Temporal Signature of Task-Specificity in Isolated Focal Laryngeal Dystonia [0.03%]
单发性喉部肌张力障碍任务特异性的时程特征研究
Stefan K Ehrlich,Giovanni Battistella,Kristina Simonyan
Stefan K Ehrlich
Background and objective: Laryngeal dystonia (LD) is focal task-specific dystonia, predominantly affecting speech but not whispering or emotional vocalizations. Prior neuroimaging studies identified brain regions forming ...
Differential Implications of Cerebral Hypoperfusion and Hyperperfusion in Parkinson's Disease [0.03%]
帕金森病患者脑低灌注和高灌注的不同影响
Seong Ho Jeong,Su Hong Kim,Chan Wook Park et al.
Seong Ho Jeong et al.
Background: Patients with Parkinson's disease (PD) exhibit widespread brain perfusion changes. Objective: This study investigated wheth...
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction [0.03%]
EIF4A2缺失引起的扭转痉挛：蛋白质翻译功能障碍导致的新病种
Philip Harrer,Matej Škorvánek,Volker Kittke et al.
Philip Harrer et al.
Background: Protein synthesis is a tightly controlled process, involving a host of translation-initiation factors and microRNA-associated repressors. Variants in the translational regulator EIF2AK2 were first linked to ne...
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia [0.03%]
适应蛋白复合物4相关遗传性痉挛性截瘫患者的血浆神经丝轻链升高
Julian E Alecu,Afshin Saffari,Marvin Ziegler et al.
Julian E Alecu et al.
Background: Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1. ...
Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism [0.03%]
线粒体多基因评分与生活方式因素在LRRK2 Gly2019Ser突变帕金森病中的交互作用
Theresa Lüth,Carolin Gabbert,Sebastian Koch et al.
Theresa Lüth et al.
Background: A mitochondrial polygenic score (MGS) is composed of genes related to mitochondrial function and found to be associated with Parkinson's disease (PD) risk. ...
Preparing for Disease-Modification Trials in Degenerative Cerebellar Ataxias: Which Endpoints to Choose? [0.03%]
选择终点以准备退行性脊髓小脑共济失调疾病修饰试验的看法
Roderick P P W M Maas
Roderick P P W M Maas
Bioinformatics and Immunohistochemical Analyses Support Preserved Expression of Glial Cell Line-Derived Neurotrophic Factor Receptor RET in Parkinson's [0.03%]
生物信息学和免疫组化分析支持胶质细胞系衍生神经营养因子受体RET在帕金森病中表达良好
Conor Giles Doran,Fionnuala Wilson,Susan R Goulding et al.
Conor Giles Doran et al.
Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants" [0.03%]
对“由SHQ1双等位基因变异引起早发性非进行性全身 dystonia”的回复
Elisabetta Indelicato,Sylvia Boesch,Michael Zech
Elisabetta Indelicato
Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants [0.03%]
SHQ1 基因双等位基因变异导致早发非进行性全身扭转痉挛
Anna Revert Barberà,Guerau Fernández Isern,Juan Darío Ortigoza-Escobar
Anna Revert Barberà