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

Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies

遗传性癫痫伴随运动障碍的评估、诊断和治疗

Garris, Jordan; Abbott, Megan; Axeen, Erika; Tochen, Laura; Schreiber, John M

Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia

COQ4基因的双等位基因变异导致儿童期发病的纯遗传性痉挛性截瘫

Schierbaum, Luca; Quiroz, Vicente; Tam, Amy; Zubair, Umar; Tochen, Laura; Srouji, Rasha; Yang, Kathryn; Ebrahimi-Fakhari, Darius

Awakening-Related Bouts of Severe Opisthotonos in GNAO1

GNAO1 患者觉醒时出现严重角弓反张

Zea Vera, Alonso; DiSabella, Marc; Tochen, Laura; Meltzer, Meira; Gropman, Andrea

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

Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)

β螺旋桨蛋白相关神经退行性疾病(BPAN)的心理测量结果指标

Gavazzi, Francesco; Pierce, Samuel R; Vithayathil, Joseph; Cunningham, Kristin; Anderson, Kim; McCann, Jacob; Moll, Ashley; Muirhead, Kayla; Sherbini, Omar; Prange, Erin; Dubbs, Holly; Tochen, Laura; Fraser, Jamie; Helbig, Ingo; Lewin, Naomi; Thakur, Nivedita; Adang, Laura A

Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome

患有 TREX1 介导的 Aicardi-Goutières 综合征的个体罹患霍奇金淋巴瘤

Gavazzi, Francesco; Fraser, Jamie L; Bloom, Miriam; Tochen, Laura; Rhee, Jullie; Kwan, Megan; Victoria, Teresa; Teachey, David T; Ho, Cheng-Ying; Vanderver, Adeline; Linn, Rebecca L

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration

泛酸磷酸酯治疗泛酸激酶相关神经退行性疾病的随机对照试验

Klopstock, Thomas; Videnovic, Aleksandar; Bischoff, Almut Turid; Bonnet, Cecilia; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L; Fraser, Jamie L; Gonzalez, Victoria; Hermanowicz, Neal; Jech, Robert; Jinnah, Hyder A; Kmiec, Tomasz; Lang, Anthony; Martí, Maria J; Mercimek-Andrews, Saadet; Monduy, Migvis; Nimmo, Graeme A M; Perez-Dueñas, Belen; Pfeiffer, Helle Cecilie Viekilde; Planellas, Lluis; Roze, Emmanuel; Thakur, Nivedita; Tochen, Laura; Vanegas-Arroyave, Nora; Zorzi, Giovanna; Burns, Colleen; Greblikas, Feriandas

Active Case Finding for Rheumatic Fever in an Endemic Country

在地方性流行国家开展风湿热主动病例筛查

Okello, Emmy; Ndagire, Emma; Atala, Jenifer; Bowen, Asha C; DiFazio, Marc P; Harik, Nada S; Longenecker, Chris T; Lwabi, Peter; Murali, Meghna; Norton, Scott A; Omara, Isaac Otim; Oyella, Linda Mary; Parks, Tom; Pulle, Jafesi; Rwebembera, Joselyn; Sarnacki, Rachel J; Spurney, Christopher F; Stein, Elizabeth; Tochen, Laura; Watkins, David; Zimmerman, Meghan; Carapetis, Jonathan R; Sable, Craig; Beaton, Andrea

Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1

与包含SLC20A2和THAP1基因的8p11.2染色体新缺失相关的颅内钙化和肌张力障碍

Mu, Weiyi; Tochen, Laura; Bertsch, Caroline; Singer, Harvey S; Barañano, Kristin W