most citedMotor neuron pathology in CANVAS due to RFC1 expansions

84 citations

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Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.

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1 paper

q-bio.NC2022★ 84 cited

Motor neuron pathology in CANVAS due to RFC1 expansions

Vincent Huin, Giulia Coarelli, Clément Guemy +22

CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical…