Opinions and clinical practices related to diagnosing and managing patients with functional (psychogenic) movement disorders: from 2009 to 2019
Objective: (1) To examine current opinion and clinical practices related to diagnosis and management of Functional Movement Disorders (FMD); and (2) to determine if practice…MYORG is associated with recessive primary familial brain calcification
Objective: To investigate the genetic basis of the recessive form of primary familial brain calcification (PFBG) and study pathways linking a novel gene with known…Comparison of Gene Expression in Parkinson’s Disease and Bipolar Disorder
Objective: The aim of this research is to compare the overexpressed genes in patients with Parkinson's Disease (PD) and patients with Bipolar Disorder (BD) versus…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…
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