List of works by Emanuela Abiusi

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis

scientific article

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

scientific article published on 17 October 2012

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy.

scientific article published on 10 October 2017

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

scientific article

Longitudinal assessments in discordant twins with SMA.

scientific article published on 8 July 2017

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

scientific article published on 3 April 2015

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