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…GBA p.Glu326Lys substitution increases the risk to develop Parkinson’s disease; is it enough to affect disease phenotype?
Objective: To evaluate the frequency of GBA p.Glu326Lys (E326K) carriers in a large cohort of Parkinson's disease patients of Ashkenazi Jewish origin (AJPD) and to…Targeted deep sequencing of brain DNA for detection of somatic point mutations in synucleinopathies
Objective: To detect relevant somatic "point mutations" (single nucleotide variants- SNVs) in brain-derived DNA in synucleinopathies. Background: There is increasing recognition that neurons may harbour…Effect of polygenic load on striatal dopaminergic deterioration in Parkinson’s disease
Objective: To investigate the longitudinal association between PD-associated polygenic load and the striatal dopaminergic activity using 123I-N-3-fluoropropyl-2-beta-carboxymethoxy-3beta-(4-iodophenyl) nortropane (123I-FP-CIT) single photon emission computed tomography (SPECT).…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…Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Objective: We aimed to characterize cognitive functions of patients with pure and complicated HSP, and to determine the frequency of abnormal cognitive performances in the…Clinical outcome in early-treated Sepiapterine Reductase Deficiency (SRD): A case report
Objective: To report the outcome of a 6.3-year-old girl with SRD diagnosed and treated since the fifth month of life. Background: Sepiapterin reductase deficiency (SRD)…MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs
Objective: To better understand access to genetic testing at the international level. Background: One of the objectives of the Rare Diseases Study Group (RDSG) of…Prevalence of Restless Leg Syndrome in the general population of Montevideo, Uruguay in 2018
Objective: A transverse study was projected in order to determine the prevalence of Restless Leg Syndrome in the general population of Montevideo, estimate the severity…
- « Previous Page
- 1
- …
- 144
- 145
- 146
- 147
- 148
- …
- 217
- Next Page »