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

APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal‐dominant Alzheimer's disease

por Almkvist, Ove, Johansson, Charlotte, Laffita‐Mesa, Jose, Thordardottir, Steinunn, Graff, Caroline
Publicado 2022

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

por Paucar, Martin, Bergendal, Åsa, Gustavsson, Peter, Nordenskjöld, Magnus, Laffita-Mesa, José, Savitcheva, Irina, Svenningsson, Per
Publicado 2018

TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers

por Khoshnood, Behzad, Ullgren, Abbe, Laffita-Mesa, Jose, Öijerstedt, Linn, Patra, Kalicharan, Nennesmo, Inger, Graff, Caroline
Publicado 2021

Plasma biomarker profiles in autosomal dominant Alzheimer’s disease

por Johansson, Charlotte, Thordardottir, Steinunn, Laffita-Mesa, José, Rodriguez-Vieitez, Elena, Zetterberg, Henrik, Blennow, Kaj, Graff, Caroline
Publicado 2023

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

Plasma metabolomics of presymptomatic PSEN1‐H163Y mutation carriers: a pilot study

por Natarajan, Karthick, Ullgren, Abbe, Khoshnood, Behzad, Johansson, Charlotte, Laffita‐Mesa, José M., Pannee, Josef, Zetterberg, Henrik, Blennow, Kaj, 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

Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease

por González-Zaldívar, Yanetza, Vázquez-Mojena, Yaimeé, Laffita-Mesa, José M, Almaguer-Mederos, Luis E, Rodríguez-Labrada, Roberto, Sánchez-Cruz, Gilberto, Aguilera-Rodríguez, Raúl, Cruz-Mariño, Tania, Canales-Ochoa, Nalia, MacLeod, Patrick, Velázquez-Pérez, Luis
Publicado 2015

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