Automated assessment of advanced motor Parkinson’s disease; a pilot study of the Parkinson’s KinetiGraph as an objective tool for measurement of motor fluctuations
Objective: To evaluate the utility of the Parkinson's KinetiGraph (PKG) as a tool in advanced Parkinson's disease (PD) to determine need for treatment change by…De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions
Objective: To identify the underlying genetic abnormality in three sporadic unrelated cases presenting with chorea and bilateral striatal abnormalities on cerebral MRI. Background: Chorea is…Hyperekplexia secondary to cumulative novel glycine pathway mutations
Objective: To describe novel mutations in a case of hyperekplexia, the patient's clinical presentation and possible pathophysiological mechanism. Background: Hyperekplexia is a rare neurological disorder…In utero delivery of scAAV9 mediates widespread brain transduction in rats and monkeys: Towards new models of Parkinson’s disease
Objective: Our objective was to create transgenic mammals using systemic delivery of adeno-associated virus serotype 9 (AAV2/9). Background: The adeno-associated virus serotype 9 (AAV2/9) crosses…E326K GBA polymorphism and Parkinson’s disease in Russian population
Objective: Analysis the associations between the polymorphism E326K of the glucocerebrosidase gene (GBA) and Parkinson's disease (PD) in Russian population. Background: Parkinson's disease is one…Genetic Identification of early-onset parkinsonism among Norwegian patients
Objective: To investigate the genetic etiology of early-onset (AAO > 45 Years) parkinsonism. Background: Parkinsonism is a neurological syndrome characterized by resting tremor, rigidity, bradykinesia…Clinical exome sequencing – diagnostic yield in a sample of German patients with Parkinson’s disease
Objective: To assess the diagnostic yield of clinical exome sequencing (CES) in individuals with Parkinson's disease (PD) seen in a specialized movement disorder clinic. Background:…Triple X syndrome: Are tremors part of its phenotype?
Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPi
Objective: We present a novel homozygous PLA2G6 mutation and response to Deep Brain Stimulation (DBS). Background: Neurodegeneration with brain iron accumulation (NBIA) type 2/PLA2G6 is…Staging and clinical correlates of cortical thinning in Parkinson’s disease
Objective: By using a novel disease staging model to investigate the progression and clinical associations of cortical thinning in Parkinson's disease (PD) patients. Background: The…
- « Previous Page
- 1
- …
- 119
- 120
- 121
- 122
- 123
- …
- 207
- Next Page »