Search Results - "Fernández, Sara Gutiérrez"

Aβ profiles generated by Alzheimer’s disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset by Petit, Dieter, Fernández, Sara Gutiérrez, Zoltowska, Katarzyna Marta, Enzlein, Thomas, Ryan, Natalie S., O’Connor, Antoinette, Szaruga, Maria, Hill, Elizabeth, Vandenberghe, Rik, Fox, Nick C., Chávez-Gutiérrez, Lucía

“…Familial Alzheimer’s disease (FAD), caused by mutations in Presenilin (PSEN1/2) and Amyloid Precursor Protein (APP ) genes, is associated with an early age at…”
Get full text

Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation by Robbie, Leah, Fernández, Sara Gutiérrez, Montoya, Lucy, Sagare, Abhay, Barrera, Lilibeth, Sheikh-Bahaei, Nasim, Gutierrez, Lucia Chavez, Ringman, John M

“…We describe a novel I180F mutation in PSEN1 in which biomarker-supported Alzheimer's disease (AD) segregated in two affected family members. The affected amino…”
Get full text

Characterization of spastic paraplegia in a family with a novel PSEN1 mutation by Ringman, John M, Dorrani, Naghmeh, Fernández, Sara Gutiérrez, Signer, Rebecca, Martinez-Agosto, Julian, Lee, Hane, Douine, Emilie D, Qiao, Yuchuan, Shi, Yonggang, D’Orazio, Lina, Pawar, Sanjay, Robbie, Leah, Kashani, Amir H, Singer, Maxwell, Byers, Joshua T, Magaki, Shino, Guzman, Sam, Sagare, Abhay, Zlokovic, Berislav, Cederbaum, Stephen, Nelson, Stanley, Sheikh-Bahaei, Nasim, Chui, Helena C, Chávez-Gutiérrez, Lucía, Vinters, Harry V

“…Abstract Spastic paraparesis has been described to occur in 13.7% of PSEN1 mutations and can be the presenting feature in 7.5%. In this paper, we describe a…”
Get full text

Utilidad de la ecografía torácica ante la sospecha de hernia diafragmática by Raúl Montero-Yéboles, Susana Jaraba Caballero, Sara Gutiérrez Fernández, Maria José Lorenzo-Montero, Juan Luis Pérez-Navero

Get full text

Impact of immune-related adverse events on survival in patients with metastastic urothelial carcinoma treated with immune-checkpoint inhibitors by Morales-Barrera, Rafael, Suarez Rodriguez, Cristina, Gonzalez, Macarena, Ros, Javier, Semidey, Maria Eugenia, Serra Hernandez, Ester, Mateo, Joaquin, Fernández Sáez, Carlos, Lozano, Fernando, Mast, Richard, Roche, Sarai, Quintana, Angela, Gutiérrez Fernández, Sara, Serrano, Cesar, Valverde, Claudia, de Torres, Ines, Maldonado, Xavier, Morote, Juan, Carles, Joan

“…Abstract only 4531 Background: Immune-checkpoints inhibitors (ICIs) represents the standard of care for platinum-pretreated advanced urothelial cancer patients…”
Get full text

Utilidad de la ecografía torácica ante la sospecha de hernia diafragmática by Montero-Yéboles, Raúl, Jaraba Caballero, Susana, Gutiérrez Fernández, Sara, Lorenzo-Montero, Maria José, Pérez-Navero, Juan Luis

Get full text

Management of occult hepatitis B virus infection：An update for the clinician by José Luis Liedó Conrado Fernández Maria Luisa Gutiěrrez Sara Ocana

“…Occult hepatitis B virus（HBV） infection（OBI） is defined by the presence of HBV DNA in the liver tissue of individuals who test negative for hepatitis B surface…”
Get full text