DYSTONIA相关论文
DYT1 early-onset generalized torsion dystonia is an inherited movement disorder associated with mutations in DYT1 that c......
A Unique Redox-sensing Sensor-Ⅱ Motif in TorsinA Plays a Critical Role in Nucleotide and Partner Bin
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Subthalamic nuclei stimulation in patients with pantothenate kinase-associated neurodegeneration (PK
Introduction.Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that ......
肌张力障碍是一种在临床表型和基因型上都具有高度异质性的疾病，在临床实践中其诊断及治疗均面临诸多挑战。临床医师通过深入了解肌......
戊二酸尿症1型为罕见的有机酸尿症,为常染色体隐性遗传病.戊二酰辅酶A脱氢酶(GCDH)基因缺陷导致戊二酰辅酶A脱氢酶活性降低或缺陷,......
三磷酸鸟苷环化水解酶1(GTPCH1)是由GCH1基因编码合成的蛋白产物，在生理条件下，催化底物GTP生成具有生物活性的四氢生物蝶呤(BH4)。B......
目的 探讨脑深部电刺激术(deep brain stimulation, DBS)治疗全身性、偏身性和节段性肌张力障碍的有效性和安全性,肌张力障碍患者......
BACKGROUND: Much research has focused on the close relationship between etiopathogenesis of dystonia and abnormalities o......
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. At least thirteen diffe......
肉毒毒素通过阻断突触前膜乙酰胆碱的释放,能够抑制肌肉过度收缩引起的运动障碍及姿势异常,已经成为局限性肌张力障碍和痉挛等病症......
目的 探讨帕金森病和肌张力障碍患者内苍白球神经元电活动特点,揭示其病理生理基础.方法 时间对象为13例原发性帕金森病患者和8例......
原发性肌张力障碍是一种遗传性神经系统疾病,其发病与基因突变有关.其中,DYT1是最常见的突变基因,其结构和致病机制日益明确,这对......
目的 观察3-硝基丙酸(3-NP)诱导的继发性肌张力障碍大鼠模型的行为学变化,以建立一个可靠的继发性肌张力障碍动物模型.方法 36只雄......
Ultrasound and Electromyography as Guidance Tools for the Botulinum Toxin Therapy in Cervical Dyston
Cervical Dystonia (CD) is the most common type of focal dystonia in the movement disorders units of any specialized hosp......
目的评价《"促进以患者为中心的学习"指南》在肌张力障碍患儿家庭健康教育中的应用效果。方法采用立意抽样法选取90例肌张力障碍患......
肉毒毒素通过阻断突触前膜乙酰胆碱的释放,能够抑制肌肉过度收缩引起的运动障碍及姿势异常,已经成为局限性肌张力障碍和痉挛等病症......
目的探讨发作性运动障碍(PMD)的临床特征及发病机制.方法回顾性分析5例发作性运动诱发舞蹈手足徐动症(PKC)和2例发作性持续运动诱......
目的认识多巴反应性肌张力障碍的临床特征,以期早期诊治,并加深对该病的认识。方法对10例DRD患者进行临床分析。结果10例患者,男3......
目的:分析国人多巴敏感性肌张力障碍(DRD)患者发病与三磷酸鸟苷环化水解酶Ⅰ(GCH-Ⅰ)基因突变的关系.方法:来自3个家庭的5例临床确......
目的探讨婴儿起病的多巴反应性肌张力障碍(DRD)的临床及遗传特征。方法回顾分析2016年4月—2020年6月收治的4例婴儿期起病的DRD患......
目的研究3-硝基丙酸（3-NP）诱发肌张力障碍大鼠相关核团的神经递质变化。方法 24只SD大鼠随机分为对照组和实验组,每组12只。实验组大......
目的：观察不同针刺治疗方案对脑梗死肌张力异常患者 Barthel 指数的影响，初步确定相对较好搭配方案。方法以脑梗死肌张力异常患者90......
目的：探讨穴位埋线治疗脑卒中后肌张力障碍的临床疗效。方法：将60例确诊患者按数字表法随机分为治疗组和对照组,治疗组30例采用穴位......
目的:认识多巴敏感性肌张力障碍的临床特征,以期早期诊治.方法:描述我院发现的一家3例患者的临床表现、实验室检查及治疗效果.结果......
A型肉毒毒素因用于高兴奋性肌肉疾病的有效性而倍受神经内科医生的关注,治疗的方法越来越多,治疗的病种不断扩展,被认为是近几年来......
1临床资料患者因＂双上肢不自主抖动3年余,行走不稳1年＂于2015年10月31日入院。患者诉3年前无明显诱因出现双上肢不自主抖动,静止和用......
书写痉挛是一种原发性、任务特异性、局灶性肌张力障碍，其发病机制主要包括基底节及其连接环路的结构功能障碍、感觉运动系统各层面......
Botulinum neurotoxin(BoNT)is a potent toxin produced by the anaerobic bacterium clostridium botulinum.It causes flaccid,......
原发性肌张力障碍是一种遗传性神经系统疾病，其发病与基因突变有关。其中，DYT1是最常见的突变基因，其结构和致病机制日益明确，这对该病......
Psychogenic dystonia in children is rare and often difficult to distinguish from organic dystonia. It is usually related......
Psychogenic dystonia in children is rare and often difficult to distinguish from organic dystonia. It is usually related......
Structural lesions of CNS, reported to be associated with torticollis, are mostly restricted to cerebellum, brain stem a......
Background: Strumpel disease and dystonia are inherited disorders with the clinical picture of spastic paraparesis and h......
Background: Strumpel disease and dystonia are inherited disorders with the clinical picture of spastic paraparesis and h......
目的 观察苯海索治疗不同亚型不随意运动型脑瘫患儿运动功能的疗效差别。方法 随机选取符合诊断标准的不随意运动型脑瘫患儿36例，所......
Aim of study: This study was carried out to describe characteristics of 22 primary dystonic patients and their response ......
Cervical dystonia (CD) is a condition that typically presents with cervical muscle spasm, producing head tilt and cervic......
Meige syndrome is an idiopathic dystonia characterized by combination of blepharospasm and involuntary movements of the ......
Could Dystonia Be Initial Presentation of Corpus Callosum Infarction in Young Age Patients? A Case R
Focal dystonia in young aged patients is considered to be the uncommon clinical presentation, unless a secondary cause i......
