HINT1 neuropathy in Norway: clinical, genetic and functional profiling

por Amor-Barris, Silvia, Høyer, Helle, Brauteset, Lin V., De Vriendt, Els, Strand, Linda, Jordanova, Albena, Braathen, Geir J., Peeters, Kristien
Publicado 2021

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

por de Aguiar Coelho Silva Madeiro, Bianca, Peeters, Kristien, Santos de Lima, Elker Lene, Amor‐Barris, Silvia, De Vriendt, Els, Jordanova, Albena, Cartaxo Muniz, Maria Tereza, da Cunha Correia, Carolina
Publicado 2021

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling

por Malcorps, Matilde, Amor-Barris, Silvia, Burnyte, Birute, Vilimiene, Ramune, Armirola-Ricaurte, Camila, Grigalioniene, Kristina, Ekshteyn, Alexandra, Morkuniene, Ausra, Vaitkevicius, Arunas, De Vriendt, Els, Baets, Jonathan, Scherer, Steven S., Ambrozaityte, Laima, Utkus, Algirdas, Jordanova, Albena, Peeters, Kristien
Publicado 2022