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Article

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

2 Mar 2015

Abstract excerpt

The discovery that a hexanucleotide repeat expansion in C9orf72 is the most numerous genetic variant of both amyotrophic lateral sclerosis and frontotemporal dementia has opened a rapidly growing field, which may provide long hoped for advances in the understanding and treatment of these devastating diseases. In this review we describe the various phenotypes, clinical and pathological, associated with expansion...

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PMID: 25731823
DOI: 10.1007/s13311-015-0342-1

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