Ataxin-2 gene: a powerful modulator of neurological disorders

por Laffita-Mesa, Jose Miguel, Paucar, Martin, Svenningsson, Per
Publicado 2021

Are ATXN2 variants modifying our understanding about neural pathogenesis, phenotypes, and diagnostic?

por Laffita-Mesa, Jose Miguel, Paucar, Martin, Svenningsson, Per
Publicado 2022

A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS

por Laffita‐Mesa, Jose Miguel, Nennesmo, Inger, Paucar, Martin, Svenningsson, Per
Publicado 2020

Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia

por Natarajan, Karthick, Eisfeldt, Jesper, Hammond, Maria, Laffita-Mesa, José Miguel, Patra, Kalicharan, Khoshnood, Behzad, Öijerstedt, Linn, Graff, Caroline
Publicado 2021

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

por Paucar, Martin, Pajak, Aleksandra, Freyer, Christoph, Bergendal, Åsa, Döry, Margit, Laffita-Mesa, José Miguel, Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Savitcheva, Irina, Walker, Ruth H., Wedell, Anna, Wredenberg, Anna, Svenningsson, Per
Publicado 2018

De Novo Mutations in Ataxin-2 Gene and ALS Risk

por Laffita-Mesa, José Miguel, Rodríguez Pupo, Jorge Michel, Moreno Sera, Raciel, Vázquez Mojena, Yaimee, Kourí, Vivian, Laguna-Salvia, Leonides, Martínez-Godales, Michael, Valdevila Figueira, José A., Bauer, Peter O., Rodríguez-Labrada, Roberto, Zaldívar, Yanetza González, Paucar, Martin, Svenningsson, Per, Pérez, Luís Velázquez
Publicado 2013