Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation [0.03%]
早发常染色体显性遗传型阿尔茨海默病家系中存在.presenilin-1基因I143T突变的病例及基因表型相关性分析
Noritoshi Arai,Atsushi Kishino,Yuji Takahashi et al.
Noritoshi Arai et al.
Case Reports
Neurogenetics. 2008 Feb;9(1):65-7. DOI:10.1007/s10048-007-0104-2 2008
Identification and characterization of a new alpha-synuclein isoform and its role in Lewy body diseases [0.03%]
α-突触核蛋白新亚型的鉴定、表征及其在路易体疾病中的作用
Katrin Beyer,Montserrat Domingo-Sábat,José I Lao et al.
Katrin Beyer et al.
Alternative splicing is an important mechanism to generate a large number of mRNAs, thus increasing proteome diversity and tissue specificity. Three transcript variants of alpha-synuclein, a neuronal protein mainly involved in synapses, hav...
Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease [0.03%]
晚发性家族性阿尔茨海默病的加勒比西班牙裔患者发病年龄的连锁分析
Joseph H Lee,Sandra Barral,Rong Cheng et al.
Joseph H Lee et al.
The aim of the study was to identify chromosomal regions that may harbor putative genetic variants influencing age at onset in familial late-onset Alzheimer's disease (LOAD). Data from a genome-wide scan that included genotyping of APOE wer...
ABCB1 c.3435 C > T (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings report [0.03%]
阿尔及利亚癫痫患者中ABCB1 c.3435 C > T（rs1045642）作为卡马西平疗效和毒性的生物标志物：初步研究报道
Epilepsy is among the most prevalent serious neurological disorders, affecting over 70 million people worldwide, in Algeria, the prevalence of epilepsy was estimated to be eight times more common. Carbamazepine is frequently the first-line ...