Mirella Russo,Tommaso Costa,Dario Calisi et al.
Mirella Russo et al.
Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder [0.03%]
DISCO相互作用蛋白2同源物B的CGG重复序列扩增与神经发育障碍和进行性运动障碍兄妹综合征相关性研究
Emilie T Théberge,Kate Durbano,Diane Demailly et al.
Emilie T Théberge et al.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide ...
Two London Memorials to "James Parkinson [1755-1824], Esq. Surgeon, Late of Hoxton-Square" [0.03%]
伦敦两座纪念詹姆斯·帕金森先生(1755-1824年，外科医生，曾任霍克斯顿广场医师)的纪念碑
Nadeem Toodayan,Andrew J Lees
Nadeem Toodayan
Of all London memorials commemorating historical medical personalities, none perhaps have been so frequented by neurologists as those honoring James Parkinson (1755-1824) of Hoxton square. Situated in the historical London borough of Hackne...
Gait Video-Based Prediction of Severity of Cerebellar Ataxia Using Deep Neural Networks [0.03%]
基于深度神经网络的步态视频预测小脑共济失调严重程度
Katsuki Eguchi,Hiroaki Yaguchi,Hisashi Uwatoko et al.
Katsuki Eguchi et al.
Background: Pose estimation algorithms applied to two-dimensional videos evaluate gait disturbances; however, a few studies have used this method to evaluate ataxic gait. ...
Human Endogenous Retrovirus K in Astrocytes Is Altered in Parkinson's Disease [0.03%]
帕金森病中星形胶质细胞的人内源性逆转录病毒K发生变化
YuHong Fu,Gabrielle L Adler,Priscilla Youssef et al.
YuHong Fu et al.
Background: Parkinson's disease (PD) is the most common neurodegenerative movement disease. Human endogenous retroviruses (HERVs) are proviral remnants of ancient retroviral infection of germ cells that now constitute abo...
Mitochondria-Related Genome-Wide Mendelian Randomization Identifies Putatively Causal Genes for Neurodegenerative Diseases [0.03%]
线粒体相关基因组范围门德尔随机化识别神经退行性疾病的致病基因
Zheyi Wang,Yize Sun,Zetai Bai et al.
Zheyi Wang et al.
Background: Mitochondrial dysfunction is increasingly recognized as a key factor in neurodegenerative diseases (NDDs), underscoring the therapeutic potential of targeting mitochondria-related genes. This study aimed to id...
Essential Tremor Suppression with a Novel Anti-Tremor Orthosis: A Randomized Crossover Trial [0.03%]
一种新型抗震颤矫形器治疗震颤麻痹的疗效：交叉对照试验
Winfred Mugge,Liset E M Elstgeest,Milan van Ginkel et al.
Winfred Mugge et al.
Background: Essential tremor (ET) is characterized by action tremor of the arms, which can interfere substantially with daily activities. Pharmacotherapy may be ineffective or associated with side effects, and stereotacti...
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene [0.03%]
与BCAP31基因新突变相关的遗传性共济失调综合征伴有听力下降
Martin Paucar,Tianyi Li,Åsa Bergendal et al.
Martin Paucar et al.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featurin...
Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients [0.03%]
静止姿势不稳定性作为静止震颤性脊髓小脑共济失调3型患者运动异常的敏感生物标志物
Mao-Lin Cui,Xia-Hua Liu,Ying Li et al.
Mao-Lin Cui et al.
Background: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in pa...
Magnetic Resonance-Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse [0.03%]
一项针对52名帕金森病患者的前瞻性队列研究：磁共振引导聚焦超声丘脑切除术的预后预测中年龄和病变体积可能发挥重要作用
Arianna Braccia,Nico Golfrè Andreasi,Francesco Ghielmetti et al.
Arianna Braccia et al.
Background: Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy of ventral intermediate (Vim) nucleus is useful to treat drug-resistant tremor-dominant Parkinson's disease (TdPD), but tremor relapse may occu...