Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations [0.03%]
尼曼匹克C病意大利患者NPC1和NPC2基因的分子分析及新突变的鉴定与结构建模
Tatiana Fancello,Andrea Dardis,Camillo Rosano et al.
Tatiana Fancello et al.
Niemann-Pick C, the autosomal recessive neuro-visceral disease resulting from a failure of cholesterol trafficking within the endosomal-lysosomal pathway, is due to mutations in NPC1 or NPC2 genes. We characterized 34 unrelated patients inc...
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes [0.03%]
CDKL5基因的新突变及其预测效应和相关表型
S Russo,M Marchi,F Cogliati et al.
S Russo et al.
It has been found that CDKL5 gene mutations are responsible for early-onset epilepsy and drug resistance. We screened a population of 92 patients with classic/atypical Rett syndrome, 17 Angelman/Angelman-like patients and six idiopathic aut...
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas [0.03%]
NF1脊髓神经纤维瘤患者的体细胞和胚系NF1突变谱型分析
Meena Upadhyaya,Gill Spurlock,Lan Kluwe et al.
Meena Upadhyaya et al.
Neurofibromatosis type 1 (NF1) is a common inherited complex multi-system disorder associated with the growth of various benign and malignant tumors. About 40% of NF1 patients develop spinal tumors, of whom some have familial spinal neurofi...
Association between migraine and a functional polymorphism at the dopamine beta-hydroxylase locus [0.03%]
多巴胺β-羟基酶基因多态性与偏头痛的相关性研究
F Fernandez,N Colson,S Quinlan et al.
F Fernandez et al.
Migraine is a common neurological disorder with a significant genetic component. Although a number of linkage and association studies have been undertaken, the number and identity of all migraine susceptibility genes has yet to be defined. ...
A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease [0.03%]
一例苏丹早发性帕金森病家系的PINK1基因复杂纯合大片段重组变异
Cécile Cazeneuve,Channkanira Sân,Salah A Ibrahim et al.
Cécile Cazeneuve et al.
PARK2 and PINK1 gene mutations are involved in recessive early onset Parkinson's disease (EOPD). In order to determine the causative mutations in three affected sibs from a consanguineous Sudanese family with EOPD, multiplex ligation-depend...
B M Anderson,N C Schnetz-Boutaud,J Bartlett et al.
B M Anderson et al.
Autism is characterized as one of the pervasive developmental disorders, a spectrum of often severe behavioral and cognitive disturbances of early development. The high heritability of autism has driven multiple efforts to identify genetic ...
Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1 [0.03%]
SPG21蛋白ACP33/maspardin与醛脱氢酶ALDH16A1的相互作用
Michael C Hanna,Craig Blackstone
Michael C Hanna
Mast syndrome (SPG21) is an autosomal-recessive complicated form of hereditary spastic paraplegia characterized by dementia, thin corpus callosum, white matter abnormalities, and cerebellar and extrapyramidal signs in addition to spastic pa...
A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype [0.03%]
携带LRRK2基因G2019S突变的土耳其人共享日本人的同源谱系型
C Pirkevi,S Lesage,C Condroyer et al.
C Pirkevi et al.
The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all...
Whole-genome conditional two-locus analysis identifies novel candidate genes for late-onset Parkinson's disease [0.03%]
全基因组条件两基因分析鉴定出新型候选基因以供研究晚发性帕金森病
A González-Pérez,J Gayán,J Marín et al.
A González-Pérez et al.
Whole-genome epistasis analysis may add a new layer of knowledge to whole-genome association studies, permitting the identification of new candidate genes which are completely transparent during conventional single-locus analysis. We presen...