LRP10 variants and Parkinson’s disease in the Chinese population
Objective: LRP10 variants have recently been identified in individuals with familial Parkinson's disease (PD) and dementia with Lewy bodies. We aim to investigate if any…Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification
Objective: To describe the clinical picture of a patient with a large deletion in band 8p11.21p11.1 including SLC20A2 and present a review of patients with a…The role of X-chromosome inactivation in the penetrance of X-linked dystonia-parkinsonism in women
Objective: To investigate whether the combination of the X-linked dystonia-parkinsonism (XDP) haplotype and skewed X-chromosome inactivation (XCI) underlies the penetrance of XDP in women. Background:…Wilson disease: a systematic review and meta-analysis in phenotype – genotype correlations
Objective: To characterize the phenotypic and genotypic spectra in Wilson disease (WD) and to investigate the relationships between the neurological and hepatic phenotypes and the…A family of Phospholipase A2-associated neurodegeneration presented as complicated hereditary spastic paraplegia
Objective: To present reported two siblings of PLAN representing complicated HSP. Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of diseases characterized by…Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10
Objective: Perform a comprehensive clinical characterization and biochemical cerebrospinal fluid (CSF) profile analyses in two Swedish families with hereditary spastic paraparesis 10 (SPG10) caused by…Case Series of 3 Individuals of African Descent with Dentatorubral-Pallidoluysian Atrophy
Objective: To analyze the demographics, genetic history, co-morbidities, and clinical presentation of three individuals of African descent with Dentatorubral-Pallidoluysian Atrophy (DRPLA). Background: DRPLA is a…Synaptic dysfuncion in a Drosophila model of PARK14
Objective: To investigate the association between lipid metabolism and synaptic function in Parkinson's disease (PD) due to PLA2G6 mutations. Background: The nervous system is enriched…Effectiveness of exome sequencing in Parkinson’s disease of Chinese population
Objective: The aim of this study was to evaluate rare damaging variants in disease-causing gene of Parkinson’s disease (PD) and other movement disorders, and to…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:…
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