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

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

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

द्वारा 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
में प्रकाशित ASN Neuro (2015)

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

द्वारा 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
प्रकाशित 2013

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

द्वारा 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
में प्रकाशित Hum Mol Genet (2015)

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

द्वारा 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
में प्रकाशित Front Hum Neurosci (2021)

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

द्वारा 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
में प्रकाशित JAMA Neurol (2015)

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

द्वारा 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.
प्रकाशित 2013

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

द्वारा 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.
प्रकाशित 2011

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

द्वारा 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.
प्रकाशित 2012

Inflammatory profile in LRRK2-associated prodromal and clinical PD

द्वारा 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
में प्रकाशित J Neuroinflammation (2016)

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

द्वारा 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
में प्रकाशित Genet Med (2014)

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

द्वारा 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
प्रकाशित 2012