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Tuesday, 07 January 2025

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Assuming effects is required, the following 70 results were found.

  1. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum Introduction and Overview Definition: ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum Additional...

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  2. Myotonic Dystrophyhttps://cnke.org/articles/229

    Myotonic dystrophy (DM) is the most common form of myotonic myopathy, with an estimated prevalence of 1 in 7,000 people, though milder cases often go undiagnosed. Overview This multisystem disorder is inherited as an autosomal dominant trait and can...

    • Type: Article
    • Author: Editor CNKE
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  3. Beta-propeller protein-associated neurodegeneration (BPAN)https://cnke.org/articles/48

    Levodopa treatment improves clinical symptoms in 95.2% of BPAN patients with parkinsonism, though many experience side effects such as motor fluctuation and dyskinesias. Improvement in dystonia has also been reported in some cases . Conclusion BPAN...

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    • Author: Editor CNKE
    • Category: Articles

  4. Perampanel https://cnke.org/articles/292

    dose: 4 mg daily). Safety and Tolerability General Tolerance: Well tolerated with mild to moderate adverse events. Adverse Effects: Commonly CNS-related (dizziness, somnolence, fatigue, irritability). FDA boxed warning for aggression, hostility,...

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  5. Investigations in Movement Disordershttps://cnke.org/articles/354

    AJ, Hughes EG, Rossi JE, Peng X, Lai M et al. (2008) Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies.Lancet Neurol 7 (12):1091-8. DOI:10.1016/S1474-4422(08)70224-2 PMID: 18851928. Canavese C, Ciano C, Zorzi G,...

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  6. Neural tube developmenthttps://cnke.org/articles/356

    Diagram showing the definition of the fundamental territories of the anterior neural tube by complex and dynamic effects of suppressor and permissive gene products. Note position of the isthmic organiser (IsO) at the mesencephalic-rhombencephalic...

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  7. Ataxia Telangiectasia (AT)https://cnke.org/articles/151

    stress and improves DNA repair. Erythrocyte-Encapsulated Dexamethasone: Provides temporary improvement without steroid side effects. Triheptanoin: Corrects mitochondrial dysfunction. Prognosis and Future Directions Median Survival: ~25 years. Primary...

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  8. Facioscapulohumeral muscular dystrophy https://cnke.org/articles/226

    repeat contraction (1–10 repeat units) on chromosome 4q35. Associated with the DUX4 gene, leading to toxic gain-of-function effects. FSHD2: Rare, linked to mutations in SMCHD1. Both FSHD1 and FSHD2 impact DUX4 expression. Inheritance: FSHD1: Mostly...

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    • Author: Editor CNKE
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  9. Alexander Diseasehttps://cnke.org/articles/253

    at risk for adult-onset conditions without available early treatment. Concerns include: Loss of autonomy. Potential adverse effects on family dynamics, discrimination, and stigmatization. Anxiety caused by the test results. Family Planning Before...

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    • Author: Editor CNKE
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  10. Terms and Conditionshttps://cnke.org/about/172

    Welcome to CNKE.org ("Website"), a platform developed to enhance knowledge and collaboration in child neurology. By accessing or using the Website and its content (collectively, "Licensed Content"), you agree to abide by the terms and conditions set...

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