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Saturday, 04 January 2025

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Editor

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Entering this and that into the search form will return results containing both "this" and "that".

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Assuming huntington's is required, and disease is required, the following 4 results were found.

  1. Repeat Expansionshttps://cnke.org/articles/187

    Introduction to Repeat Expansions Definition: Repeat expansions refer to the abnormal increase in the number of tandem nucleotide repeats in specific regions of the genome. Examples: CAG, CGG, CTG, GAA repeats. Significance: These expansions can...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  2. CNS Degenerative Disorders of Childhoodhttps://cnke.org/articles/315

    Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Motor System Seizures Laboratory and Tissue Studies Course Adrenoleukodystrophy and variants (peroxisomal disease) X-linked Xq28 Neonatal form: AR Acyl-CoA synthetase 5–10...

    • Type: Article
    • Author: Editor
    • Category: Home

  3. Hereditary ataxias due to repeat expansionshttps://cnke.org/articles/186

    Hereditary ataxias are caused by repeat expansions in specific genes. Testing for repeat expansions is recommended before Next-Generation Sequencing (NGS) analysis. Key clinical features often include cerebellar ataxia and other systemic...

    • Type: Article
    • Author: Editor CNKE
    • Category: Home

  4. ADCY5 Dyskinesiahttps://cnke.org/articles/213

    ADCY5 dyskinesia is a hyperkinetic movement disorder characterized by infantile to late-adolescent onset of chorea, athetosis, dystonia, myoclonus, or a combination of these. Overview Hyperkinetic movement disorder, more prominent in the face and arms...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
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