Establishing a Natural History of X-linked Dystonia Parkinsonism
Objective: Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease…Multimodal imaging analysis of autosomal recessive Parkinson’s disease.
Objective: To explore whether autosomal recessive forms of monogenic PD (mPD) might lead to cortical and white matter (WM) abnormalities in addition to dopaminergic denervation.…ASYMMETRIC EARLY-ONSET PARKINSONISM DUE TO PSEN1 MUTATION
Objective: To report a novel case of early-onset parkinsonism due to a presenilin 1 gene (PSEN1) mutation. Background: Mutations in PSEN1 gene are the most…Atypical parkinsonism related to a rare variant in the PLA2G6 gene
Objective: To describe a patient with atypical parkinsonism, carrier of a rare PLA2G6 gene variant. Background: PLA2G6-associated neurodegeneration (PLAN) results from mutations in PLA2G6 gene…Comorbidities in Huntington’s disease: An Enroll-HD analysis
Objective: Determine the frequency of comorbidities in people with Huntington’s disease (PwHD) in comparison to non-carrier controls in the Enroll-HD cohort. Background: Despite some publications…Development of a quality-of-life (QoL) questionnaire for hereditary spastic paraplegia (HSP) patients and caregivers.
Objective: Patient reported outcomes like “Health-Related Quality of Life” are one of the key outcome parameters of clinical studies. The aim of this project within…Merging global cohorts of manifesting and non-manifesting carriers of pathogenic variants in known Parkinson’s disease genes
Objective: To create a global cohort of manifesting and non-manifesting carriers of pathogenic variants in known monogenic Parkinson's disease (PD) genes, such as LRRK2, PRKN, and PINK1, to better…Biochemical markers of glucocerebrosidase (GCase) deficiency in primary macrophages derived from GBA1 mutation carriers with and without Parkinson’s disease
Objective: The aim of the present study was to assess biochemical markers in primary macrophages that could distinguish patient with Parkinson’s disease linked to mutations…Whole exome sequencing identifies novel variants underlying Ataxia with Oculomotor Apraxia type 1 in Pakistani consanguineous families
Objective: To investigate the underlying pathogenic variants in four consanguineous Pakistani families segregating Ataxia with Oculomotor Apraxia type 1 Background: Ataxia with Oculomotor Apraxia type 1…Gene and variant curation of Parkinson’s disease genes by an authoritative expert panel
Objective: Establish an authoritative central curation for causative genes and variants for Parkinson’s disease (PD) Background: The urgency to establish central curation for causative genes…
- « Previous Page
- 1
- …
- 4
- 5
- 6
- 7
- 8
- …
- 16
- Next Page »