Clinical and Genetic Profile of DYT-THAP1 in Asian Indian Patients
Objective: To describe the clinical and genetic profile of DYT-THAP1 in Asian Indian patients. Background: Variants in the thanatos-associated protein 1 (THAP1) gene are recognized…The Frontalis Behavioral Trick in Blepharospasm
Objective: To describe clinical features of the frontalis behavioral trick in blepharospasm. Background: Blepharospasm is a form of dystonia that is characterized by stereotyped, bilateral…The Effect of Body Position on Cortical and Peripheral Neurophysiology of Adductor-type Laryngeal Dystonia: A Pilot Study
Objective: To compare the effect of body position on CNS and PNS function and associated adductor-type laryngeal dystonia (AdLD) voice symptomatology. Background: Body position impacts…AI-Based Detection of Tremor and Dystonia Using Deep Learning Models: A Novel Approach
Objective: Primary Objective:To develop and evaluate a machine learning-based model for the accurate classification of tremor and dystonia using video data.Secondary Objectives:To address the shortage…Biallelic Variants in ACER3 Encoding Alkaline Ceramidase 3 Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Progressive Leukodystrophy
Objective: To delineate the clinical phenotype and molecular spectrum of alkaline ceramidase 3 -related disease (ACER3-RD) by characterizing 60 patients from 55 independent families. Background:…National Survey of DYT/PARK-GCH1 (Segawa Disease) in Japan
Objective: To clarify clinical features of Segawa Disease (SD) in Japan. Background: Prof Segawa discovered SD 50 years ago, and GCH-1 gene mutations were linked…Central Neuromodulatory Effects of Sodium Oxybate in Laryngeal Dystonia: A Pharmacological fMRI Study
Objective: To examine the central effects of sodium oxybate in patients with alcohol-responsive (EtOH+) laryngeal dystonia (LD). Background: LD is a task-specific form of isolated…Dopamine Responsive ATP1A3 Dystonia Parkinsonism A Case Report
Objective: We present a rare familial case of a patient with ATP1A3 dystonia parkinsonism, which improved with levodopa. Background: Rapid onset dystonia parkinsonism can be…Kinematic Assessment of Balance in Cervical Dystonia
Objective: To investigate the kinematic basis of balance impairment in Cervical Dystonia (CD) and the response to different treatment modalities. Background: Several studies have demonstrated…Japanese family of dystonia related to GNAO1 pathogenic variant and systematic literature review
Objective: To present a young adolescent female with functional dystonia phenotype progressed to status dystonia/anarthria and mental confusion, even more molecular genetic of family members…
- 1
- 2
- 3
- …
- 48
- Next Page »