A5010971559- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Cancer-related molecular mechanisms research
- Genetic Associations and Epidemiology
- Immunotherapy and Immune Responses
- Amyotrophic Lateral Sclerosis Research
- Xenotransplantation and immune response
- T-cell and B-cell Immunology
- Dermatological and Skeletal Disorders
- Cerebrovascular and genetic disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Lysosomal Storage Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Cellular transport and secretion
- Obstructive Sleep Apnea Research
Beijing Tian Tan Hospital
2022-2025
Capital Medical University
2022-2025
National Clinical Research Center for Digestive Diseases
2025
Fujian University of Traditional Chinese Medicine
2025
Wuhan Institute of Bioengineering
2024
Beijing University of Chinese Medicine
2023
Fujian Medical University
2023
First Affiliated Hospital Zhejiang University
2023
Huashan Hospital
2023
Army Medical University
2023
Neuronal intranuclear inclusion body disease (NIID) is a neurodegenerative with highly heterogeneous clinical manifestations. The present study aimed to characterize features and propose classification system based on large cohort of NIID in China.The Chinese registry was launched from 2017, participants' demographics were recorded. Brain MRI, skin pathologies, the number GGC repeat expansions 5' untranslated region NOTCH2NLC gene evaluated all patients.In total, 223 patients (64.6% female)...
Abstract Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic disorders. The spectrum gLEs varies among patients different ages. Distinct from the relatively more abundant studies in children, only few that explore adult have been published, and it should be noted majority these excluded certain gLEs. Thus, to date, no large study has designed conducted characterize phenotypic spectra patients. We recruited consecutive series 309 clinically suspected Beijing...
Objective Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant genetic disease characterized by the misfolding and deposition of (TTR) protein. This study aimed to describe clinical characteristics ATTRv in a large multicenter Chinese cohort. Methods Patients from 14 centers were included study. The all patients summarized. peripheral blood white cell mitochondrial DNA (mtDNA) was detected offspring different genders. Results A total 202 individuals with 148 families...
Background: To further understand the complex relationship between Obstructive Sleep Apnea (OSA) and ischemic stroke, this study explores role of genetic factors in comorbidity these two conditions. Methods: Based on large-scale available Genome-Wide Association Studies (GWAS) for OSA we conducted a multi-level cross-trait analysis. First, utilized Linkage Disequilibrium Score Regression (LDSC) to analyze correlation diseases. Subsequently, performed analysis identify pleiotropic Single...
Abstract Objective To delineate the characteristics of stroke‐like episodes (SLEs) in patients with adult‐onset neuronal intranuclear inclusion disease (NIID) and to compare these those MELAS. Methods Twenty‐three NIID who presented acute or subacute brain disorders 13 late‐onset MELAS were enrolled study. Patients categorized into SLEs group encephalopathy‐like (ELEs) according associated lesions (SLLs) findings. Clinical compared between ELEs among patients. Results Eleven (47.8%)...
Anti-human T lymphocyte porcine immunoglobulin (p-ATG) is a potent immunosuppressive agent derived from sources used in various immunotherapy applications. It compared with similar products other species, such as rabbit anti-thymocyte globulin (r-ATG) and ATG-Fresenius (ATG-F), which have distinct biological therapeutic properties. This study aims to elucidate the mechanisms of action comparative efficacy p-ATG relation r-ATG ATG-F through comprehensive vitro analysis. A analysis p-ATG, was...
Abstract Movement disorders manifest in various hereditary neurodegenerative diseases. We reported a young man who presented with progressive upper limb dystonia, spastic tetraplegia, and ataxia. Whole‐exome sequencing (WES) revealed novel variant, c.2357A > G, the dynamin domain of OPA1 . No mtDNA deletion was detected muscle by long‐range PCR. Atrophy decreased glucose metabolism basal ganglia were discovered. Decreased copy number, fragmented mitochondria, slightly impaired oxidative...