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Monday, 07 April 2025

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Editor

Here are a few examples of how you can use the search feature:

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 6 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. Acquired Dysarthriahttps://cnke.org/articles/247

    Dysarthria is a speech articulation impairment affecting intelligibility, particularly through consonant production. It can also disrupt phonation, resonation, and prosody, leading to slurred, effortful speech. Dysarthria is often associated with...

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

  3. Mitochondrial Disordershttps://cnke.org/articles/knowledge-maps/259

    Mitochondrial disorders are caused by mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that affect mitochondrial function. These conditions involve impaired energy production due to defects in the mitochondrial respiratory chain (oxidative...

    • Type: Article
    • Author: Editor CNKE
    • Category: Knowledge Maps

  4. 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 CNKE
    • Category: Articles

  5. 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: Articles

  6. 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
Results 1 - 6 of 6