A Novel Homozygous TSPOAP1 Variant in an Indian Patient Causing Childhood-Onset Generalized Dystonia with Cerebellar Atrophy [0.03%]
印度一名患者TSPOAP1基因纯合变异导致童年期发病的全身性肌张力不全及小脑萎缩病例报道
Debayan Dutta,Jacky Ganguly,Rohit Keshav et al.
Debayan Dutta et al.
Sex Differences in Levodopa-Sparing Effect of Safinamide: Post-hoc Findings from a Multicenter, Longitudinal, Case-Control Study [0.03%]
桑菲那美减缓左旋多巴用量增加作用的性别差异——一项病例对照研究的事后分析
Roberto Cilia,Emanuele Cereda,Fabiana Colucci et al.
Roberto Cilia et al.
Background: Female sex increases the risk of levodopa-induced dyskinesias in Parkinson's disease (PD). While levodopa-sparing effects of monoamine oxidase-B inhibitors (iMAO-B) are established, sex differences in response...
Meaghan Berns,Matt Bower,Khalaf Bushara
Meaghan Berns
Clinical Progression in Alpha-Synuclein Positive LRRK2-PD and Sporadic Parkinson's Disease: A Longitudinal Analysis [0.03%]
阳性LRRK2-PD和散发性帕金森病的临床进展：纵向分析
Lucy A Morse,Seung Ho Choi,Caroline Gochanour et al.
Lucy A Morse et al.
Background: LRRK2-Parkinson's disease (LRRK2-PD) is biologically heterogeneous with approximately 30% lacking aggregated alpha synuclein (αSyn) in cerebrospinal fluid by seed amplification assay (SAA). Prior work has sug...
Childhood-Onset Dystonia and Biallelic Findings in VPS13C: An Exploratory Report [0.03%]
儿童起病的VPS13C双等位基因突变特异性扭转痉挛患者探索性报告
Tsung-Lin Lee,Ni-Chung Lee,Chin-Hsien Lin
Tsung-Lin Lee
Continuous Apomorphine Infusion in Multiple System Atrophy Real-World Insights From a French Nationwide Retrospective Cohort [0.03%]
连续左旋阿朴吗啡输注治疗多系统萎缩——来自法国全国性回顾队列的现实世界见解
Simon Lamy,Frederique Leh,Alexandra Foubert-Samier et al.
Simon Lamy et al.
Background: Continuous subcutaneous apomorphine infusion (CSAI) is effective in Parkinson's disease but has not been evaluated in multiple system atrophy (MSA). ...
Bilateral GPi Deep Brain Stimulation for Severe Speech-Induced Dystonic Dysfluency: A Phenotype at the Stuttering-Dystonia Interface [0.03%]
针对重度说话诱发性 dystonia 性言语不流畅的双侧尾状核间接通路深部脑刺激：位于口吃和 dystonia 交界处的一种表型
Shivam Om Mittal,Yasmin Abdelmajid,Tanmoy Maiti
Shivam Om Mittal
Dyskinesia-Hyperpyrexia Syndrome Following Subthalamic Deep Brain Stimulation, a Case Report [0.03%]
丘脑底核深部电刺激术后致肌张力障碍-发热综合征1例报告
Brais Rodríguez Botana,Gustavo Fernández-Pajarín,Paula Román-Pena et al.
Brais Rodríguez Botana et al.
Joohi Jimenez-Shahed
Joohi Jimenez-Shahed
Perrault Syndrome Presenting With Progressive Ataxia and the Hot Cross Bun Sign [0.03%]
以进行性共济失调和圣伯多禄堡征为表现的佩劳综合征病例报告
Elnaz Saber,Parvaneh Layegh,Nahid Olfati et al.
Elnaz Saber et al.