Facchini, Stefano

Facchini, Stefano  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis 2024 Facchini, StefanoCortese, Andrea + Article (author) -
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry 2024 Cortese, AndreaFacchini, StefanoCorti, Stefania P. + Article (author) -
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum 2024 Facchini S.Pichiecchio A.Cosentino G.Cortese A. + Article (author) -
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis 2023 Facchini, StefanoCortese, Andrea + Article (author) -
RFC1 expansions are a common cause of idiopathic sensory neuropathy 2021 Pichiecchio, AnnaCosentino, GiuseppeFacchini, StefanoCortese, Andrea + Article (author) -