The Syndrome of Irreversible Lithium-Effectuated Neurotoxicity: A Scoping Review. [PDF]
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A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report. [PDF]
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Paroxysmal kinesigenic choreoathetosis. [PDF]
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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family. [PDF]
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A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature. [PDF]
Orphanet J Rare DisJiang T, Ouyang W, Yang H, Li S.
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Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders. [PDF]
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Protocol for combined N-of-1 trials to assess cerebellar neurostimulation for movement disorders in children and young adults with dyskinetic cerebral palsy. [PDF]
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Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing. [PDF]
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A Case of Hyperglycemia-Induced Epileptic Homonymous Hemianopsia. [PDF]
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Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment. [PDF]
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