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Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system (vol 14, 570, 2024) Harripaul, Ricardo; Morini, Elisabetta; Salani, Monica; Logan, Emily; Kirchner, Emily; Bolduc, Jessica; Chekuri, Anil; Currall, Benjamin; Yadav, Rachita; Erdin, Serkan; Talkowski, Michael E.; Gao, Dadi; Slaugenhaupt, Susan 分享 收藏
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat Mclean, Zachariah L.; Gao, Dadi; Correia, Kevin; Roy, Jennie C. L.; Shibata, Shota; Farnum, Iris N.; Valdepenas-Mellor, Zoe; Kovalenko, Marina; Rapuru, Manasa; Morini, Elisabetta; Ruliera, Jayla; Gillis, Tammy; Lucente, Diane; Kleinstiver, Benjamin P.; Lee, Jong-Min; Macdonald, Marcy E.; Wheeler, Vanessa C.; Mouro Pinto, Ricardo; Gusella, James F. 分享 收藏
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models (vol 109, pg 1789, 2022) Tai, Derek J. C.; Razaz, Parisa; Erdin, Serkan; Gao, Dadi; Wang, Jennifer; Nuttle, Xander; de Esch, Celine E.; Collins, Ryan L.; Currall, Benjamin B.; O'Keefe, Kathryn; Burt, Nicholas D.; Yadav, Rachita; Wang, Lily; Mohajeri, Kiana; Aneichyk, Tatsiana; Ragavendran, Ashok; Stortchevoi, Alexei; Morini, Elisabetta; Ma, Weiyuan; Lucente, Diane; Hastie, Alex; Kelleher, Raymond J.; Perlis, Roy H.; Talkowski, Michael E.; Gusella, James F. 分享 收藏
Evaluating adherence, tolerability and safety of oral calcium citrate in elderly osteopenic subjects: a real-life non-interventional, prospective, multicenter study Rondanelli, Mariangela; Minisola, Salvatore; Barale, Marco; Barbaro, Daniele; Mansueto, Francesca; Battaglia, Santina; Bonaccorsi, Gloria; Caliri, Santina; Cavioni, Alessandro; Colangelo, Luciano; Corbetta, Sabrina; Coretti, Federica; Dito, Giorgia; Gavioli, Valentina; Ghigo, Ezio; Giannattasio, Raffaele; Lapi, Paola; Maiorana, Blas; Marra, Costanza; Mazzantini, Maurizio; Morini, Elisabetta; Nannipieri, Fabrizio; Nuzzo, Vincenzo; Parri, Fabiana; Perna, Simone; Santori, Rachele; Procopio, Massimo 分享 收藏
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Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia Morini, Elisabetta; Chekuri, Anil; Logan, Emily M.; Bolduc, Jessica M.; Kirchner, Emily G.; Salani, Monica; Krauson, Aram J.; Narasimhan, Jana; Gabbeta, Vijayalakshmi; Grover, Shivani; Dakka, Amal; Mollin, Anna; Jung, Stephen P.; Zhao, Xin; Zhang, Nanjing; Zhang, Sophie; Arnold, Michael; Woll, Matthew G.; Naryshkin, Nikolai A.; Weetall, Marla; Slaugenhaupt, Susan A. 分享 收藏
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models Tai, Derek J. C.; Razaz, Parisa; Erdin, Serkan; Gao, Dadi; Wang, Jennifer; Nuttle, Xander; De Esch, Celine E.; Collins, Ryan L.; Currall, Benjamin B.; O'Keefe, Kathryn; Burt, Nicholas D.; Yadav, Rachita; Wang, Lily; Mohajeri, Kiana; Aneichyk, Tatsiana; Ragavendran, Ashok; Stortchevoi, Alexei; Morini, Elisabetta; Ma, Weiyuan; Lucente, Diane; Hastie, Alex; Kelleher, Raymond J.; Perlis, Roy H.; Talkowski, Michael E.; Gusella, James F. 分享 收藏
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA Romano, Giulia; Riccardi, Federico; Bussani, Erica; Vodret, Simone; Licastro, Danilo; Ragone, Isabella; Ronzitti, Giuseppe; Morini, Elisabetta; Slaugenhaupt, Susan A.; Pagani, Franco 分享 收藏
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage Morini, Elisabetta; Gao, Dadi; Logan, Emily M.; Salani, Monica; Krauson, Aram J.; Chekuri, Anil; Chen, Yei-Tsung; Ragavendran, Ashok; Chakravarty, Probir; Erdin, Serkan; Stortchevoi, Alexei; Svejstrup, Jesper Q.; Talkowski, Michael E.; Slaugenhaupt, Susan A. 分享 收藏
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A deep learning approach to identify gene targets of a therapeutic for human splicing disorders Gao, Dadi; Morini, Elisabetta; Salani, Monica; Krauson, Aram J.; Chekuri, Anil; Sharma, Neeraj; Ragavendran, Ashok; Erdin, Serkan; Logan, Emily M.; Li, Wencheng; Dakka, Amal; Narasimhan, Jana; Zhao, Xin; Naryshkin, Nikolai; Trotta, Christopher R.; Effenberger, Kerstin A.; Woll, Matthew G.; Gabbeta, Vijayalakshmi; Karp, Gary; Yu, Yong; Johnson, Graham; Paquette, William D.; Cutting, Garry R.; Talkowski, Michael E.; Slaugenhaupt, Susan A. 分享 收藏
MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV DeRosa, Samantha; Salani, Monica; Smith, Sierra; Sangster, Madison; Miller-Browne, Victoria; Wassmer, Sarah; Xiao, Ru; Vandenberghe, Luk; Slaugenhaupt, Susan; Misko, Albert; Grishchuk, Yulia 分享 收藏
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Primary cilia defects causing mitral valve prolapse Toomer, Katelynn A.; Yu, Mengyao; Fulmer, Diana; Guo, Lilong; Moore, Kelsey S.; Moore, Reece; Drayton, Ka'la D.; Glover, Janiece; Peterson, Neal; Ramos-Ortiz, Sandra; Drohan, Alex; Catching, Breiona J.; Stairley, Rebecca; Wessels, Andy; Lipschutz, Joshua H.; Delling, Francesca N.; Jeunemaitre, Xavier; Dina, Christian; Collins, Ryan L.; Brand, Harrison; Talkowski, Michael E.; del Monte, Federica; Mukherjee, Rupak; Awgulewitsch, Alexander; Body, Simon; Hardiman, Gary; Hazard, E. Starr; da Silveira, Willian A.; Wang, Baolin; Leyne, Maire; Durst, Ronen; Markwald, Roger R.; Le Scouarnec, Solena; Hagege, Albert; Le Tourneau, Thierry; Kohl, Peter; Rog-Zielinska, Eva A.; Ellinor, Patrick T.; Levine, Robert A.; Milan, David J.; Schott, Jean-Jacques; Bouatia-Naji, Nabila; Slaugenhaupt, Susan A.; Norris, Russell A. 分享 收藏
Genome-Wide Association Study-Driven Gene-Set Analyses, Genetic, and Functional Follow-Up Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse Yu, Mengyao; Georges, Adrien; Tucker, Nathan R.; Kyryachenko, Sergiy; Toomer, Katelyn; Schott, Jean-Jacques; Delling, Francesca N.; Fernandez-Friera, Leticia; Solis, Jorge; Ellinor, Patrick T.; Levine, Robert A.; Slaugenhaupt, Susan A.; Hagege, Albert A.; Dina, Christian; Jeunemaitre, Xavier; Milan, David J.; Norris, Russell A.; Bouatia-Naji, Nabila 分享 收藏
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