LRRK2 and GBA genetic mutations are not uncommon in an unselected Ashkenazi elderly cohort with PD
Objective: Analysis of positive LRRK2 and GBA gene mutations, demographic characteristics, and family history in 1200 consecutive Ashkenazi patients with PD who had genetic testing…PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability
Objective: To investigate the clinical features and identify the disease-causing gene in a black South African family affected by juvenile-onset parkinsonism and intellectual disability. Background:…Parkinson-related CHCHD2 is necessary for oligomerization of ALS/FTD-related CHCHD10
Objective: Characterization of isogenic CHCHD2, CHCHD10, and CHCHD2/10 double knockout out cell lines with assays of mitochondrial function, mitochondrial sublocalization, and homo- and heterodimerization. Background:…Studying genes involved in abnormalities of the basal ganglia and iron homeostasis using gene co-expression network analysis
Objective: To unravel the disease mechanisms underlying neurodegeneration with brain iron accumulation (NBIA) and to identify potential novel disease genes. Background: NBIA is clinically and…A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer’s disease
Objective: To perform a clinical and a genetic study in an Italian family with a complicated form of hereditary spastic paraplegia (HSP) and Alzheimer’s disease…Analysis of secondary causes in Fahr’s syndrome and whole exome sequencing in Fahr disease from Northeast China and South Korean
Objective: In this study, patients with Fahr syndrome were analyzed for etiology, and genetic testing was performed for patients with Fahr disease from Northeast China…Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia
Objective: To characterize the demographic, clinical and genetic features of HSP and to define the phenotypic spectrum and genotype-specific differences. Background: Hereditary spastic paraplegia (HSP)…Development of nano-formulation containing crocetin for the protective and beneficial effect against 6-hydroxydopamine induced Parkinson’s disease model via altered the genetic backgrounds
Objective: Parkinson’s disease (PD) induced by the interaction between the number of factors viz., aging, genetics toxins, mitochondrial deformity and oxidative stress. Various evidences suggest…Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant
Objective: Describe a family with brain calcifications related to new pathogenic variant of SLC20A2 gene. Background: Three genes are associated with the rare occurrence of autosomal…Antisense FMR1 splice variant and loss of AGG interruptions are predictors of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To evaluate the role of splice patterns of the antisense FMR1 (ASFMR) gene in Fragile X-associated tremor/ataxia syndrome (FXTAS) Background: FXTAS is an inherited…
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