日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results

NNZ-2591治疗Phelan-McDermid综合征患儿及青少年:单组、开放标签、II期临床试验结果

Neumeyer, Ann M; Srivastava, Siddharth; Holder, J Lloyd; Milad, Mark A; Squires, Liza; Jones, Nancy Elizabeth; Glass, Larry; Berry-Kravis, Elizabeth

Pharmacological treatment in autism: a proposal for guidelines on common co-occurring psychiatric symptoms

自闭症的药物治疗:关于常见伴随精神症状的指导原则建议

Manter, Mariah A; Birtwell, Kirstin B; Bath, James; Friedman, Nora D B; Keary, Christopher J; Neumeyer, Ann M; Palumbo, Michelle L; Thom, Robyn P; Stonestreet, Emily; Brooks, Hannah; Dakin, Kelly; Hooker, Jacob M; McDougle, Christopher J

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

A protocol for measuring sleep at home in children with autism using EEG headbands

使用脑电图头带测量自闭症儿童居家睡眠的方案

Hickey Townsend, Paige; Jones, Lindsey; Tolosa, Anabella; Massa, Nicole; Simon, Nicole A; Mylonas, Dimitrios; Neumeyer, Ann M; Manoach, Dara S

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

TBL1XR1基因缺陷患者的神经系统表现谱

Nagy, Amanda; Molay, Francine; Hargadon, Sarah; Brito Pires, Claudia; Grant, Natalie; De La Rosa Abreu, Lizbeth; Chen, Jin Yun; D'Souza, Precilla; Macnamara, Ellen; Tifft, Cynthia; Becker, Catherine; Melo De Gusmao, Claudio; Khurana, Vikram; Neumeyer, Ann M; Eichler, Florian S

A Practice Pathway for the Treatment of Night Wakings in Children with Autism Spectrum Disorder

自闭症谱系障碍儿童夜间觉醒治疗实践路径

Galion, Anjalee W; Farmer, Justin G; Connolly, Heidi V; Allhusen, Virginia D; Bennett, Amanda; Coury, Daniel L; Lam, Janet; Neumeyer, Ann M; Sohl, Kristin; Witmans, Manisha; Malow, Beth A

Optimizing Care for Autistic Patients in Health Care Settings: A Scoping Review and Call to Action

优化医疗机构中自闭症患者的护理:范围界定审查和行动呼吁

Harris, Holly K; Weissman, Laura; Friedlaender, Eron Y; Neumeyer, Ann M; Friedman, Alexander J; Spence, Sarah J; Rotman, Chloe; Krauss, Shari; Broder-Fingert, Sarabeth; Weitzman, Carol

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)

Myhre综合征自然史的出现:麻省总医院Myhre综合征诊所评估的47例患者(2016-2023年)

Lin, Angela E; Scimone, Eleanor R; Thom, Robyn P; Balaguru, Duraisamy; Kinane, T Bernard; Moschovis, Peter P; Cohen, Michael S; Tan, Weizhen; Hague, Cole D; Dannheim, Katelyn; Levitsky, Lynne L; Lilly, Evelyn; DiGiacomo, Daniel V; Masse, Kara M; Kadzielski, Sarah M; Zar-Kessler, Claire A; Ginns, Leo C; Neumeyer, Ann M; Colvin, Mary K; Elder, Jack S; Learn, Christopher P; Mou, Hongmei; Weagle, Kathryn M; Buch, Karen A; Butler, William E; Alhadid, Kenda; Musolino, Patricia L; Sultana, Sadia; Bandyopadhyay, Dhrubajyoti; Rapalino, Otto; Peacock, Zachary S; Chou, Elizabeth L; Heidary, Gena; Dorfman, Aaron T; Morris, Shaine A; Bergin, James D; Rayment, Jonathan H; Schimmenti, Lisa A; Lindsay, Mark E

Genetic Testing History in Adults with Autism Spectrum Disorder

自闭症谱系障碍成年人的基因检测史

Mierau, Susanna B; Thom, Robyn P; Ravichandran, Caitlin T; Nagy, Amanda; Rice, Cashel; Macenski, Christina; Keary, Christopher J; Palumbo, Michelle L; McDougle, Christopher J; Neumeyer, Ann M

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

位于浮港综合征基因座之外的SRCAP截断变异会导致一种独特的神经发育障碍,并具有特定的DNA甲基化特征。

Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna