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Updated: May 1, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

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探索ALS中ANXA11变体的表型指纹:在欧洲队列中的基于人口的研究

Francesca Palumbo1, Barbara Iazzolino1, Cristina Moglia1,2

  • 1ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Torino, Via Cherasco 15, 10126, Turin, Italy.

Journal of neurology
|July 21, 2025
PubMed
概括

附件A11 (ANXA11) 中的致病变体在肌缩侧面硬化症 (ALS) 中很常见,并且与认知障碍有很强的联系. 对ANXA11的遗传查可能会改善ALS的诊断和治疗.

关键词:
附录A11 附录A11 附录A11 附录A11 附录A11 附录A11肌缩性侧面硬化症 (AMLS) 是一种疾病.认知 认知是一种认知.现象型 现象型 是一种表现型.

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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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