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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Local Field Potential-Based Programming for Deep Brain Stimulation in Pediatric DYT1 Dystonia

基于局部场电位的深部脑刺激编程治疗儿童DYT1肌张力障碍

Kelbert, James; Guest, Ashley; Bisarad, Pritha; Larsh, Travis R; Bhatia, Poonam; Chinander, Sarah; Cornejo, Patricia; van der Werf, Lauren; Ponce, Francisco A; Thompson, John A; Kruer, Michael C

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects

与儿童肠道假性梗阻 (PIPO) 和脑发育缺陷相关的新型 KIF26A 变异

Nosrati, Mohammad Sadegh Shams; Doustmohammadi, Alireza; Severino, Mariasavina; Romano, Ferruccio; Zafari, Mahdi; Nemati, Amir Hesam; Velmans, Clara; Netzer, Christian; Breuer, Jonas; Broekaert, Ilse Julia; Joachim, Alexander; Almasri, Nihad; Kruer, Michael C; Skidmore, Peter; Bisarad, Pritha; Hoque, Jumana; Bakhtiari, Somayeh; Torella, Annalaura; Nigro, Vincenzo; Buffelli, Francesca; Fulcheri, Ezio; Müller, Annette; Zara, Federico; Capra, Valeria; Scala, Marcello

Stimulation-related increases in power spectral density covary with clinical evidence of overstimulation during deep brain stimulation for pediatric dystonia

在儿童肌张力障碍的深部脑刺激过程中,刺激相关的功率谱密度增加与过度刺激的临床证据呈正相关。

Pascual, Madelyn; Bisarad, Pritha; Kelbert, James; Chinander, Sarah; Gelineau-Morel, Rose; Gorodetsky, Carolina; Hewitt, Angela L; Larsh, Travis; Lucente, Nicole; O'Malley, Jennifer; Sanger, Terrence D; van der Werf, Lauren; Hauptman, Jason S; Ponce, Francisco A; Kruer, Michael C; Thompson, John A

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy

近亲结婚家族中脑瘫患者的隐性基因组和表型变异

Bisarad, Pritha; Wang, Yung-Chun; Skidmore, Peter T; Galaz-Montoya, Carolina I; Lewis, Sara A; Alhaddad, Bader; Kong, Nahyun; Julian, Dominic; Magee, Helen; Kruer, Tyler N; Xie, Yuhan; Zheng, Wangjie; Li, Boyang; Rajabpour, Fatemeh V; Liu, James; Revanur, Anjali; Bakur, Khadijah; Firouzabadi, Saghar Ghasemi; Sharbatkhori, Sarina; Tafakhori, Abbas; Taghiabadi, Ehsan; Nezaminargabad, Ermia; Vosoogh, Shohreh; Jamshidi, Javad; Arefnia, Serajaddin; Hosseini, Seyed Ahmad; Khajehmirzaei, Alireza; Jamali, Faezeh; Ahmadifard, Azadeh; Khodadadi, Hamidreza; Daneshmand, Parvaneh; Bohlega, Saeed; Maddirevula, Sateesh; Nadeef, Seba Saleh; Hashem, Mais O; Salih, Mustafa A; Mohmed, Inaam N; Sticht, Heinrich; Morias, Sara Peres; Damásio, Joana; Santos, Mariana; Loureiro, José Leal; Rodrigues, Rita; Stevanin, Giovanni; Benkirane, Mehdi; Dauriat, Benjamin; Head, Nicholas; Baptista, Júlia; Shahhosseini, Saeid; Mohammad, Farhan; Zhao, Hongyu; Padilla-Lopez, Sergio; Alkuraya, Fowzan; Bakhtiari, Somayeh; Kruer, Michael C; Jin, Sheng Chih; Darvish, Hossein

Predicting monoclonal antibody binding sequences from a sparse sampling of all possible sequences

从所有可能序列的稀疏采样中预测单克隆抗体结合序列

Pritha Bisarad #, Laimonas Kelbauskas #, Akanksha Singh #, Alexander T Taguchi, Olgica Trenchevska, Neal W Woodbury