De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures [0.03%]
儿童发病共济失调、显著眼球震颤和癫痫患者的FRMD5新发错义突变
Ignacio J Keller Sarmiento,Bernabe I Bustos,Joanna Blackburn et al.
Ignacio J Keller Sarmiento et al.
Background: FRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities. Objectives: ...
Basic Science in Movement Disorders: Fueling the Engine of Translation into Clinical Practice [0.03%]
运动障碍的基础科学：转化为临床实践的动力引擎
Tiago F Outeiro,Lorraine V Kalia,Erwan Bezard et al.
Tiago F Outeiro et al.
Basic Science is crucial for the advancement of clinical care for Movement Disorders. Here, we provide brief updates on how basic science is important for understanding disease mechanisms, disease prevention, disease diagnosis, development ...
Idiopathic Rapid Eye Movement Sleep Behavior Disorder (iRBD) Shares Similar Fecal Short-Chain Fatty Acid Alterations with Multiple System Atrophy (MSA) and Parkinson's Disease (PD) [0.03%]
特发性快速眼动睡眠行为障碍(iRBD)与多系统萎缩(MSA)和帕金森病(PD)具有类似的粪便短链脂肪酸改变特征
Juanjuan Du,Pingchen Zhang,Yuyan Tan et al.
Juanjuan Du et al.
Background: Idiopathic rapid eye movement sleep behavior disorder (iRBD) is considered as a prodromal stage of synucleinopathies. Fecal short-chain fatty acid (SCFA) changes in iRBD and the relationships with synucleinopa...
Unilateral Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy Thalamotomy for Essential Tremor [0.03%]
单侧磁共振影像引导下激光间质热疗丘脑损毁治疗原发性震颤有效性及安全性的研究
Mickael Aubignat,Mélissa Tir,Martial Ouendo et al.
Mickael Aubignat et al.
Background: Essential tremor (ET) affects numerous adults, impacting quality of life (QOL) and often defying pharmacological treatment. Surgical interventions like deep brain stimulation (DBS) and lesional approaches, inc...
Contribution of Nutritional, Lifestyle, and Metabolic Risk Factors to Parkinson's Disease [0.03%]
营养、生活方式和代谢危险因素在帕金森病发病中的作用
Nicola Veronese,Andrea Nova,Teresa Fazia et al.
Nicola Veronese et al.
Background: Modifiable risk factors for Parkinson's disease (PD) are poorly known. Objectives: The aim is to evaluate independent assoc...
Re-emergent Tremor in Parkinson's Disease: Evidence of Pathologic β and Prokinetic γ Activity [0.03%]
帕金森病复发性震颤：病理β活动和促运动γ活动的证据
Hao Ding,Bahman Nasseroleslami,Daniela Mirzac et al.
Hao Ding et al.
Background: Re-emergent tremor is characterized as a continuation of resting tremor and is often highly therapy refractory. This study examines variations in brain activity and oscillatory responses between resting and re...
Alterations of Peripheral Lymphocyte Subsets in Isolated Rapid Eye Movement Sleep Behavior Disorder [0.03%]
孤立性快速眼动睡眠行为障碍患者的外周血淋巴细胞亚群改变
Yuanchu Zheng,Yatong Li,Huihui Cai et al.
Yuanchu Zheng et al.
Background: Adaptive immune dysfunction may play a crucial role in Parkinson's disease (PD) development. Isolated rapid eye movement sleep behavior disorder (iRBD) represents the prodromal stage of synucleinopathies, incl...
Reply to: "Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant" [0.03%]
关于ANO3相关多巴胺反应性肌张力不全中由p.Glu510Lys复发变异引起的表型异质性进化的一封回信
Luigi M Romito,Valentina Leta,Barbara Garavaglia et al.
Luigi M Romito et al.
Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant [0.03%]
ANO3相关 dystonia 中由于复发性p.Glu510Lys变异导致的异质表型演化
Elisabetta Indelicato,Sylvia Boesch,Michael Zech
Elisabetta Indelicato