Interest of multiplex ligation-dependent probe amplification assay to identify pathogenic mutations in Parkinson’s disease patients
Objective: To evaluate the interest of the MLPA (Multiplex Ligation-dependent Probe Amplification) commercially available kit in the genetic testing in Parkinson’s disease (PD). Background: PD…LRRK2 p.G2019S and p.N2081D variants as modifiers of glucocerebrosidase activity
Objective: To examine whether the activity of the lysosomal enzyme glucocerebrosidase (GCase) is associated with LRRK2 variants. Background: Mutations in GBA (which encodes GCase) and…LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Detecting genetic and environmental modifiers of penetrance and disease expression
Objective: The international multicenter LIPAD study is a deep-phenotyping, follow-up study to ROPAD (Rostock Parkinson’s Disease Study) with the aim to systematically characterize Parkinson's disease…Characterizing Global Cohorts with Monogenic Parkinson’s Disease
Objective: To clinically and genetically characterize a global sample of subjects with monogenic Parkinson’s disease (mPD) and unaffected mutation carriers. Background: Publications on patients with…The role of peripheral T- and B-lymphocytes in LRRK2-mediated Parkinson’s disease
Objective: To test the hypothesis the neurodegenerative cascade in the CNS that leads to Parkinson’s disease (PD) is initiated by signals emanating from the peripheral…Distinct compensatory and maladaptive wiring patterns in genotypic Parkinson’s disease
Objective: Although disease networks have been identified in Parkinson’s disease (PD) using functional imaging, it is unclear whether these represent maladaptive or compensatory responses to…Parkinson’s disease patients with both GBA and LRRK2 mutations are phenotypically similar to LRRK2 – a possible protective effect?
Objective: To compare the phenotype of patients with Parkinson's disease (PD) who carry dual mutation in both LRRK2 and GBA genes with patients with PD…Assessing the response to Levodopa/carbidopa intestinal gel infusion based on genetic status
Objective: The aim of this study was to characterize patients with Parkinson's disease (PD) on Levodopa/carbidopa intestinal gel infusion (LCIG) treatment based on their genetic…Longitudinal CSF-profile and brain pathology mirrors clinical course of LRRK2-Related Parkinson’s Disease
Objective: Do clinical cognitive profiles and CSF characterisitcs of Abeta1_42, total-tau, phospho-tau and alpha-synuclein during lifetime correspond to histopathological findings post-mortem in LRKK2-associated Parkinson’s disease…Increased level of a lysosomal phospholipid, BMP, in urine of LRRK2 G2019S mutation carriers with or without Parkinson’s disease: implications for therapeutic development
Objective: To study alterations in urinary phospholipids as biomarkers of LRRK2 mutations and Parkinson’s disease (PD) status. Background: LRRK2 mutations are a common cause of…
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