Silvia Amor-Barris

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 4

Top Topics

Top Venues

Orphanet journal of rare diseases

Molecular genetics & genomic medicine

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Camila Armirola-Ricaurte, Laura Morant, Isabelle Adant, Sherifa Ahmed Hamed, Menelaos Pipis, Stephanie Efthymiou, Silvia Amor-Barris, Derek Atkinson, Liedewei Van de Vondel, Aleksandra Tomic, Els de Vriendt, Stephan Zuchner, Bart Ghesquiere, Michael Hanna, Henry Houlden, Michael P T Lunn, Mary M Reilly, Vedrana Milic Rasic, Albena Jordanova
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. medRxiv : the preprint server for health sciences (2024)
Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, Ramune Vilimiene, Camila Armirola-Ricaurte, Kristina Grigalioniene, Alexandra Ekshteyn, Ausra Morkuniene, Arunas Vaitkevicius, Els De Vriendt, Jonathan Baets, Steven S Scherer, Laima Ambrozaityte, Algirdas Utkus, Albena Jordanova, Kristien Peeters
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Orphanet journal of rare diseases 17 (1) (2022)
Bianca de Aguiar Coelho Silva Madeiro, Kristien Peeters, Elker Lene Santos de Lima, Silvia Amor-Barris, Els De Vriendt, Albena Jordanova, Maria Tereza Cartaxo Muniz, Carolina da Cunha Correia
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report. Molecular genetics & genomic medicine 9 (10) (2021)
Silvia Amor-Barris, Helle Høyer, Lin V Brauteset, Els De Vriendt, Linda Strand, Albena Jordanova, Geir J Braathen, Kristien Peeters
HINT1 neuropathy in Norway: clinical, genetic and functional profiling. Orphanet journal of rare diseases 16 (1) (2021)