NSTL国家科技图书文献中心

1. LRRK2 gene G2019S mutation and SNPs (haplotypes) in subtypes of Parkinson's disease. SCIE Web of Science核心 NSTL国家科技图书文献中心

Patra B | Parsian AJ ... - 《Parkinsonism & related disorders》 - 2009,15(3) - 175～180 - 共6页

摘要：Mutation within the leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a cause of autosomal dominant Parkinson's disease (PD). The purpose of this study was to determine the frequency of...

关键词： Age of Onset | Aged | 80 and over | DNA Mutational Analysis | European Continental Ancestry Group | 发病年龄 | 老年人 | 80以上 | DNA突变分析 | 基因频率...

2. Prospective study examining remote effects of botulinum toxin a in children with cerebral palsy. SCIE Web of Science核心 NSTL国家科技图书文献中心

Crowner BE | Racette BA - 《Pediatric neurology》 - 2008,39(4) - 253～258 - 共6页

摘要：We examined the remote effects on muscle strength and functional decline of lower-extremity botulinum toxin A injections in children with cerebral palsy. This prospective study enrolled 34 children (1...

关键词： Child | Cerebral Palsy | Botulinum Toxins | Extremities | Muscle strength | 儿童 | 脑性瘫痪 | 肉毒毒素类 | 四肢

3. Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease. SCIE Web of Science核心 NSTL国家科技图书文献中心

Li Y | Grupe A ... - 《Human Molecular Genetics》 - 2008,17(5) - 759～767 - 共9页

摘要：Late-onset Alzheimer's disease (LOAD) and Parkinson's disease (PD) are the most common neurodegenerative disorders and in both diseases susceptibility is known to be influenced by genes. We set out to...

关键词： Adaptor Proteins | Signal Transducing | Age of Onset | Aged | Alleles | Alzheimer Disease | 发病年龄 | 老年人 | 等位基因 | 病例对照研究...

4. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. SCIE Web of Science核心 NSTL国家科技图书文献中心

DeStefano AL | Latourelle J ... - 《Human Genetics》 - 2008,124(1) - 95～99 - 共5页

摘要：Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian pop...

关键词： Age of Onset | Aged | Cohort Studies | Databases | Genetic | Female | Gene Frequency | 发病年龄 | 老年人 | 队列研究...

5. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. SCIE Web of Science核心 NSTL国家科技图书文献中心

McNicoll CF | Latourelle JC ... - 《Movement disorders》 - 2008,23(11) - 1596～1601 - 共6页

摘要：The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicate...

关键词： PUPILLARY DISTANCE | Huntington Disease | SIZES | Age of Onset | 发病年龄

6. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. SCIE Web of Science核心 NSTL国家科技图书文献中心

Tobin JE | Latourelle JC ... - 《Neurology: Official Journal of the American Academy of Neurology》 - 2008,71(1) - 28～34 - 共7页

摘要：BACKGROUND: Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease (PD). We evaluated the associat...

关键词： PUPILLARY DISTANCE | Haplotypes | Gene Expression | Growth hormone measurement | 单元型 | 基因表达 | 危险

7. Iatrogenic botulism due to therapeutic botulinum toxin a injection in a pediatric patient. SCIE Web of Science核心 NSTL国家科技图书文献中心

Crowner BE | Brunstrom JE ... - 《Clinical neuropharmacology》 - 2007,30(5) - 310～313 - 共4页

摘要：Botulinum toxin A is commonly used to reduce spasticity and dystonia in children with cerebral palsy. We report a pediatric patient who developed systemic botulism as a result of a severe overdose of ...

关键词： Botulinum Toxins | Patients | Botulism | Iatrogenic | Therapeutic | 肉毒毒素类 | 病人 | 肉毒中毒

8. High dose botulinum toxin A for the treatment of lower extremity hypertonicity in children with cerebral palsy. SCIE Web of Science核心 NSTL国家科技图书文献中心

Willis AW | Crowner B ... - 《Developmental Medicine and Child Neurology》 - 2007,49(11) - 818～822 - 共5页

摘要：The aim of this study was to determine the safety profile of high dose (15-25 units/kg) of botulinum toxin A (BTX-A) in children with cerebral palsy (CP) and increased lower extremity muscle tone. We ...

关键词： Botulinum Toxin Type A | Cerebral Palsy | Child | Dose-Response Relationship | Drug | 肉毒杆菌毒素 | A型 | 脑性瘫痪 | 儿童 | 剂量效应关系...

9. Association of alpha-synuclein gene haplotypes with Parkinson's disease. SCIE Web of Science核心 NSTL国家科技图书文献中心

Parsian AJ | Racette BA ... - 《Parkinsonism & related disorders》 - 2007,13(6) - 343～347 - 共5页

摘要：In a previous study, we detected an association between a dinucleotide repeat (Rep1) in the alpha-Synuclein (SNCA) gene and sporadic Parkinson's disease (PD). To extend our previous finding in a large...

关键词： PUPILLARY DISTANCE | Genes | Parkinson Disease | Haplotypes | 基因 | 帕金森病 | 单元型

10. The impact of litigation on neurologic research. SCIE Web of Science核心 NSTL国家科技图书文献中心

Racette BA | Bradley A ... - 《Neurology: Official Journal of the American Academy of Neurology》 - 2006,67(12) - 2124～2128 - 共5页

摘要：Environmental factors likely contribute to the etiology of many progressive neurologic diseases. Such factors include putative neurotoxins that are often byproducts of commercial industries, potential...