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Carboxypeptidase D deficiency causes hearing loss amenable to treatment Ramzan, Memoona; Ortiz-Vega, Natalie; Zafeer, Mohammad Faraz; Lobato, Amanda G.; Atik, Tahir; Abad, Clemer; Vadgama, Nirmal; Duman, Duygu; Bozan, Nazim; Durmusalioglu, Enise Avci; Greene, Sunny; Guo, Shengru; Tokgoz-Yilmaz, Suna; Yekeduz, Merve Koc; Eminoglu, Fatma Tuba; Aydin, Mehmet; Seyhan, Serhat; Karakikes, Ioannis; Camarena, Vladimir; Robayo, Maria Camila; Canic, Tijana; Bademci, Guney; Wang, Gaofeng; Farooq, Amjad; Joiner, Mei-ling; Walz, Katherina; Eberl, Daniel F.; Nasir, Jamal; Zhai, R. Grace; Tekin, Mustafa Share Save
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Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) Ellwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf Share Save
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Specific binding of Hsp27 and phosphorylated Tau mitigates abnormal Tau aggregation- induced pathology Zhang, Shengnan; Zhu, Yi; Lu, Jinxia; Liu, Zhenying; Lobato, Amanda G.; Zeng, Wen; Liu, Jiaqi; Qiang, Jiali; Zeng, Shuyi; Zhang, Yaoyang; Liu, Cong; Liu, Jun; He, Zhuohao; Zhai, R. Grace; Li, Dan Share Save
Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells Tao, Xianzun; Zhu, Yi; Diaz-Perez, Zoraida; Yu, Seok-Ho; Foley, Jackson R.; Stewart, Tracy Murray; Casero, Robert A., Jr.; Steet, Richard; Zhai, R. Grace Share Save
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Exposure to Aerosolized Algal Toxins in South Florida Increases Short- and Long-Term Health Risk in Drosophila Model of Aging Hu, Jiaming; Liu, Jiaqi; Zhu, Yi; Diaz-Perez, Zoraida; Sheridan, Michael; Royer, Haley; Leibensperger, Raymond, III; Maizel, Daniela; Brand, Larry; Popendorf, Kimberly J.; Gaston, Cassandra J.; Zhai, R. Grace Share Save
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (vol 16, pg 613, 2020) Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; Isasi, Rosario; Khan, Alaa; Laura, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schule, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan Share Save
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; Isasi, Rosario; Khan, Alaa; Laura, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schuele, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan Share Save
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