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Updated: Jan 7, 2026

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
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Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration

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渐进的小脑缺血症与广泛的外围电脉切开症在缺血症-电脉切开症中

Gizem O Ozturk1, Yagiz A Aksoy2,3

  • 1Department of Dermatology, TC Saglik Bakanligi Izmir Sehir Hastanesi, Izmir, İzmir, Turkey.

BMJ case reports
|December 30, 2025
PubMed
概括

过敏性脑膜炎 (AT) 是一种罕见的神经退行性疾病. 这个案例突出了古典的AT症状与不寻常的皮肤发现,强调了管理和遗传咨询的早期诊断.

关键词:
皮肤病学 皮肤病学神经遗传学 神经遗传学

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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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