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 no J Hum Genet (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 no ASN Neuro (2015)

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

Por Martí-Massó, Jose Felix, Bergareche, Alberto, Makarov, Vladimir, Ruiz-Martinez, Javier, Gorostidi, Ana, de Munain, Adolfo López, Poza, Juan Jose, Striano, Pasquale, Buxbaum, Joseph D., Paisán-Ruiz, Coro
Publicado em 2013

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

Por Bergareche, Alberto, Bednarz, Marcin, Sánchez, Elena, Krebs, Catharine E., Ruiz-Martinez, Javier, De La Riva, Patricia, Makarov, Vladimir, Gorostidi, Ana, Jurkat-Rott, Karin, Marti-Masso, Jose Felix, Paisán-Ruiz, Coro
Publicado no Hum Mol Genet (2015)

Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson's disease: A pooled analysis

Por Agalliu, Ilir, Luciano, Marta San, Mirelman, Anat, Giladi, Nir, Waro, Bjorg, Aasly, Jan, Inzelberg, Rivka, Hassin-Baer, Sharon, Friedman, Eitan, Ruiz-Martinez, Javier, Marti-Masso, Jose Felix, Orr-Urtreger, Avi, Bressman, Susan, Saunders-Pullman, Rachel
Publicado no JAMA Neurol (2015)

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 em 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 em 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 em 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 no J Neuroinflammation (2016)

Michael J. Fox Foundation Consortium: Geographical Differences in Returning Genetic Research Data to Study Participants

Por Alcalay, Roy N., Aasly, Jan, Berg, Daniela, Bressman, Susan, Brice, Alexis, Brockmann, Kathrin, Chan, Piu, Clark, Lorraine, Corvol, Jean-Christophe, Durr, Alexandra, Farrer, Matthew, Foroud, Tatiana M., Gasser, Thomas, Giladi, Nir, Halter, Cheryl, Hentati, Fayçal, Lang, Anthony, Langston, J. William, Marder, Karen, Marras, Connie, Marti-Masso, Jose-Felix, Martinez, Javier Ruiz, Mejia-Santana, Helen, Mirelman, Anat, Pont, Claustre, Orr-Urtreger, Avi, Raymond, Deborah, Saunders-Pullman, Rachel, Schüle, Birgitt, Tanner, Caroline, Tolosa, Eduardo, Vilas, Dolores, Wise, Adina, Facheris, Maurizio
Publicado no Genet Med (2014)

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 em 2012