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

מאת Ruiz-Martinez, Javier, Krebs, Catharine E., Makarov, Vladimir, Gorostidi, Ana, Martí-Massó, Jose Félix, Paisán-Ruiz, Coro
הוצא לאור ב J Hum Genet (2015)

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

מאת 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
הוצא לאור ב ASN Neuro (2015)

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

מאת 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
יצא לאור 2013

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

מאת 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
הוצא לאור ב Hum Mol Genet (2015)

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

מאת 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
הוצא לאור ב Front Hum Neurosci (2021)

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

מאת 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
הוצא לאור ב JAMA Neurol (2015)

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

מאת 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.
יצא לאור 2013

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

מאת 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.
יצא לאור 2011

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

מאת 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.
יצא לאור 2012

Inflammatory profile in LRRK2-associated prodromal and clinical PD

מאת 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
הוצא לאור ב J Neuroinflammation (2016)

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

מאת 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
הוצא לאור ב Genet Med (2014)

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

מאת 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
יצא לאור 2012