Reactive Glia Inflammatory Signaling Pathways and Epilepsy

por Sanz, Pascual, Garcia-Gimeno, Maria Adelaida
Publicado 2020

Lafora Disease: A Ubiquitination-Related Pathology

por García-Gimeno, Maria Adelaida, Knecht, Erwin, Sanz, Pascual
Publicado 2018

Structure-Function Analysis of PPP1R3D, a Protein Phosphatase 1 Targeting Subunit, Reveals a Binding Motif for 14-3-3 Proteins which Regulates its Glycogenic Properties

por Rubio-Villena, Carla, Sanz, Pascual, Garcia-Gimeno, Maria Adelaida
Publicado 2015

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

por Kumarasinghe, Lorena, Xiong, Lu, Garcia-Gimeno, Maria Adelaida, Lazzari, Elisa, Sanz, Pascual, Meroni, Germana
Publicado 2021

Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model

por Moreno-Estellés, Mireia, Campos-Rodríguez, Ángela, Rubio-Villena, Carla, Kumarasinghe, Lorena, Garcia-Gimeno, Maria Adelaida, Sanz, Pascual
Publicado 2023

Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease

por Sanchis, Ana, García-Gimeno, María Adelaida, Cañada-Martínez, Antonio José, Sequedo, María Dolores, Millán, José María, Sanz, Pascual, Vázquez-Manrique, Rafael P.
Publicado 2019

Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY)

por Cuesta-Muñoz, Antonio L., Tuomi, Tiinamaija, Cobo-Vuilleumier, Nadia, Koskela, Hanna, Odili, Stella, Stride, Amanda, Buettger, Carol, Otonkoski, Timo, Froguel, Philippe, Grimsby, Joseph, Garcia-Gimeno, Maria, Matschinsky, Franz M.
Publicado 2010

Studying Closed Hydrodynamic Models of “In Vivo” DNA Perfusion in Pig Liver for Gene Therapy Translation to Humans

por Sendra, Luis, Miguel, Antonio, Pérez-Enguix, Daniel, Herrero, María José, Montalvá, Eva, García-Gimeno, María Adelaida, Noguera, Inmaculada, Díaz, Ana, Pérez, Judith, Sanz, Pascual, López-Andújar, Rafael, Martí-Bonmatí, Luis, Aliño, Salvador F.
Publicado 2016

Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration

por Espinós, Carmen, Galindo, Máximo Ibo, García-Gimeno, María Adelaida, Ibáñez-Cabellos, José Santiago, Martínez-Rubio, Dolores, Millán, José María, Rodrigo, Regina, Sanz, Pascual, Seco-Cervera, Marta, Sevilla, Teresa, Tapia, Andrea, Pallardó, Federico V.
Publicado 2020

An empirical pipeline for personalized diagnosis of Lafora disease mutations

por Brewer, M. Kathryn, Machio-Castello, Maria, Viana, Rosa, Wayne, Jeremiah L., Kuchtová, Andrea, Simmons, Zoe R., Sternbach, Sarah, Li, Sheng, García-Gimeno, Maria Adelaida, Serratosa, Jose M., Sanz, Pascual, Vander Kooi, Craig W., Gentry, Matthew S.
Publicado 2021