Is one too many? Rethinking the innocence of heterozygous variants in recessive disorders [0.03%]
隐性遗传病杂合变异的无害性的再思考
Henry Mauricio Chaparro-Solano,Ignacio F Mata
Henry Mauricio Chaparro-Solano
Can wearable sensor based measures of gait accurately reflect Parkinson's disease severity? A systematic review and meta-analysis [0.03%]
基于可穿戴传感器的步态测量能否准确反映帕金森病的严重程度？系统评价和meta分析
Hussein Youssef,Mert Sabıroğlu,Sama Mahmoud Abdel-Rahman et al.
Hussein Youssef et al.
Background: Classical clinical assessments of Parkinson's disease (PD) severity are subjective and prone to variability. Wearable sensors, particularly inertial measurement units (IMUs), offer a quantitative approach to a...
Identification of essential tremor and dystonic tremor using Graph Convolutional Networks with multiple connectivity patterns [0.03%]
基于多重连接模式的图卷积网络在必要性震颤和肌张力障碍性震颤识别中的应用研究
Hongyu Wang,Xiaole Zhao,Pan Xiao et al.
Hongyu Wang et al.
Introduction: As a deep learning algorithm, Graph convolutional network (GCN) can efficiently process graph-structured data to identify salient brain regions and brain connectivity patterns. We combine GCNs with a multi-c...
Valery Sit,Rohina Kumar,Nadia Scantlebury et al.
Valery Sit et al.
Introduction: Essential tremor (ET) is marked by action tremor primarily affecting the upper limbs. Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy is a relatively novel, minimally invasive treatment for...
Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene [0.03%]
凯曼共济失调首次在加勒比北部被发现：一名20岁因纽特男性ATCAY基因纯合子缺失病例报告
Marta Villa-Lopez,Melissa J MacPherson,Georges Maire et al.
Marta Villa-Lopez et al.
Electroencephalography-based characteristics of cognitive domain impairments in Parkinson's disease [0.03%]
帕金森病认知障碍的脑电图特征分析
Katarzyna Zawiślak-Fornagiel,Agnieszka Gorzkowska,Patrycja Romaniszyn-Kania et al.
Katarzyna Zawiślak-Fornagiel et al.
Introduction: Cognitive impairment (CI) is a common non-motor symptom of Parkinson's disease (PD). This study explores qEEG patterns associated with distinct cognitive domains to evaluate the potential of qEEG analysis. ...
Sleep phenotypes of α-synucleinopathies and tauopathies with Parkinsonism [0.03%]
帕金森病患者的α-突触核蛋白病和tauopathy的睡眠表型
Nils Briel,Céline Marti,Esther Werth et al.
Nils Briel et al.
Introduction: In neurodegenerative Parkinsonism, biomarkers of α-synucleinopathy (Syn) or tauopathy (Tau) are an unmet need. Rapid eye movement (REM) sleep behavior disorder (RBD) strongly indicates Syn. However, it rema...
Mycoplasma pneumoniae-associated encephalitis presenting as cervico-truncal dystonia: A case report [0.03%]
支原体肺炎相关性脑炎表现为颈躯干肌张力异常：1例报告
Maurizio Morelli,Giuseppe Pedullà,Michele Trimboli et al.
Maurizio Morelli et al.
Postural instability in Parkinson's disease assessed by instrumented pull-test: Clinical-pharmacological implications [0.03%]
帕金森病的姿势不稳：仪器拉力试验的临床与药理学意义
Giovanni Mostile,Federico Contrafatto,Marco Cultraro et al.
Giovanni Mostile et al.
Introduction: Postural Instability (PI) in Parkinson's Disease (PD) and its responsiveness to Levodopa (LD) have been poorly investigated quantitatively. Primary outcomes of the study were to quantify postural instability...