Association of dopamine transporter and monoamine oxidase molecular polymorphisms with sudden infant death syndrome and stillbirth: new insights into the serotonin hypothesis [0.03%]
多巴胺转运体和单胺氧化酶分子多态性与婴儿猝死综合征及胎死宫内的关联：关于血清素假说的新见解
Laura Filonzi,Cinzia Magnani,Anna Maria Lavezzi et al.
Laura Filonzi et al.
Recent findings demonstrated the role of neurotransmitters in the aetiopathogenesis of sudden unexpected deaths in infancy. Although genes involved in serotonin metabolism have been proposed as risk factors for sudden infant death syndrome ...
Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders [0.03%]
诱导多能干细胞(iPS细胞)作为人类神经遗传病的体外模型
Stormy J Chamberlain,Xue-Jun Li,Marc Lalande
Stormy J Chamberlain
The recent discovery of genomic reprogramming of human somatic cells into induced pluripotent stem cells offers an innovative and relevant approach to the study of human genetic and neurogenetic diseases. By reprogramming somatic cells from...
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization [0.03%]
应用高分辨率比较基因组杂交法鉴定SPG11患者的异染色体基因spatacsin的纯合子基因缺失
Peter Bauer,Beate Winner,Rebecca Schüle et al.
Peter Bauer et al.
Mutations in the spatacsin gene have recently been identified as the genetic cause of autosomal-recessive spastic paraplegia (SPG) with thin corpus callosum, mapping to chromosome 15p13-21. While several nonsense and frameshift mutations as...
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22 [0.03%]
双侧枕部多小脑回症候群的基因定位映射至第六对染色体短臂端粒区;q16-q22区域
Bouchra Ouled Amar Ben Cheikh,Stéphanie Baulac,Fatiha Lahjouji et al.
Bouchra Ouled Amar Ben Cheikh et al.
We describe the clinical, radiographic, and genetic features of a large consanguineous Moroccan family in which bilateral occipital polymicrogyria segregated as an autosomal recessive trait. Six affected members of the family had partial co...
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles [0.03%]
意大利沙保病患者HEXB基因的分子及功能分析：鉴定出6种新型突变型
Stefania Zampieri,Mirella Filocamo,Emanuele Buratti et al.
Stefania Zampieri et al.
We report the molecular characterization of 12 unrelated Italian patients affected with Sandhoff disease (SD), a recessively inherited disorder caused by mutations in HEXB gene. We identified 11 different mutations of which six are novel: o...
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population [0.03%]
Parkinsson病风险因子LRRK2(Arg1628Pro变异)的遗传学研究
Chin-Song Lu,Yah-Huei Wu-Chou,Marina van Doeselaar et al.
Chin-Song Lu et al.
The c.G4883C variant in the leucine-rich repeat kinase 2 (LRRK2) gene (protein effect: Arg1628Pro) has been recently proposed as a second risk factor for sporadic Parkinson's disease in the Han Chinese population (after the Gly2385Arg varia...
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease [0.03%]
帕金森病韩国患者的PARK基因分析
Jung Mi Choi,Myoung Soo Woo,Hyeo-Il Ma et al.
Jung Mi Choi et al.
Mutations in five PARK genes (SNCA, PARKIN, DJ-1, PINK1, and LRRK2) are well-established genetic causes of Parkinson disease (PD). Recently, G2385R substitution in LRRK2 has been determined as a susceptibility allele in Asian PD. The object...
Multicenter Study
Neurogenetics. 2008 Oct;9(4):263-9. DOI:10.1007/s10048-008-0138-0 2008
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12 [0.03%]
E Chouery,J Kfoury,V Delague et al.
E Chouery et al.
Primary torsion dystonia is a clinically and genetically heterogeneous group of movement disorders. Fifteen different types of dystonia have been described to date, of whom 14 loci have been mapped, but only seven genes identified. Several ...
Case Reports
Neurogenetics. 2008 Oct;9(4):287-93. DOI:10.1007/s10048-008-0142-4 2008
Pierre-Louis Leger,Isabelle Souville,Nathalie Boddaert et al.
Pierre-Louis Leger et al.
Lissencephaly spectrum (LIS) is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. Approximately 80% of patients with the LIS spectrum carry mutations in either the LIS1 o...
Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease [0.03%]
Dana B Hancock,Eden R Martin,Jeffery M Vance et al.
Dana B Hancock et al.
Nitric oxide synthase (NOS) genes (NOS1, NOS2A, and NOS3) may create excess nitric oxide that contributes to neurodegeneration in Parkinson's disease (PD). NOS genes might also interact with one another or with environmental factors in PD. ...
Multicenter Study
Neurogenetics. 2008 Oct;9(4):249-62. DOI:10.1007/s10048-008-0137-1 2008