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…Dyadic analysis of the Parkinson’s disease impact on the patient-spouse couple
Objective: The present research aims to understand the dyadic functioning of couples faced with Parkinson’s disease (PD) considering disease progression. Background: PD has detrimental effects…Considerations before initiating therapy in Parkinsonism: basing on the health-related quality of life.
Objective: We aimed to compare the determinants of life quality between drug naïve PD and MSA-P patients. Background: To improve the quality of life (QoL)…Impact of cathine and carthinone use among Parkinson’s disease Patients
Objective: Evaluate cathine and cathinone’s effect on alertness, energy, sleep pattern, and tremor among Parkinson’s disease patient. Background: Khat, a plant that contains amphetamine like…
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