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C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies

10 Jun 2022

Abstract excerpt

Hexanucleotide expansion in C9orf72 has been related to several phenotypes to date, complicating the clinical recognition of these neurodegenerative disorders. An early diagnosis can improve the management of patients, promoting early administration of therapeutic supportive strategies. Here, we report known clinical presentations of C9orf72-related neurodegenerative disorders, pointing out suggestive phenotypes...

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PMID: 35754952
DOI: 10.3389/fnagi.2022.907122

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