Genetic panel testing in Parkinson’s disease
Objective: To evaluate effectiveness of panel testing of known Parkinson's disease (PD) related genes in clinical practice. Background: It is widely recognised that monogenic forms…Hereditary and geneological aspects of Parkinson’s disease and essential tremor in people of Uzbek nationality
Objective: To study the genealogic features of Parkinson’s disease and essential tremor in people of Uzbek nationality. Background: Parkinson's disease (PD) and essential tremor (ET)…A coding VPS13C haplotype is associated with reduced risk for Parkinson disease
Objective: To study the role of coding VPS13C variants in a large cohort of late-onset PD (LOPD) patients. Background: VPS13C is within a risk locus…High rate of mutations in complex dystonia revealed by exome sequencing
Objective: This study aimed at identifying the missing genetic causes in dystonia without diagnosis following movement disorders gene panel sequencing. Background: Dystonia aetiologies are highly…A case of Aceruloplasminemia with vertical saccadic eye movement abnormalities
Objective: We describe the phenotype, video-oculagraphic and neuroradiological findings of a case of aceruloplasminemia (AC). Background: Aceruloplasminemia presents in adulthood and is characterized by microcytic…Dystonia as a main clinical feature of AAMR with a novel GMPPA mutation:A case report
Objective: To extend the spectrum of clinical phenotype in the alacrima, achalasia and mental retardation syndrome(AAMR) by reporting a case. Background: AAMR is a newly…Novel Mutation of NUS1 Gene Presenting With Developmental And Epileptic Encephalopathy and Movement Disorders
Objective: To report the range of movement disorders associated with a NUS1 gene mutation. Background: To date, pathogenic loss-of-function de novoNUS1mutations have been described in only…Bilateral Putaminal AAV2-GDNF Delivery the Treatment of Advanced Parkinson’s Disease
Objective: To investigate the safety, tolerability, and early clinical efficacy of escalating doses of AAV2-GDNF delivered into the bilateral putamen of patients with advanced PD…Relationship between restless legs syndrome and various factors in pregnancy
Objective: The aim of this study was to examine the correlation between previous pregnancies and gestational age with the occurrence of RLS in pregnant women…Automatic quantification of micro-sleep stability in isolated REM sleep behavior disorder and Parkinson’s disease
Objective: To investigate micro-sleep stability in patients with Parkinson’s disease (PD) with REM sleep behavior disorder (PD+RBD), PD patients without RBD (PDnoRBD), patients with isolated…
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