A5011886791- Lysosomal Storage Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Autism Spectrum Disorder Research
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
Hainan Medical University
2022-2023
Hainan General Hospital
2022-2023
To investigate the clinical phenotype-genotype correlations of a family with Kennedy disease (KD) and improve our understanding disease. KD was confirmed after phenotypic analyses, laboratory tests, polymerase chain reaction assays for cytosine-adenine-guanine (CAG) repeats, neuro-electrophysiological tests. The assessed using KD1234 scale spinal bulbar muscular atrophy functional rating scale. average age onset 30.8 ± 2.85 years. Clinically diagnosed members had 48 CAG repeats (≥35 is...
Parkinson's disease (PD) is a common irreversible neurodegenerative associated with cognitive impairment. To investigate the serum level of phosphatidylinositol-3-kinase (PI3K) and distribution genotypes alleles 3 PI3K single-nucleotide polymorphisms (RS37,30,087, RS37,30,088, RS37,30,089) in PD patients different clinical characteristics. A total 54 50 healthy individuals were recruited. The was measured using enzyme-linked immunosorbent assay. severity assessed modified Hoehn-Yahr scale....