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Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health 儿童脆性骨症的精神共病与治疗模式：一项关于精神健康问题的系统综述 Morales, Julia M.; Villar, Camille F.; Varman, Beatriz; Colombo, Gianna M.; Li, Danqi; Sadek, Sarah J.; Robinson, Marie-eve; Murali, Chaya N.; Ayers, Kara; Gomez, Jocelyn; Lee, Brendan; Sutton, V. Reid; Storch, Eric A.; Wiese, Andrew D. 分享 收藏
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study X连锁肌酸转运蛋白缺乏症男性患者的纵向特征分析：多年观察研究的最终结果 Miller, Judith S.; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A.; Becker, Lindsey; Bennett, Amanda E.; Berry, Leandra N.; Berry-Kravis, Elizabeth M.; Bruchey, Aleksandra; Byars, Anna W.; Cimms, Tricia; Cecil, Kim M.; Covello, Maxine; Cubit, Laura S.; Das, Tanvi; Davis, Robert J.; Drye, Madison; Ficicioglu, Can; Fulton, John B.; Goin-Kochel, Robin P.; Guthrie, Whitney; Hallinan, Barbara E.; Hannah-Shmouni, Fady; Gustafson, Kathryn E.; Koeberl, Dwight D.; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D.; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A.; Stone, Caitlin; Sullivan, Nancy R.; Sutton, V. Reid; Thomas, Rebecca P.; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey 分享 收藏
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Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study Guffon, Nathalie; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica A.; Jayakar, Parul; Lund, Allan M.; Tal, Galit; Garcia-Ortiz, Jose Elias; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara S.; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian B.; Scarpa, Maurizio; Sutton, V. Reid; Muschol, Nicole 分享 收藏
Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study Settrusumab用于治疗成骨不全症: 2b期小行星研究的12个月结果 Glorieux, Francis H.; Langdahl, Bente; Chapurlat, Roland; De Beur, Suzanne Jan; Sutton, Vernon Reid; Poole, Kenneth E. S.; Dahir, Kathryn M.; Orwoll, Eric S.; Willie, Bettina M.; Mikolajewicz, Nicholas; Zimmermann, Elizabeth; Hosseinitabatabaei, Seyedmahdi; Ominsky, Michael S.; Saville, Chris; Clancy, James; Macinnon, Alastair; Mistry, Arun; Javaid, Muhammad K. 分享 收藏
IT translates: An update on the ARCT-810 mRNA therapy for OTC deficiency McNutt, Markey; Vockley, Jerry; Zori, Roberto; Basel, Donald; Breilyn, Margo; Longo, Nicola; Sutton, Vernon; Berry, Susan; Chivukula, Pad; Crowley, Constance; Geller, David 分享 收藏
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A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis Muschol, Nicole M.; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica; Jayakar, Parul; Lund, Allan; Tal, Galit; Garcia, Jose E.; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian; Scarpa, Maurizio; Sutton, V. Reid; Guffon, Nathalie 分享 收藏
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling Marom, Ronit; Zhang, Bo; Washington, Megan E.; Song, I-Wen; Burrage, Lindsay C.; Rossi, Vittoria C.; Berrier, Ava S.; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L.; Chen, Jian; Baldridge, Dustin; Silverman, Gary A.; Sutton, V. Reid; Rosenfeld, Jill A.; Tran, Alyssa A.; Hicks, M. John; Murdock, David R.; Dai, Hongzheng; Weis, Maryann; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C.; Lee, Brendan H. 分享 收藏
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De novo variants in FRMDS are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A.; Jankovic, Joseph; Sutton, V. Reid; Bartley, James A.; Wang, Xueying; Rosenfeld, Jill A.; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F.; Dai, Yuwei; Bellen, Hugo J. 分享 收藏
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban-Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R. 分享 收藏
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Decio; Cano, Talyta M.; Jorge, Alexander A. L.; Kim, Chong A.; Honjo, Rachel; Bertola, Debora R.; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gulay C.; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P.; Pogue, Robert; Pereira, Rinaldo W.; Otto, Paulo A.; Gibbs, Richard A.; Ali, Bassam R.; Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R.; Vianna-Morgante, Angela M.; Carvalho, Claudia M. B.; Mazzeu, Juliana F. 分享 收藏
Targeting TGF-β for treatment of osteogenesis imperfecta Song, I-Wen; Nagamani, Sandesh Cs; Nguyen, Dianne; Grafe, Ingo; Sutton, Vernon Reid; Gannon, Francis H.; Munivez, Elda; Jiang, Ming-Ming; Tran, Alyssa; Wallace, Maegen; Esposito, Paul; Musaad, Salma; Strudthoff, Elizabeth; McGuire, Sharon; Thornton, Michele; Shenava, Vinitha; Rosenfeld, Scott; Huang, Shixia; Shypailo, Roman; Orwoll, Eric; Lee, Brendan 分享 收藏
Interim results of the Vigilan observational study: clinical characteristics of creatine transporter deficiency Miller, Judith; Bianconi, Simona; Anselm, Irina; Barshop, Bruce; Berry-Kravis, Elizabeth; Cecil, Kim; Hannah-Shmouni, Fady; Koeberl, Dwight; Longo, Nicola; Mercimek-Andrews, Saadet; Porter, Forbes; Sutton, V. Reid; Ayalon, Gai; Blair, Susan; Brandabur, Melanie; Rees, Linda; Zhang, Lin; Thurm, Audrey 分享 收藏
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