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

le Ruiz-Martinez, Javier, Krebs, Catharine E., Makarov, Vladimir, Gorostidi, Ana, Martí-Massó, Jose Félix, Paisán-Ruiz, Coro
Foilsithe in J Hum Genet (2015)

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

le 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
Foilsithe in ASN Neuro (2015)

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

le 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
Foilsithe 2013

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

le 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
Foilsithe in Hum Mol Genet (2015)

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

le 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
Foilsithe in Front Hum Neurosci (2021)

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

le 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
Foilsithe in JAMA Neurol (2015)

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

le 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.
Foilsithe 2013

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

le 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.
Foilsithe 2011

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

le 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.
Foilsithe 2012

Inflammatory profile in LRRK2-associated prodromal and clinical PD

le 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
Foilsithe in J Neuroinflammation (2016)

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

le 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
Foilsithe in Genet Med (2014)

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

le 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
Foilsithe 2012