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…Preservation of Putamen Volume with Aging in Cervical Dystonia, not other focal dystonia subtypes: A Cross-Sectional Neuroimaging Study
Objective: To investigate whether focal dystonia is associated with altered structural age-related changes in the putamen compared to healthy controls and across dystonia subtypes. Background:…Diverse clinical phenotypes of ATP1A3 mutations-A case series of four patients
Objective: To study the clinical phenotype of all patients with ATP 1A3 mutation in the genetic study Background: ATP1A3 is associated with a broad spectrum…Blepharospasm as cause of facial pain and “sinus” headache: A case series
Objective: Describe the clinical spectrum of blepharospasm Background: Blepharospasm is characterized by stereotyped, bilateral and synchronous spasms of the orbicularis oculi muscles Method: Case report…The Dutch Yips Study- part V: The VIdeo Panel (VIP)-Study
Objective: At least 10 international in Movement Disorders specialised neurologists participate in a research study that aims to better understand the origins and the phenomenology of…Waveform based analysis of cervical dystonia with tremor and essential tremor using a marker-less tracking algorithm with 2D-video: evaluation of sinusoidality and rhythmicity
Objective: This study aims to introduce a novel video-based waveform analysis to objectively measure two fundamental tremor characteristics—rhythmicity and sinusoidality. Background: Tremor is defined as…Rapid Onset Progressive Dystonia with Parkinsonism
Objective: To illustrate a case of a patient presenting with oromandibular dystonia with blepharospasm (Meige syndrome) and progressing to a segmental dystonia with parkinsonism. This…Wearable Sensor-Based Assessment of Lower Extremity Dystonia in X-linked Dystonia Parkinsonism
Objective: To develop a sensor-based pipeline to identify lower limb dystonic features in X-linked dystonia parkinsonism (XDP). Background: XDP is a rare neurogenetic combined movement…Insights into Myoclonus Dystonia from an Indian movement disorder clinic
Objective: To describe the clinical profile, etiology and treatment profile of myoclonus dystonia patients attending a single movement disorder clinic. Background: Myoclonus-dystonia (MD) is a…Phenotypic spectrum and response to deep brain stimulation (DBS) in patients with dystonia due to variants in the KMT2B gene: A description of six Chilean cases
Objective: This study aims to characterize the phenotypic spectrum and therapeutic responses to Deep Brain Stimulation (DBS) in Chilean patients diagnosed with dystonia due to…
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