Elisa Vegezzi
Fondazione Istituto Neurologico Nazionale Casimiro Mondino
42 papers found
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
UploadAnti-pan-neurofascin nodopathy: cause of fulminant neuropathy
UploadSerum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
UploadOptical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
Download from doi.orgA CCG expansion inABCD3causes oculopharyngodistal myopathy in individuals of European ancestry
UploadVisual System Involvement in Glial Fibrillary Acidic Protein Astrocytopathy
Download from doi.orgUnclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy
UploadEffect of monovalency on anti-contactin-1 IgG4
Download from doi.orgTruncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
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