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…Entity of excessive daytime sleepiness in Parkinson’s disease
Objective: To examine frequency and reasons of excessive daytime sleepiness (EDS) in patients with Parkinson’s disease (PD). Background: Neurodegeneration and dopaminergic medications are known to…
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