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

Editorial: Advances in DYRK1A syndrome: underlying mechanisms, disease models, and novel therapeutic approaches

社论:DYRK1A综合征研究进展:潜在机制、疾病模型和新型治疗方法

Glass, Oliver K; Piton, Amelie; Pfalzer, Anna

Psychiatric Symptoms Among Adolescents and Young Adults With or Without the Huntingtin Gene Expansion

亨廷顿基因扩增与否对青少年和青年人精神症状的影响

Watson, Kelly H; Ciriegio, Abagail E; Pfalzer, Anna C; Snow, Abigail L B; Diehl, Spencer; McDonell, Katherine E; Vnencak-Jones, Cindy L; Long, Jeffrey D; Compas, Bruce E; Claassen, Daniel O

Rehabilitation after surgical release of the stiff elbow: A literature review

肘关节僵硬症手术松解术后的康复:文献综述

Schneider, M M; Rentschler, V; Geyer, S; Jung, C; Hollinger, B; Pfalzer, F; Beitzel, K; Burkhart, K; Schoch, C

Use of Basket Trials to Solve Sleep Problems in Patients with Rare Diseases

利用篮子试验解决罕见病患者的睡眠问题

Pullen, Lara C; Bott, Nick; McCanless, Cate; Revana, Amee; Sevinc, Gunes; Gorman, Casey; Duncan, Alexandra; Poliquin, Sarah; Pfalzer, Anna C; Schmidt, Katie Q; Wassman, E Robert; Chapman, Chère; Picone, Maria

Koolen-de Vries Syndrome: a journey from diagnosis to treatments

库伦-德弗里斯综合征:从诊断到治疗的旅程

Pfalzer, Anna C; Ivers, Blake; Haynam, Alayna; Drake, Barbara; Koolen, David A; Kasri, Nael Nadif; de Vries, Bert B A; Mefford, Heather C; Morgan, Angela; Bichell, Terry Jo; Simon, Elijah; Terala, Ananya; Myers, Kenneth A; Point, Ashley

The MED13L Foundation strategic research plan: a roadmap to the future

MED13L基金会战略研究计划:通往未来的路线图

Heilmann, Rachel; Pfalzer, Anna; Bichell, Terry Jo; Terala, Ananya; Campbell, Alicia; Taatjes, Dylan; Ghoumid, Jamal; Grueter, Chad; Bain, Jennifer; Strich, Randy; Dias, Vanessa; Sokorai, Kimberly; Seaver, Nicholas; Sexton, Kelly; Boychuck, Kathleen

Intrapersonal and Interpersonal Disengagement Coping: Associations with Emotions of Youth At-Risk for Huntington's Disease

个体内部和人际间的脱离应对方式:与亨廷顿病高危青少年情绪的关联

Watson, Kelly H; Ciriegio, Abagail E; Pfalzer, Anna C; Snow, Abigail; Hale, Lisa; Diehl, Spencer; McDonell, Katherine E; Claassen, Daniel O; Compas, Bruce E

A disease concept model for STXBP1-related disorders

STXBP1相关疾病的概念模型

Sullivan, Katie R; Ruggiero, Sarah M; Xian, Julie; Thalwitzer, Kim M; Ali, Rahma; Stewart, Sydni; Cosico, Mahgenn; Steinberg, Jackie; Goss, James; Pfalzer, Anna C; Horning, Kyle J; Weitzel, Nicole; Corey, Sydney; Conway, Laura; Rigby, Charlene Son; Bichell, Terry Jo; Helbig, Ingo

Education Research: Neurology Residents Report Improved Skills After Initiation of a Lumbar Puncture Clinic

教育研究:神经内科住院医师报告称,腰椎穿刺诊所成立后,他们的技能有所提高

Pfalzer, Anna; Koons, Heather; Lee, Christopher; Acosta, Lealani Mae

Alterations in metal homeostasis occur prior to canonical markers in Huntington disease

亨廷顿病中金属稳态的改变先于典型标志物的出现。

Pfalzer, Anna C; Yan, Yan; Kang, Hakmook; Totten, Melissa; Silverman, James; Bowman, Aaron B; Erikson, Keith; Claassen, Daniel O