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Monday, 06 January 2025

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Editor

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Search results can also be filtered using a variety of criteria. Select one or more filters below to get started.

Assuming ataxia is required, the following 46 results were found.

  1. Mucolipidoses and Oligosaccharidoseshttps://cnke.org/articles/469

    Gene: NEU1 Encoded Protein: α-neuraminidase Features: Progressive myoclonus, cherry-red spots, coarse facial features, ataxia. Mucolipidosis II/III (I-Cell Disease): Gene: GNPTAB, GNPTG Encoded Protein: UDP-N-acetylglucosamine-1-phosphotransferase...

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

  2. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    or partial recovery. Neurological Features: Hand stereotypies (e.g., wringing, mouthing). Gait abnormalities (e.g., ataxia, dyspraxia). Seizures: High prevalence but variable severity. Behavioral Features: Initial autism-like behaviors, followed by...

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

  3. The Journey of Discovery: Unraveling Fragile X Syndromehttps://cnke.org/historical-vignettes/the-journey-of-discovery-unraveling-fragile-x-syndrome

    (premutations) were found to be at risk for Fragile X-associated conditions, including Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) in older adults and Fragile X-associated Primary Ovarian Insufficiency (FXPOI) in women. Advances in Screening and...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  4. Neurometabolic Disordershttps://cnke.org/articles/knowledge-maps/209

    acidosis, and stroke-like episodes) Leigh syndrome MERRF (Myoclonic epilepsy with ragged red fibers) NARP (Neuropathy, ataxia, and retinitis pigmentosa) Kearns-Sayre syndrome Coenzyme Q10 deficiency Pyruvate dehydrogenase complex deficiency Krebs cycle...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles (open)

  5. Muscle Conditions with Myotonia or Myotonia-like Symptomshttps://cnke.org/articles/knowledge-maps/230

    Disease (GSD II, Pompe Disease) Other Conditions: Rippling Muscle Disease Hypothyroidism Schwartz-Jampel Syndrome Episodic Ataxia Type 1 Symptoms Mimicking Myotonia (No Clinical or Electrical Evidence of Myotonia) Conditions with symptoms resembling...

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

  6. Bromideshttps://cnke.org/articles/bromides

    steady state reached after 7–8 weeks. Side Effects and Toxicity Chronic Toxicity (“Bromism”): CNS-related: Lethargy, ataxia, depression, tremor, psychosis, confusion, and seizures. Dermatological: Acneiform dermatitis (bromoderma), aphthous stomatitis,...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 41 - 46 of 46