MOVEMENT DISORDERS FEATURES ASSOCIATED WITH WEST SYNDROME
Objective: To describe the clinical, therapeutic and outcome features of movement disorders (MD) observed in children with West Syndrome (WS) at the Neurology Department of…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…Social Cognition and Habituation in Cervical Dystonia
Objective: To assess social cognition in people with cervical dystonia (CD). Background: Anxiety and depression are common and disabling comorbidities in CD. Difficulties in processing…Clinical profile and treatment response patterns in patients of Truncal Dystonia: A retrospective case series from a tertiary care hospital in India
Objective: To identify the clinical profile and treatment response patterns in patients with truncal dystonia. Background: Truncal Dystonia is characterized by involuntary contractions and postures…Non-motor symptoms in Myoclonus-Dystonia: a comparison to other dystonia subtypes
Objective: Systematically study NMS in M-D in direct comparison to other types of dystonia and healthy controls. Background: Myoclonus-dystonia (M-D) due to a SGCE mutation…The Clinical, Molecular and Radiographic Spectrum of Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): Results from the AP-4-HSP International Registry
Objective: 1) To develop a registry and natural history study for AP-4-HSP; 2) to define core clinical and radiographic features; 3) to explore genotype-phenotype correlations.…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…Structural network fingerprints for GPI-DBS in dystonia
Objective: Here, we investigate whether patients who respond to GPi-DBS present different brain global and local network organization and structural MRI fingerprints as derived from…Neuromuscular electrical stimulation for the treatment of jaw-closing dystonia
Objective: To measure whether neuromuscular electrical stimulation (NMES) increases jaw-opening distance and improves quality-of-life in jaw-closing dystonia patients. Background: An index case with progressive supranuclear…The Dutch Yips Study
Objective: To investigate the prevalence of the Yips in a well-defined group of golfers and to determine potential risk factors. Background: The Yips is a…
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