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Friday, 18 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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Search results can also be filtered using a variety of criteria. Select one or more filters below to get started.

Assuming thomas is required, the following 14 results were found.

  1. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/articles/146

    manifestations: Brain, tendons, eyes, arteries. Spectrum of presentations: Infantile diarrhea, cataracts, tendon xanthomas, progressive neurologic impairments. Neurologic manifestations: Ataxia, dystonia, epilepsy, dementia, etc. Diagnostic delay:...

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

  2. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/component/communityquiz/quiz/cerebrotendinous-xanthomatosis-ctx?catid=18&Itemid=101

    • Type: Quiz
    • Author: Editor
    • Category: Clinical Topics

  3. Cerebrotendinous Xanthomatosishttps://cnke.org/topics/cerebrotendinous-xanthomatosis

    • Type: Tag
    • Author: Editor CNKE

  4. Thomas testhttps://cnke.org/articles/181

    Thomas test is a physical exam that assesses the flexibility of the hip flexors and the degree of hip flexion deformity. It was first described in 1875 by Welsh bonesetter Hugh Owen Thomas. Purpose: To assess hip flexor tightness or contractures...

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

  5. Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183

    Mutation) Found in Cerebrotendinous Xanthomatosis (CTX), a metabolic disorder causing parkinsonism, ataxia, and tendon xanthomas. Mitochondrial Disorders POLG (DNA Polymerase Gamma Mutation) POLG mutations cause mitochondrial diseases such as...

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

  6. Thomas testhttps://cnke.org/topics/thomas-test

    • Type: Tag
    • Author: Editor CNKE

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

    less retardation Cerebrotendinous xanthomatosis AR Abnormal accumulation of cholesterol Late childhood to adolescence Xanthomas Mental deterioration Cataracts Xanthelasma Cerebellar defects Bulbar paralysis Myoclonus Xanthomas in lungs and tendons...

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

  8. Infantile Spasms Syndromehttps://cnke.org/articles/269

    Terminology The Infantile Spasms Syndrome (ISs) belongs to the group of “early epileptic encephalopathies” (EEE), characterized by severe, drug-resistant epileptic disorders, with onset in early life, associated to persistent EEG abnormalities and...

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

  9. Biochemical investigations in Bloodhttps://cnke.org/articles/13

    Blood Biochemistry Test Indications Precautions Interpretation α-AASA Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up...

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

  10. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Investigations and Management of Rare Treatable Neurological Disorders 1. AR-GCH1 Deficiency Without Hyperphenylalaninaemia Presentation: Resembles cerebral palsy, oculogyric crises, tremulousness, bradykinesia. Key Investigations: Phenylalanine...

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

  11. Lysosomal Storage Disordershttps://cnke.org/articles/477

    Sphingolipidoses Gangliosidoses GM1 gangliosidoses GM2 gangliosidoses: Sandhoff disease Tay–Sachs disease AB variant From globoside Fabry's disease From sphingomyelin Niemann–Pick disease (SMPD1-associated, type C) Gaucher's disease From sulfatide...

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

  12. 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...

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

  13. Progressive myoclonus epilepsy https://cnke.org/articles/258

    expression of apoptosis and glial activation genes. Hum Mol Genet 10 (18):1867-71. PMID: 11555622 Cotter RL, Burke WJ, Thomas VS, Potter JF, Zheng J, Gendelman HE (1999) Insights into the neurodegenerative process of Alzheimer's disease: a role for...

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

  14. Peripheral Nerve Hyperexcitability Syndromeshttps://cnke.org/articles/234

    but has been reported in infancy, where it may present with stiffness and respiratory difficulty (McGuire et al., 1984; Thomas et al., 1994; Gonzalez et al., 2008). Linked to autoimmune disorders and neoplasms, such as: Myasthenia gravis. Thymoma....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 1 - 14 of 14