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

Using expert-cited features to detect leg dystonia in cerebral palsy

利用专家引用的特征检测脑瘫患者的腿部肌张力障碍

Bajpai, Rishabh; Rust, Alyssa; Lott, Emma; Kim, Susie; Gandham, Sushma; Chintalapati, Keerthana; Blackburn, Joanna; Gelineau-Morel, Rose; Kruer, Michael C; Mingbunjerdsuk, Dararat; O'Malley, Jennifer; Tochen, Laura; Waugh, Jeff L; Wu, Steve; Feyma, Timothy; Perlmutter, Joel S; Aravamuthan, Bhooma R

Clinical Features and Disease Progression in Older Individuals with Rett Syndrome

老年雷特综合征患者的临床特征和疾病进展

Neul, Jeffrey L; Benke, Timothy A; Marsh, Eric D; Suter, Bernhard; Fu, Cary; Ryther, Robin C; Skinner, Steven A; Lieberman, David N; Feyma, Timothy; Beisang, Arthur; Heydemann, Peter; Peters, Sarika U; Ananth, Amitha; Percy, Alan K

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant

由复发性 c.892C>T NACC1 变异引起的运动过度症

Komulainen-Ebrahim, Jonna; Kangas, Salla M; López-Martín, Estrella; Feyma, Timothy; Scaglia, Fernando; Martínez-Delgado, Beatriz; Kuismin, Outi; Suo-Palosaari, Maria; Carr, Lucinda; Hinttala, Reetta; Kurian, Manju A; Uusimaa, Johanna

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

KCNH5 电压感应和孔道结构域错义变异个体的神经发育和癫痫表型

Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Laššuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E; Mefford, Heather C; Carvill, Gemma L

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

父母对与NACC1相关的超罕见遗传疾病中间歇性易怒的看法

Schoch, Kelly; McConkie-Rosell, Allyn; Walley, Nicole; Bhambhani, Vikas; Feyma, Timothy; Pizoli, Carolyn E; Smith, Edward C; Tan, Queenie K-G; Shashi, Vandana

Safety and feasibility of transcranial direct current stimulation stratified by corticospinal organization in children with hemiparesis

经颅直流电刺激治疗偏瘫儿童的安全性和可行性(按皮质脊髓组织分层)

Nemanich, Samuel T; Lench, Daniel H; Sutter, Ellen N; Kowalski, Jesse L; Francis, Sunday M; Meekins, Gregg D; Krach, Linda E; Feyma, Tim; Gillick, Bernadette T

Anodal Contralesional tDCS Enhances CST Excitability Bilaterally in an Adolescent with Hemiparetic Cerebral Palsy: A Brief Report

阳极对侧经颅直流电刺激增强偏瘫型脑瘫青少年双侧皮质脊髓束兴奋性:简要报告

Delatorre, Rodrigo G; Sutter, Ellen N; Nemanich, Samuel T; Krach, Linda E; Meekins, Gregg; Feyma, Timothy; Gillick, Bernadette T

Chronic striatal cholinergic interneuron excitation induces clinically-relevant dystonic behavior in mice

慢性纹状体胆碱能中间神经元兴奋可诱发小鼠出现具有临床意义的肌张力障碍行为。

Gemperli, Kat; Lu, Xinguo; Chintalapati, Keerthana; Rust, Alyssa; Bajpai, Rishabh; Suh, Nathan; Blackburn, Joanna; Gelineau-Morel, Rose; Kruer, Michael C; Mingbundersuk, Dararat; O'Malley, Jennifer; Tochen, Laura; Waugh, Jeff; Wu, Steve; Feyma, Timothy; Perlmutter, Joel; Mennerick, Steven; McCall, Jordan; Aravamuthan, Bhooma R

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

HNRNP基因的罕见有害突变会导致共同的神经发育障碍

Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

EEF1A2基因中有害的新生错义变异会导致发育性和退行性癫痫-运动障碍性脑病。

Carvill, Gemma L; Helbig, Katherine L; Myers, Candace T; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N; Guida, Brandon S; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G; Caruso, Paul A; Lin, Angela E; Jansen, Floor E; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C; Kruer, Michael C