A Patient with Overlapping SPG7 mutation and MERRF
Objective: To describe the first case of concomitant spastic paraplegia type 7 (SPG7) and myoclonic epilepsy with ragged red fibers (MERRF) in a patient with…Laboratory changes of the liver function in the patients with Wilson’s disease
Objective: Wilson's disease (WD) is a chronic progressive neurodegenerative disease with a genetically determined disorder of copper metabolism due to mutations in the ATP7B gene,…Wilson’s Disease : A Senegalese Series of Seven Patients Followed at Pikine National Hospital Centre (Dakar-Senegal)
Objective: The aim of this study is to describe the epidemiological, diagnostic, therapeutic and evolutionary characteristics of Wilson's disease and to highlight the diagnostic and…A new phenotype-genotype correlation for FIG4 gene and Parkinson’s disease
Objective: We present a patient with atypical Parkinson’s disease (PD), carrying a homozygous missense mutation of FIG4. Background: FIG4 is involved in endosomal-lysosomal trafficking and…5HTTLPR (44bp Ins/Del) polymorphism: Serotonergic subtype of Parkinson’s Disease
Objective: To find out the association of 5HTTLPR (44bp Ins/Del) polymorphism with PD neurotransmitter subtypes Background: Parkinson’s Disease (PD) can be sub divided into serotonergic,…A UK-wide Effort for Identification of Loci for Autosomal Dominant Parkinson’s Disease
Objective: (i) To describe the demographic, clinical and genetic features of a large cohort of familial autosomal dominant Parkinson’s disease (PD) patients in the UK.(ii)…Slc2a13, a risk gene for Parkinson’s disease associated with Snca and Lrrk2
Objective: To exploit the potential function of the risk gene Slc2a13 in PD progression. Background: 越来越多的证据证实了总体遗传位点和候选基因对帕金森病的贡献，以及两个最确定的风险基因，即α-突触核蛋白（Snca）和富含亮氨酸的重复激酶2（Lrrk2）。Slc2a13 编码哺乳动物肌醇转运蛋白，被认为是一种群体依赖性风险基因。越来越多的证据支持这样一种观点，即 Slc2a13 活性的改变强调了 PD 的发展。剖析转运蛋白活性降低如何导致多巴胺能神经元变性和丧失，可能会进一步加深我们对功能的理解。 Method: A total of 338 cases…Implications of BSCL2 Mutation in the Pathogenesis of Parkinson’s Disease
Objective: To report a case of a probable association between a mutation in the BSCL2 gene (Berardinelli-Seip Congenital Lipodystrophy 2) and Parkinson's disease (PD). Background:…Association of Gaucher-related and Parkinson’s-private GBA1 variants with progression of PD: A longitudinal mixed model analysis.
Objective: To compare progression of motor- and non-motor symptoms in people with Parkinson’s disease (PD) with Gaucher-related gene glucocerebrosidase (GBA1) variants compared to people with…Prevalence of Parkinson’s Disease and Possible Parkinsonian Syndrome in Gaucher Disease: Data From the ICGG Gaucher Registry
Objective: To estimate the age-specific risk of Parkinson’s disease (PD) and possible parkinsonian syndrome (pPS) in Gaucher disease (GD) based on registry data. Background: While…
- « Previous Page
- 1
- …
- 519
- 520
- 521
- 522
- 523
- …
- 1942
- Next Page »