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Early Diagnosis and Targeted Therapy in SLC39A8-Congenital Disorder of Glycosylation: A Case Report From Bulgaria. [PDF]
CureusVarbanova V +5 more
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Focal dystonia attributed to secondary Nigrostriatal pathway disruption following brainstem Hemorrhage: a case report. [PDF]
Oxf Med Case ReportsZhou L, Zhao C, Sun Z, Man X, Xiang Y.
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The Hypothalamus in Dystonic Movement Disorders
International Journal of Neuroscience, 1988The term dystonia was introduced by Oppenheim and Vogt in 1911 to describe the relatively slow, sustained, frequently forceful contorting movements involving striatal muscles. Dystonia is characteristically seen in childhood ("primary dystonia"), but also occurs in a variety of other disorders of the CNS ("secondary dystonia"). In the case of childhood
R, Sandyk, C R, Bamford
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ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy
Neuropediatrics, 2022Abstract ASXL3 loss-of-function variants represent a well-established cause of Bainbridge–Ropers syndrome, a syndromic neurodevelopmental disorder with intellectual and motor disabilities. Although a recent large-scale genomics-based study has suggested an association between ASXL3 variation and cerebral palsy, there have been no detailed ...
Švantnerová, J. +5 more
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Open label evaluation of cannabidiol in dystonic movement disorders
International Journal of Neuroscience, 1986Cannabidiol (CBD), a nonpsychoactive cannabinoid of Cannabis, was given to 5 patients with dystonic movement disorders in a preliminary open pilot study. Oral doses of CBD rising from 100 to 600 mg/day over a 6 week period were administered along with standard medication. Dose-related improvement in dystonia was observed in all patients and ranged from
P, Consroe, R, Sandyk, S R, Snider
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Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders
Parkinsonism & Related Disorders, 2023Cerebral palsy (CP) is a group of permanent disorders attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. Cerebral palsy-like (CP-like) disorders may clinically resemble CP but do not fulfill CP criteria and have often a progressive course and/or neurodevelopmental regression.
P. Pavelekova +11 more
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