GNAO1 gene mutation: generalized dystonia without epilepsy.
Objective: GNAO1 gene mutation is considered in the differential diagnosis of early onset epileptic encephalopathies (EOEE) with movement disorders. De novo GNAO1 mutations were first…Interleaving stimulation mode can improve better the health-related quality of life in primary generalized or segmental dystonia than standard bilateral pallidal deep brain stimulation
Objective: To compare the efficacy of standard and interleaving stimulation modes in the bilateral pallidal stimulation treatment of generalized and segmental primary dystonia. Background: For…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…A software framework for objective and quantitative audio-analysis of Embouchure Dystonia (ED)
Objective: Development of an automated audio-analysis software framework for aiding in biomarker identification to objectively quantify ED severity. Background: ED, the second most common phenotype…Classification of idiopathic cervical dystonia: an observational study
Objective: The aim of our study was to classify patients with idiopathic cervical dystonia who had never been injected botulinum toxin. Background: Idiopathic cervical dystonia…Associated movements disorders to Hereditary Spastic Paraplegia (HSP) in a case series from South Spain
Objective: Describe different movement disorders associated with HSP in a series from the south Spain. Background: HSP englobe a heterogeneous group of diseases. Different movement…Influence of the spinal manipulation on muscle spasticity: a randomized controlled trial
Objective: To assess how spinal manipulation influences muscle tone of the limbs Background: Muscle spasticity is an important clinical syndrome of many diseases, namely Parkinsons, post-stroke,…Pupillary response to light and tasks in early and late onset essential tremor patients
Objective: Testing the hypothesis that late onset essential tremor (LOET) patients show age-typical differences of the pupillary responses when compared with early onset ET (EOET)…Oculopalatal tremor (OPT) in a patient with anti-GAD brainstem encephalitis: A case report
Objective: To report a case of OPT as consequence of anti-GAD brainstem encephalitis Background: OPT is caused by insult to the Guillain-Mollaret triangle. Common etiologies…Dentate nucleus functional connectivity changes and their relationship with motor and non motor symptoms in patients with essential tremor
Objective: To evaluate Dentate Nucleus (DN) functional connectivity (FC) changes and their relationship with motor and non-motor symptoms in essential tremor (ET). Background: Previous functional…
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