Ataxia相关论文
Amyotrophic lateral sclerosis is a relentlessly progressive multi-system condition. The clinical picture is dominated by......
目的:分析1例表现肌病和小脑萎缩共济失调患儿的遗传学病因。方法:对患儿进行临床和实验室检查，应用全外显子二代测序技术对患儿进......
Introduction::Glucose transporter type 1 (Glut1) deficiency syndrome is a treatable neurometabolic disorder characterize......
...
Variation in the autophagic beclin-1 (BECN1) has a potential to modify onset of Machado-Joseph disea
Autophagy, as a process of lysosomal-dependent intracellular components degradation, is especially important in disorder......
BACKGROUND Cockayne syndrome(CS)is a rare inherited disease characterized by progressive motor symptoms including muscle......
SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebe
Loss-of-function mutations in sorting nexin 14(SNX14)cause autosomal recessive spinocerebellar ataxia 20,which is a form......
Key facts Synonym:Siderosis.Definition:Hemosiderin staining of leptomenginges following repeated subarachnoid hemorrhage......
Case Report:Congenital spinal intradural arachnoid cyst associated with intrathoracic meningocele in
Congenital spinal intradural arachnoid cyst associated with intrathoracic meningocele is very rare.We report a case in a......
We report a case of heat stroke induced acute cerebellar dysfunction, a rare neurological disease characterized by gross......
Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing er
Autosomal recessive cerebellar ataxias(ARCA) are a clinically and genetically heterogeneous group of rare neurodegenerat......
1例36岁女性癫痫患者连续10年口服卡马西平(0.4 g、2次/d，血药浓度维持在5.5～9.5 μg/ml)，因喘憋伴感染给予环酯红霉素0.5 g、2次/d口......
1例63岁、有10年慢性阻塞性肺疾病史的女性患者从2013年1月至2015年1月口服复方妥英麻黄茶碱片2片，3次/d。2014年4月(用药16个月)首......
1例79岁女性患者，因慢性阻塞性肺疾病口服复方妥英麻黄茶碱片2片，2次/d。用药2个月间断出现头面部不自主运动；用药9个月间断出现头晕，......
1例70岁男性慢性阻塞性肺疾病患者口服复方妥英麻黄茶碱(每片含苯妥英钠50 mg，马来酸氯苯那敏1 mg，盐酸麻黄碱5 mg，咖啡因7.5 mg，可可......
本文系用短期双盲交替试验研究口服氯化胆碱治疗小脑与脊髓小脑共济失调的研究报告.共计20例,均在试验开始前进行严格的诊断评定,......
急性小脑性共济失调(Acute cerebellar ataxia)是小儿时期比较少见的一种综合征。病变以局限性小脑炎为主,亦可能有脑干受累。临......
Friedreich共济失调(Friedreich ataxia)是指发生于脊髓—小脑—脑干系统的一组变性疾病,常为家系遗传。国内报告少,容易误诊。笔......
High frequency and error-prone DNA recombination in ataxia telangiectasia cell lines...
High frequency and er......
Ｔｒｉｎｕｃｌｅｏｔｉｄｅｒｅｐｅａｔｅｘｐａｎｓｉｏｎｏｆｓｐｉｎｏｃｅｒｅｂｅｌａｒａｔａｘｉａ（ＳＣＡ１）ｆｏｕｎｄｉｎａＣｈｉｎｅｓｅｆａｍｉｌｙＣａｉＴａｏ蔡涛，ＹｕＰｉｎｇ喻萍，ＣｈｅｎＸｉａｎｇ陈翔ａｎｄＬｏｐａＭｉｓｈｒａＬａｂｏｒａ...
Trinucleotiderepeatexpansionofspinocerebelarataxia (SCA1) foundinaChinesefamilyCaiTao Cai Tao, YuPing Y......
期刊
急性小脑性共济失调(acute cerebellar ataxia,ACA)是一组少见的临床综合征,病变以小脑为主,少数病例也可累及脑干。以往认为好发......
Ataxia and walking disorder improved by capsulae natrii perulatis coupositate in patients with verte
INTRODUCTIONDelayednerveconductionisverycommonafterbraininjuryinducedbyvertebrobasilar－arteryinsufficiencyresultingininco......
Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese ca
Background Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of neurodegenerative disor......
神经元核内包涵体 (neuronalintran ulearinclusions,NIIs)是遗传性神经变性疾病的一种重要的病理表现 ,尤其在三核苷酸重复疾病 (......
Ataxia telangiectasia (AT) is a rare human disease characterized by extreme cellular sensitivity to radiation and a pre......
发作性共济失调(episodic ataxia)又称为周期性共济失调,是临床上罕见的小脑性共济失调。通常为常染色体显性遗传,离子通道基因突......
Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and cl
Background Dominantly inherited spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous group of neur......
Background Microvascular Decompression (MVD) operation is the most reliable treatment for hemifacial spasm (HFS), but it......
目的探索线粒体DNA部分点突变与遗传性共济失调(hereditary ataxia,HA)的关系。方法对广西壮族自治区第二人民医院神经内科和广西......
Development of autoimmune hepatitis type 1 after pulsed methylprednisolone therapy for multiple scle
A 43-year-old woman with multiple sclerosis (MS) was treated with pulsed methylprednisolone and interferon β at a hospi......
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive, currently untreatable and ultimately f......
This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccur......
Characterization of disease models of neurodegenerative disorders requires a systematic and comprehensive phenotyping in......
The human glutamate receptor delta 2 gene (GRID2) shares 90%homology with the orthologous mouse gene. The mouse Grid2 ge......
目的评价丁苯酞治疗神经系统变性病及遗传性疾病的临床效果。方法选取2012年3月—2015年3月收治的神经系统变性病及遗传性疾病患者......
目的观察丁螺环酮治疗小脑性共济失调的疗效。方法小脑性共济失调患者205例,随机分为两组:对照组95例,给予常规治疗及综合康复训练......
The Sensitization of Anti-Cancer Therapy by Squalene and Schisandrin Through the Modulation of DNA D
ATM(ataxia telangiectasia mutated)and ATR(AT and Rad3 related)protein kinases play a crucial role in cellular DNA damage......
Cellular response to genotoxic stress is a very complexprocess,and it usually starts with the “sensing” or “detectio......
因未及时识别小儿共济失调而误认为一般性脑炎或结核性脑膜炎等并非少见,故应重视。共济失调(ataxia,下简称At),是指在随意运动中......
Ataxia telangiectasis is caused by ataxia telangiectasia mutant(ATM) gene and it is characterized by hypersensitivity to......
adult respiratory distress syndrome,ARDS 成人型呼吸窘迫综合征 chronic non-suppurative destructive cholangitis,CNSDC慢性......
该文从挂篮荷载计算、施工流程、支座及临时固结施工、挂篮安装及试验、合拢段施工、模板制作安装、钢筋安装、混凝土的浇筑及养生......
目的分析脑腱黄瘤病(CTX)患者的临床特点，提高医务工作者对该病的认识。方法收集首都医科大学宣武医院神经内科于2018年3月收治的2......
Ataxias are rare diseases and the etiologic heterogeneity make individual entities even rarer. There are still substanti......
BACKGROUND Type 1 sialidosis,also known as cherry-red spot-myoclonus syndrome,is a rare autosomal recessive lysosomal st......
目的观察多系统萎缩小脑型(MSA-C)患者运动诱发电位(MEP)与健康人群的差异,并探讨MSA患者MEP参数与共济失调严重程度相关性。方法......
