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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (vol 13, 6901, 2022) SOD1-mediated ALS表型显示症状发作年龄与疾病持续时间之间的脱钩 (第13卷，6901，2022) Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A.; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E. 分享 收藏
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia 肌萎缩侧索硬化和额颞叶痴呆中致病性UBQLN2的海马聚集特征 Thumbadoo, Kyrah M.; Dieriks, Birger, V; Murray, Helen C.; Swanson, Molly E., V; Yoo, Ji Hun; Mehrabi, Nasim F.; Turner, Clinton; Dragunow, Michael; Faull, Richard L. M.; Curtis, Maurice A.; Siddique, Teepu; Shaw, Christopher E.; Newell, Kathy L.; Henden, Lyndal; Williams, Kelly L.; Nicholson, Garth A.; Scotter, Emma L. 分享 收藏
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration SOD1-mediated ALS表型显示症状发作年龄与疾病持续时间之间的脱钩 Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A.; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E. 分享 收藏
A form of muscular dystrophy associated with pathogenic variants in JAG2 (vol 108, pg 840, 2021) Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B. 分享 收藏
A form of muscular dystrophy associated with pathogenic variants in JAG2 Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B. 分享 收藏
Efficacy and long-term safety of CRISPR/Cas9 genome editing in the SOD1-linked mouse models of ALS Deng, Han-Xiang; Zhai, Hong; Shi, Yong; Liu, Guoxiang; Lowry, Jessica; Liu, Bin; Ryan, Eanna B.; Yan, Jianhua; Yang, Yi; Zhang, Nigel; Yang, Zhihua; Liu, Erdong; Ma, Yongchao C.; Siddique, Teepu 分享 收藏
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Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort Pytte, Julia; Flynn, Loren L.; Anderton, Ryan S.; Mastaglia, Frank L.; Theunissen, Frances; James, Ian; Pfaff, Abigail; Koks, Sulev; Saunders, Ann M.; Bedlack, Richard; Burns, Daniel K.; Lutz, Michael W.; Siddique, Nailah; Siddique, Teepu; Roses, Allen D.; Akkari, P. Anthony 分享 收藏
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function Wu, Josephine J.; Cai, Ashley; Greenslade, Jessie E.; Higgins, Nicole R.; Fan, Cong; Le, Nhat T. T.; Tatman, Micaela; Whiteley, Alexandra M.; Prado, Miguel A.; Dieriks, Birger, V; Curtis, Maurice A.; Shaw, Christopher E.; Siddique, Teepu; Faull, Richard L. M.; Scotter, Emma L.; Finley, Daniel; Monteiro, Mervyn J. 分享 收藏
Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity Ortega, Juan A.; Daley, Elizabeth L.; Kour, Sukhleen; Samani, Marisa; Tellez, Liana; Smith, Haley S.; Hall, Elizabeth A.; Esengul, Y. Taylan; Tsai, Yung-Hsu; Gendron, Tania F.; Donnelly, Christopher J.; Siddique, Teepu; Savas, Jeffrey N.; Pandey, Udai B.; Kiskinis, Evangelos 分享 收藏
Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis Pytte, Julia; Anderton, Ryan S.; Flynn, Loren; Theunissen, Frances; Jiang, Leanne; Pitout, Ianthe; James, Ian; Mastaglia, Frank L.; Saunders, Ann M.; Bedlack, Richard; Siddique, Teepu; Siddique, Nailah; Akkari, P. Anthony 分享 收藏
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Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis Lee, Sebum; Shang, Yulei; Redmond, Stephanie A.; Urisman, Anatoly; Tang, Amy A.; Li, Kathy H.; Burlingame, Alma L.; Pak, Ryan A.; Jovicic, Ana; Gitler, Aaron D.; Wang, Jinhua; Gray, Nathanael S.; Seeley, William W.; Siddique, Teepu; Bigio, Eileen H.; Lee, Virginia M. -Y.; Trojanowski, John Q.; Chan, Jonah R.; Huang, Eric J. 分享 收藏
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