Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant [0.03%]
与神经发育基因相关的扭转痉挛：NAA15变异的儿科病例报告
Delia Yubero,Loreto Martorell,Tania Nunes et al.
Delia Yubero et al.
Annonaceae Consumption Worsens Disease Severity and Cognitive Deficits in Degenerative Parkinsonism [0.03%]
消耗ANNONACEAE加重进行性帕金森病的严重程度和认知缺陷
Laurent Cleret de Langavant,Emmanuel Roze,Aimée Petit et al.
Laurent Cleret de Langavant et al.
Background: High consumption of Annona muricata fruit has been previously identified as a risk factor for atypical parkinsonism in the French Caribbean islands. ...
Aggregation-Seeding Forms of α-Synuclein Are Not Detected in Acute Coronavirus Disease 2019 Cerebrospinal Fluid [0.03%]
急性新型冠状病毒疾病脑脊液中未检出α-突触核蛋白聚集和种晶形式
Marco J Russo,Karen MacLeod,Jennifer Lamoureux et al.
Marco J Russo et al.
LRRK2 PROTAC Degraders as a Potential Novel Targeting Strategy for Parkinson's Disease? [0.03%]
LRRK2 PROTAC降解剂作为帕金森病的潜在新靶向策略？
Alexander Zimprich
Alexander Zimprich
Derivation and Validation of a Phenoconversion-Related Pattern in Idiopathic Rapid Eye Movement Behavior Disorder [0.03%]
异态睡眠行为障碍向帕金森病或其他神经退行性疾病转化相关特征的推导与验证
Pietro Mattioli,Beatrice Orso,Claudio Liguori et al.
Pietro Mattioli et al.
Background: Idiopathic rapid eye movement sleep behavior disorder (iRBD) represents the prodromal stage of α-synucleinopathies. Reliable biomarkers are needed to predict phenoconversion. ...
Jordan L Schultz,Eric A Epping,Ellen van der Plas et al.
Jordan L Schultz et al.
Mendelian Randomization Study Using Dopaminergic Neuron-Specific eQTL Nominates Potential Causal Genes for Parkinson's Disease [0.03%]
利用多巴胺能神经元特异性表达定量遗传相关分析的孟德尔随机化研究提名帕金森病致病基因候选人
Xinglun Dang,Zhijun Zhang,Xiong-Jian Luo
Xinglun Dang
Background: Large-scale genome-wide association studies (GWASs) have reported multiple risk variants for Parkinson's disease (PD). However, little is known about how these reported risk variants confer risk of PD. ...
Digging into the Unknowns of the Human Genome Sequence: The T2T-CHM13 Reference Assembly Release [0.03%]
探究人类基因组序列的未知数：T2T-CHM13参考组装发布
Francesca Magrinelli,Niccolò E Mencacci
Francesca Magrinelli
Predictive Modeling of Huntington's Disease Unfolds Thalamic and Caudate Atrophy Dissociation [0.03%]
预测亨廷顿舞蹈病的模型解剖丘脑和尾状核萎缩的区别
Eduardo Castro,Pablo Polosecki,Dorian Pustina et al.
Eduardo Castro et al.
Background: Atrophy in the striatum is a hallmark of Huntington's disease (HD), including the period before clinical motor diagnosis (before-CMD), but it extends to other subcortical structures. The study of the covariati...
Annu Huovinen,Elina Jaakkola,Juho Joutsa
Annu Huovinen