未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice 与门诺家族中抑郁症相关的GPR156罕见变异会导致小鼠下丘脑核过度活跃和应激敏感性。 Millera, Bradley R.; Gonzaga-Jaureguic, Claudia; Brigattie, Karlla W.; de Jonga, Job; Breeseg, Robert S.; Ko, Seungyeon; Puffenbergere, Erik G.; Van Houtc, Cristopher; Younge, Millie; Lunah, Victor M.; Staplesc, Jeffrey; First, Michael B.; Gregoirea, Hilledna J.; Dworka, Andrew J.; Pefanisg, Evangelos; Mccarthyc, Shane; Brydges, Susannah; Rojasg, Jose; Yec, Bin; Stahlc, Eli; Di Gioiac, Silvio Alessandro; Hena, Rene; Elwoodi, Kevin; Rosoklijaa, Gorazd; Lic, Dadong; Mellisg, Scott; Careyi, David; Crollg, Susan D.; Overtonc, John D.; Macdonaldg, Lynn E.; Economidesc, Aris N.; Shuldinerc, Alan R.; Chuhmaf, Nao; Rayportf, Stephen; Aminj, Najaf; Kushnera, Steven A.; Haberg, Nicole Alessandri-; Markx, Sander; Strauss, Kevin A. 分享 收藏
分享 收藏
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants Dookwah, Michelle; Wagner, Shannon; Ishihara, Mayumi; Yu, Seok-Ho; Ulrichs, Heidi; Kulik, Michael; Zeltner, Nadja; Dalton, Stephen; Strauss, Kevin; Aoki, Kazuhiro; Steet, Richard; Tiemeyer, Michael 分享 收藏
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy Strauss, Kevin A.; Carson, Vincent J.; Bolettieri, Emilienne; Everett, Mariah; Bollinger, Ashton; Bowser, Lauren E.; Beiler, Keturah; Young, Millie; Edvardson, Simon; Fraenkel, Nitay; D'Amico, Adele; Bertini, Enrico; Lingappa, Lokesh; Chowdhury, Devyani; Lowes, Linda P.; Iammarino, Megan; Alfano, Lindsay N.; Brigatti, Karlla W. 分享 收藏
分享 收藏
Intravenous and Intrathecal Onasemnogene Abeparvovec Gene Therapy in Symptomatic and Presymptomatic Spinal Muscular Atrophy: Long-Term Follow-Up Study 静脉内和鞘内注射Onasemnogene Abeparvovec基因治疗症状和症状前脊髓性肌萎缩症: 长期随访研究 Darras, Basil; Mercuri, Eugenio; Strauss, Kevin; Day, John; Chien, Yin-Hsiu; Masson, Ricardo; Wigderson, Melissa; Alecu, Iulian; Ballarini, Nicolas; Mehl, Lesa; Marra, Jonathan; Connolly, Anne 分享 收藏
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial Strauss, Kevin A.; Farrar, Michelle A.; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R.; Servais, Laurent; McMillan, Hugh J.; Finkel, Richard S.; Swoboda, Kathryn J.; Kwon, Jennifer M.; Zaidman, Craig M.; Chiriboga, Claudia A.; Iannaccone, Susan T.; Krueger, Jena M.; Parsons, Julie A.; Shieh, Perry B.; Kavanagh, Sarah; Wigderson, Melissa; Tauscher-Wisniewski, Sitra; McGill, Bryan E.; Macek, Thomas A. 分享 收藏
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial Strauss, Kevin A.; Farrar, Michelle A.; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R.; Servais, Laurent; McMillan, Hugh J.; Finkel, Richard S.; Swoboda, Kathryn J.; Kwon, Jennifer M.; Zaidman, Craig M.; Chiriboga, Claudia A.; Iannaccone, Susan T.; Krueger, Jena M.; Parsons, Julie A.; Shieh, Perry B.; Kavanagh, Sarah; Tauscher-Wisniewski, Sitra; McGill, Bryan E.; Macek, Thomas A. 分享 收藏
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry Aronson, Sem J.; Junge, Norman; Trabelsi, Mediha; Kelmemi, Wided; Hubert, Aurelie; Brigatti, Karlla W.; Fox, Michael D.; de Knegt, Robert J.; Escher, Johanna C.; Ginocchio, Virginia M.; Iorio, Raffaele; Zhu, Yan; Ozcay, Figen; Rahim, Fakher; El-Shabrawi, Mortada H. F.; Shteyer, Eyal; Di Giorgio, Angelo; D'Antiga, Lorenzo; Mingozzi, Federico; Brunetti-Pierri, Nicola; Strauss, Kevin A.; Labrune, Philippe; Mrad, Ridha; Baumann, Ulrich; Beuers, Ulrich; Bosma, Piter J. 分享 收藏
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain Ferguson, Cole J.; Urso, Olivia; Bodrug, Tatyana; Gassaway, Brandon M.; Watson, Edmond R.; Prabu, Jesuraj R.; Lara-Gonzalez, Pablo; Martinez-Chacin, Raquel C.; Wu, Dennis Y.; Brigatti, Karlla W.; Puffenberger, Erik G.; Taylor, Cora M.; Haas-Givler, Barbara; Jinks, Robert N.; Strauss, Kevin A.; Desai, Arshad; Gabel, Harrison W.; Gygi, Steven P.; Schulman, Brenda A.; Brown, Nicholas G.; Bonni, Azad 分享 收藏
Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy (vol 44, pg 1109, 2021) Day, John W.; Mendell, Jerry R.; Mercuri, Eugenio; Finkel, Richard S.; Strauss, Kevin A.; Kleyn, Aaron; Tauscher-Wisniewski, Sitra; Tukov, Francis Fonyuy; Reyna, Sandra P.; Chand, Deepa H. 分享 收藏
Metabolic Control and Ideal Outcomes in Liver Transplantation for Maple Syrup Urine Disease Ewing, Caroline B.; Soltys, Kyle A.; Strauss, Kevin A.; Sindhi, Rakesh; Vockley, Jerry; McKiernan, Patrick; Squires, Robert H.; Bond, Geoffrey; Ganoza, Armando; Khanna, Ajai; Mazariegos, George, V; Squires, James E. 分享 收藏
Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder de Jong, Job O.; Llapashtica, Ceyda; Genestine, Matthieu; Strauss, Kevin; Provenzano, Frank; Sun, Yan; Zhu, Huixiang; Cortese, Giuseppe P.; Brundu, Francesco; Brigatti, Karlla W.; Corneo, Barbara; Migliori, Bianca; Tomer, Raju; Kushner, Steven A.; Kellendonk, Christoph; Javitch, Jonathan A.; Xu, Bin; Markx, Sander 分享 收藏
Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy Onasemnogene Abeparvovec疗法的临床试验和上市后安全性 Day, John W.; Mendell, Jerry R.; Mercuri, Eugenio; Finkel, Richard S.; Strauss, Kevin A.; Kleyn, Aaron; Tauscher-Wisniewski, Sitra; Tukov, Francis Fonyuy; Reyna, Sandra P.; Chand, Deepa H. 分享 收藏
分享 收藏
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia Wenger, Olivia; Brown, Miraides; Smith, Brandon; Chowdhury, Devyani; Crosby, Andrew H.; Baple, Emma L.; Yoder, Mark; Laxen, William; Tortorelli, Silvia; Strauss, Kevin A. 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
