Saunders, Ann; Mackay-Sim, Alan; Melamed, Ze'ev; Ravits, John; Cleveland, Don W.; Akkari, P. Anthony 分享 收藏
The TOMM40 '523' polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson's disease Bakeberg, Megan C.; Hoes, Madison E.; Gorecki, Anastazja M.; Theunissen, Frances; Pfaff, Abigail L.; Kenna, Jade E.; Plunkett, Kai; Koks, Sulev; Akkari, P. Anthony; Mastaglia, Frank L.; Anderton, Ryan S. 分享 收藏
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