Northwestern University Feinberg School of Medicine Parkinson’s disease and Movement Disorders Center Biorepository: bringing the clinic and lab together
Objective: To establish a biobank of DNA and tissue samples from a population of movement disorder patients, their family members and healthy controls recruited from…Clinical and genetic profile of Familial Parkinson´s disease in Cali – Colombia
Objective: This study aims to describe the genetic and clinical profile of 32 subjects with familial PD using NGS genetic panel and eMotion software system…BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson’s disease
Objective: We aimed to explore effects of bone marrow stromal cell antigen‐1 (BST1) rs4698412 allelic variant on brain activation and associative clinical symptoms in Parkinson’s…Evaluating IL6 and mitochondrial DNA levels as a potential biomarker in carriers of Parkin and PINK1 mutations
Objective: To discriminate affected PARK-Parkin and PARK-PINK1 mutation carriers from idiopathic Parkinson’s disease (PD) patients and healthy controls using serum IL-6 and mtDNA levels. Background:…Identification of aberrant circulating miRNAs in Parkinson’s disease plasma samples
Objective: To detect the aberrant expression of circulating miRNAs and explore thepotential early diagnostic biomarkers in patients with Parkinson’s disease (PD). Background: In the past…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…Fine-mapping of SNCA variants in REM sleep behavior disorder identifies distinct associations
Objective: a). Identify variants in the SNCA locus which affect risk for REM Sleep Behavior Disorder (RBD). b). Test variant effects on rate and type…Clinicopathologic Characterization and Abnormal Autophagy of HDLS
Objective: We aimed to investigate clinical and pathological characteristics in hereditary diffuse leukoencephalopathy with spheroids (HDLS) patients and explore the potential impact of colony-stimulating factor…Role of APOE ε4 status and Sex on Somatosensory Integration and Dual-Task Cost in Parkinson’s disease
Objective: To determine whether ε4 status relates to impaired somatosensory integration deficits in males more than females in people with Parkinson’s disease (PwPD). Background: Previous…Chitotriosidase is a biomarker for Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)
Objective: ALSP belongs to the large group of rare neurogenetic, adult-onset leukodystrophies. For most of these leukodystrophies, including ALSP, no causative treatment exists. Biomarkers facilitate…
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