GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment

por Ruiz-Martinez, Javier, Krebs, Catharine E., Makarov, Vladimir, Gorostidi, Ana, Martí-Massó, Jose Félix, Paisán-Ruiz, Coro
Publicado 2015

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor

por Sánchez, Elena, Bergareche, Alberto, Krebs, Catharine E., Gorostidi, Ana, Makarov, Vladimir, Ruiz-Martinez, Javier, Chorny, Alejo, Lopez de Munain, Adolfo, Marti-Masso, Jose Felix, Paisán-Ruiz, Coro
Publicado 2015

Analysis of Fine Motor Skills in Essential Tremor: Combining Neuroimaging and Handwriting Biomarkers for Early Management

por Lopez-de-Ipina, Karmele, Solé-Casals, Jordi, Sánchez-Méndez, José Ignacio, Romero-Garcia, Rafael, Fernandez, Elsa, Requejo, Catalina, Poologaindran, Anujan, Faúndez-Zanuy, Marcos, Martí-Massó, José Félix, Bergareche, Alberto, Suckling, John
Publicado 2021

Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation()

por Manzoni, Claudia, Mamais, Adamantios, Dihanich, Sybille, McGoldrick, Phillip, Devine, Michael J., Zerle, Julia, Kara, Eleanna, Taanman, Jan-Willem, Healy, Daniel G., Marti-Masso, Jose-Felix, Schapira, Anthony H., Plun-Favreau, Helene, Tooze, Sharon, Hardy, John, Bandopadhyay, Rina, Lewis, Patrick A.
Publicado 2013

Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue

por Devine, Michael J., Kaganovich, Alice, Ryten, Mina, Mamais, Adamantios, Trabzuni, Daniah, Manzoni, Claudia, McGoldrick, Philip, Chan, Diane, Dillman, Allissa, Zerle, Julia, Horan, Susannah, Taanman, Jan-Willem, Hardy, John, Marti-Masso, Jose-Felix, Healey, Daniel, Schapira, Anthony H., Wolozin, Benjamin, Bandopadhyay, Rina, Cookson, Mark R., van der Brug, Marcel P., Lewis, Patrick A.
Publicado 2011

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue

por Devine, Michael J., Kaganovich, Alice, Ryten, Mina, Mamais, Adamantios, Trabzuni, Daniah, Manzoni, Claudia, McGoldrick, Philip, Chan, Diane, Dillman, Allissa, Zerle, Julia, Horan, Susannah, Taanman, Jan-Willem, Hardy, John, Marti-Masso, Jose-Felix, Healy, Daniel, Schapira, Anthony H., Wolozin, Benjamin, Bandopadhyay, Rina, Cookson, Mark R., van der Brug, Marcel P., Lewis, Patrick A.
Publicado 2012

Inflammatory profile in LRRK2-associated prodromal and clinical PD

por Brockmann, Kathrin, Apel, Anja, Schulte, Claudia, Schneiderhan-Marra, Nicole, Pont-Sunyer, Claustre, Vilas, Dolores, Ruiz-Martinez, Javier, Langkamp, Markus, Corvol, Jean-Christophe, Cormier, Florence, Knorpp, Thomas, Joos, Thomas O., Gasser, Thomas, Schüle, Birgitt, Aasly, Jan O., Foroud, Tatiana, Marti-Masso, Jose Felix, Brice, Alexis, Tolosa, Eduardo, Marras, Connie, Berg, Daniela, Maetzler, Walter
Publicado 2016

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

por Wray, Selina, Self, Matthew, Lewis, Patrick A., Taanman, Jan-Willem, Ryan, Natalie S., Mahoney, Colin J., Liang, Yuying, Devine, Michael J., Sheerin, Una-Marie, Houlden, Henry, Morris, Huw R., Healy, Daniel, Marti-Masso, Jose-Felix, Preza, Elisavet, Barker, Suzanne, Sutherland, Margaret, Corriveau, Roderick A., D'Andrea, Michael, Schapira, Anthony H. V., Uitti, Ryan J., Guttman, Mark, Opala, Grzegorz, Jasinska-Myga, Barbara, Puschmann, Andreas, Nilsson, Christer, Espay, Alberto J., Slawek, Jaroslaw, Gutmann, Ludwig, Boeve, Bradley F., Boylan, Kevin, Stoessl, A. Jon, Ross, Owen A., Maragakis, Nicholas J., Van Gerpen, Jay, Gerstenhaber, Melissa, Gwinn, Katrina, Dawson, Ted M., Isacson, Ole, Marder, Karen S., Clark, Lorraine N., Przedborski, Serge E., Finkbeiner, Steven, Rothstein, Jeffrey D., Wszolek, Zbigniew K., Rossor, Martin N., Hardy, John
Publicado 2012