Assuming ataxia is required, and telangiectasia is required, the following 7 results were found.
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Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183
Diseases Associated with Chorea Ataxia-Telangiectasia and Related Conditions ATX–ATM (Ataxia-Telangiectasia Mutated gene) A progressive condition involving cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased risk of malignancies....
- Type: Article
- Author: Editor
- Category: Home
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Ataxia Telangiectasia (AT)https://cnke.org/articles/151
Introduction Definition: Ataxia Telangiectasia (AT) is a rare neurocutaneous disorder caused by biallelic pathogenic variants in the ATM gene. Core Manifestations: Cerebellar ataxia in early toddler years. Oculocutaneous telangiectasias in school-aged...
- Type: Article
- Author: Editor
- Category: Home
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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: Home
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- Type: Quiz
- Author: Editor
- Category: Clinical Topics
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Ataxia Telangiectasiahttps://cnke.org/topics/ataxia-telangiectasia
- Type: Tag
- Author: Editor
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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
- Category: Home
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cherry-red-spothttps://cnke.org/?view=article&id=118:350&catid=15
The Cherry Red Spot refers to the appearance of a red-tinted region at the center of the macula surrounded by retinal opacification, usually present due to the thickening and loss of transparency of the posterior pole of the retina. The differential...
- Type: Article
- Author: Editor
- Category: Image of the Week