Evaluation of SORL1 in Lewy Body Dementia Identifies No Significant Associations [0.03%]
SORL1在路易体痴呆中的评估未发现有显著相关性
Anindita Ray,Paolo Reho,Zalak Shah;International LBD Genomics Consortium;Sonja W Scholz
Anindita Ray
TRAX Provides Neuroprotection for Huntington's Disease Via Modulating a Novel Subset of MicroRNAs [0.03%]
通过调节新型微小核糖核酸亚组发挥 Huntingtons 病神经保护作用的 TRAX
Yu-Ting Weng,Hui-Mei Chen,Ting Chien et al.
Yu-Ting Weng et al.
Background: Huntington's disease (HD) is a neurodegenerative disease caused by CAG-repeat expansions (>36) in exon 1 of HTT, which dysregulates multiple cellular machineries. Translin-associated protein X (TRAX) is a scaf...
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy [0.03%]
临近ZIC1和ZIC4的共同变异的多系统萎缩症分析
Franziska Hopfner,Anja K Tietz,Viktoria C Ruf et al.
Franziska Hopfner et al.
Background: Multiple System Atrophy is a rare neurodegenerative disease with alpha-synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, l...
Felix Marchand,Caroline Moreau,Gregory Kuchcinski et al.
Felix Marchand et al.
Background: Neuroferritinopathy is a rare inherited neurodegenerative disease with brain iron accumulation characterized by brain iron overload resulting in progressive movement disorders. No treatment is currently availa...
Lewy Body Disease Primate Model with α-Synuclein Propagation from the Olfactory Bulb [0.03%]
嗅球注射α-突触核蛋白诱发食蟹猴路易小体病动物模型
Masanori Sawamura,Hirotaka Onoe,Hideo Tsukada et al.
Masanori Sawamura et al.
Background: Lewy body diseases (LBDs), which are pathologically defined as the presence of intraneuronal α-synuclein (α-Syn) inclusions called Lewy bodies, encompass Parkinson's disease, Parkinson's disease with dementi...
Low Frequency of p.S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders [0.03%]
PIAS1中p.S510G的低频率降低了其修饰重复扩增障碍的相关性
Shela Marie Algodon,Tanja Fischer,Raymond Rosales et al.
Shela Marie Algodon et al.
Reply to: "Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations"? [0.03%]
关于“血浆糖基鞘氨醇能否成为与GBA1突变相关的帕金森病的标志物？”的回信
Matthew Surface,Manisha Balwani,Cheryl Waters et al.
Matthew Surface et al.
Reply to: "Overlapping Ranges in Levels Indicate That Hexosylsphingosine Is Not a Clinically Relevant Biomarker for GBA1-Associated Parkinson's Disease" [0.03%]
关于“GBA1相关帕金森病中HexC不是临床相关的生物标志物”的评论回复文章标题翻译：有关层级重叠范围表明HexC不作为GBA1相关帕金森病的临床相关生物标记物观点的评论回复
Adenrele M Gleason,Nahid Tayebi,Grisel J Lopez et al.
Adenrele M Gleason et al.
Nutritional Recovery Batwing Dystonia in Infantile Vitamin B12 Deficiency [0.03%]
婴儿维生素B12缺乏的营养恢复和batwing肌张力不全恢复正常
Pawan Kumar,Balamurugan Nagarajan,Sameer Vyas et al.
Pawan Kumar et al.
The neurocutaneous syndrome of infantile B12 deficiency, more commonly called the infantile tremor syndrome, typically is characterized by developmental delay, sparse hair, hyperpigmentation, and tremors. When treated with injectable B12, t...
HOMER-3 Antibodies Were Not Detected in Two German Cohorts of Patients with Multiple System Atrophy [0.03%]
德国两组多系统萎缩患者的血浆中未检测出Homer-3抗体
Martin Klietz,Sabrina Katzdobler,Johannes Levin et al.
Martin Klietz et al.