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Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder 游离唾液酸贮积症的临床与遗传学特征 Wolfenson, Zoe; Grois, Gabriella; Hailemeskel, Ruth F.; Sabaii, Marla; Huryn, Laryssa A.; Zein, Wadih M.; Lehky, Tanya; Thurm, Audrey; Joseph, Lisa; Baker, Eva H.; Vezina, Gilbert; Hyland, Keith; Pollard, Laura; Macnamara, Ellen; Gropman, Andrea; Malicdan, May C.; Gahl, William A.; Adams, David R.; Wolfe, Lynne 分享 收藏
AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial AAV9基因疗法在II型GM1神经节苷脂贮积症中的应用——一项I-II期临床试验 Lewis, Connor J.; D'souza, Precilla; Johnston, Jean M.; Acosta, Maria T.; Farmer, Cristan; Baker, Eva H.; Crowell, Anna; Mojica, Yoliann; Ashraf, Sumaiya; Joseph, Lisa; Vezina, Gilbert; Quezado, Zenaide; Yousef, Muhammad H.; Vardar, Zeynep; Shazeeb, Mohammed Salman; Corti, Manuela; Blackwood, Meghan; Coleman, Kirsten; Batista, Rita; Thurm, Audrey; De Boever, Erika; Gahl, William A.; Byrne, Barry J.; Flotte, Terence R.; Jiang, Xuntian; Gross, Amanda L.; Keeler, Allison M.; Gray-Edwards, Heather; Martin, Douglas R.; Sena-Esteves, Miguel; Tifft, Cynthia J. 分享 收藏
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Building a growing genomic repository for maternal and fetal health through the PING Consortium Abdelmalek, Clara M.; Singh, Shriya; Fasil, Blain; Horvath, Allison R.; Mulkey, Sarah B.; Cure, Carlos; Campos, Maribel; Cavalcanti, Denise P.; Tong, Van T.; Mercado, Marcela; Daza, Marcela; Benavides, Monica Marcela; Acosta, Jacqueline; Gilboa, Suzanne; Valencia, Diana; Sancken, Christina L.; Newton, Suzanne; Scalabrin, Deolinda M. F.; Mussi-Pinhata, Marisa M.; Vasconcelos, Zilton; Chakhtoura, Nahida; Moye, Jack; Leslie, Elizabeth J.; Bulas, Dorothy; Vezina, Gilbert; Marques, Fernanda J. P.; Leyser, Marcio; Del Campo, Miguel; Vilain, Eric; Debiasi, Roberta L.; Wang, Tongguang; Nath, Avindra; Haydar, Tarik; Muenke, Max; Mansour, Tamer A.; du Plessis, Adre J.; Murray, Jeffrey C.; Cordero, Jose F.; Kousa, Youssef A. 分享 收藏
Feasibility and success of a non-sedated brain MRI training protocol in 7-year-old children from rural and semi-rural Colombia Corn, Elizabeth; Andringa-Seed, Regan; Williams, Meagan E.; Arroyave-Wessel, Margarita; Tarud, Raul; Vezina, Gilbert; Podolsky, Robert H.; Kapse, Kushal; Limperopoulos, Catherine; Berl, Madison M.; Cure, Carlos; Mulkey, Sarah B. 分享 收藏
GM1 gangliosidosis type II: Results of a 10-year prospective study D'Souza, Precilla; Farmer, Cristan; Johnston, Jean M.; Han, Sangwoo T.; Adams, David; Hartman, Adam L.; Zein, Wadih; Huryn, Laryssa A.; Solomon, Beth; King, Kelly; Jordan, Christopher P.; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E.; Algarin, Yoliann Mojica; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Debra S.; Brooks, Brian P.; Acosta, Maria T.; Baker, Eva H.; Vezina, Gilbert; Thurm, Audrey; Tifft, Cynthia J. 分享 收藏
Neurodevelopmental Outcomes of Preschoolers with Antenatal Zika Virus Exposure Born in the United States 在美国出生的产前Zika病毒暴露的学龄前儿童的神经发育结果 Mulkey, Sarah B.; Corn, Elizabeth; Williams, Meagan E.; Ansusinha, Emily; Podolsky, Robert H.; Arroyave-Wessel, Margarita; Vezina, Gilbert; Peyton, Colleen; Msall, Michael E.; DeBiasi, Roberta L. 分享 收藏
Neurodevelopmental Outcomes of Normocephalic Colombian Children with Antenatal Zika Virus Exposure at School Entry 产前Zika病毒暴露的正常头颅哥伦比亚儿童的神经发育结果 Mulkey, Sarah B.; Corn, Elizabeth; Williams, Meagan E.; Peyton, Colleen; Andringa-Seed, Regan; Arroyave-Wessel, Margarita; Vezina, Gilbert; Bulas, Dorothy I.; Podolsky, Robert H.; Msall, Michael E.; Cure, Carlos 分享 收藏
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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis Frost, F. Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G.; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M.; Ferreira, Elise A.; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T.; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I.; Steinbach, Peter J.; Huang, Yan; Pusey, Barbara N.; Passemard, Sandrine; Levy, Jonathan; Drunat, Severine; Vincent, Marie; Guet, Agnes; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A.; Murphy, Jennifer L.; Lupski, James R.; Vezina, Gilbert; Macnamara, Ellen F.; Adams, David R.; Acosta, Maria T.; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V. 分享 收藏
Plasma Biomarkers of Evolving Encephalopathy and Brain Injury in Neonates with Hypoxic-Ischemic Encephalopathy Li, Ruoying; Lee, Jennifer K.; Govindan, Rathinaswamy B.; Graham, Ernest M.; Everett, Allen D.; Perin, Jamie; Vezina, Gilbert; Tekes, Aylin; Chen, May W.; Northington, Frances; Parkinson, Charlamaine; O'Kane, Alexandra; McGowan, Meaghan; Krein, Colleen; Al-Shargabi, Tareq; Chang, Taeun; Massaro, An N. 分享 收藏
Impaired in vivo feto-placental development is associated with neonatal neurobehavioral outcomes Andescavage, Nickie; Bullen, Theresa; Liggett, Melissa; Barnett, Scott D.; Kapse, Anushree; Kapse, Kushal; Ahmadzia, Homa; Vezina, Gilbert; Quistorff, Jessica; Lopez, Catherine; DuPlessis, Adre; Limperopoulos, Catherine 分享 收藏
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Maternal psychological distress during the COVID-19 pandemic and structural changes of the human fetal brain Lu, Yuan-Chiao; Andescavage, Nickie; Wu, Yao; Kapse, Kushal; Andersen, Nicole R.; Quistorff, Jessica; Saeed, Haleema; Lopez, Catherine; Henderson, Diedtra; Barnett, Scott D.; Vezina, Gilbert; Wessel, David; du Plessis, Adre; Limperopoulos, Catherine 分享 收藏
ADC Histogram Analysis of Pediatric Low-Grade Glioma Treated with Selumetinib: A Report from the Pediatric Brain Tumor Consortium Vajapeyam, S.; Brown, D.; Ziaei, A.; Wu, S.; Vezina, G.; Stern, J. S.; Panigrahy, A.; Patay, Z.; Tamrazi, B.; Jones, J. Y.; Haque, S. S.; Enterline, D. S.; Cha, S.; Jones, B., V; Yeom, K. W.; Onar-Thomas, A.; Dunkel, I. J.; Fouladi, M.; Fangusaro, J. R.; Poussaint, T. Y. 分享 收藏
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