Homozygous BZRAP1 mutations cause autosomal recessive dystonia
Objective: To report the identification of bi-allelic mutations in BZRAP1, encoding the active zone (AZ) protein RIM-binding protein 1 (RBP1), as a novel cause of…HGprt deficient brain RNA expression patterns reveal specific abnormalities related to neuronal function in a mouse model of Lesch-Nyhan disease.
Objective: To determine the effect of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on mouse brain RNA expression patterns in multiple brain areas, during embryonic development…HGprt deficiency affects early brain development in vivo in a mouse model of Lesch-Nyhan disease
Objective: To determine the effects of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on early brain development in vivo, in a HPRT1-deficient mouse model. Background: Lesch-Nyhan…Cerebral cavernous malformations and movement disorders
Objective: To present the unusual occurrence of movement disorders (MD) secondary to cerebral cavernous malformations (CCM). Background: CCM most frequently become manifest by seizures, focal…Transcranial neuromodulation of the Frontal Eye Fields: targeting Temporal Discrimination Thresholds (TDT) in Adult Onset Primary Torsion Dystonia (AOPTD)
Objective: We aim to further characterise the sensory processing abnormalities previously observed in AOPTD using a novel transcranial Direct Current Stimulation (tDCS) protocol. Background: AOPTD,…Altered sensory processing in somatosensory and auditory domains in laryngeal dystonia
Objective: To delineate correlates of altered sensory processing in laryngeal dystonia (LD) in both presence and absence of somatosensory input and their modulation by botulinum…Interactions within Fine Motor Control Network in Task-specific Dystonia
Objective: Using a novel methodology combining neuroimaging and transcranial magnetic stimulation(TMS), we explored the difference in the interactions between the principal nodes of the fine…Post stroke dystonia and dystonic tremor: Clinical features and neuroimaging findings
Objective: To study the clinical features and neuroimaging findings of patients with post stroke dystonia and dystonic tremor. Background: Post stroke dystonia is a known…A protocol to probe the mechanisms underlying disordered sub-cortical processing in cervical dystonia using emotional faces.
Objective: Probing the mechanisms underlying disordered sub-cortical processing in the pathogenesis of the non-motor symptoms of cervical dystonia (CD) is of great clinical importance. We…Rapidly progressive cognitive decline and hemi-dystonia due to anti-neuronal surface antibodies
Objective: To describe a case of marked asymmetric coarse tremor and dystonia in patient diagnosed with anti-NMDAR encephalitis. Background: Anti-NMDAR encephalitis has complex and heterogeneous…
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