An unusual cause of fatal rapid-onset ataxia plus syndrome

por Kmezic, Ivan, Weinberg, Jan, Hauzenberger, Dan, Hashim, Farouk, Kollia, Evangelia, Klimkowska, Monika, Nennesmo, Inger, Paucar, Martin
Publicado 2017

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations

por Paucar, Martin, Ågren, Richard, Li, Tianyi, Lissmats, Simon, Bergendal, Åsa, Weinberg, Jan, Nilsson, Daniel, Savichetva, Irina, Sahlholm, Kristoffer, Nilsson, Johanna, Svenningsson, Per
Publicado 2021

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

por Niemelä, Valter, Salih, Ammar, Solea, Daniela, Lindvall, Björn, Weinberg, Jan, Miltenberger, Gabriel, Granberg, Tobias, Tzovla, Aikaterini, Nordin, Love, Danfors, Torsten, Savitcheva, Irina, Dahl, Niklas, Paucar, Martin
Publicado 2020