Works matching AU Fernández‐Santiago, Rubén

Results: 36
    1

    The prodromal phase of leucine-rich repeat kinase 2-associated Parkinson disease: Clinical and imaging Studies.

    Published in:
    2017
    By:
    • Pont‐Sunyer, Claustre;
    • Tolosa, Eduardo;
    • Caspell‐Garcia, Chelsea;
    • Coffey, Christopher;
    • Alcalay, Roy N.;
    • Chan, Piu;
    • Duda, John E.;
    • Facheris, Maurizio;
    • Fernández‐Santiago, Rubén;
    • Marek, Kenneth;
    • Lomeña, Francisco;
    • Marras, Connie;
    • Mondragon, Elisabet;
    • Saunders‐Pullman, Rachel;
    • Waro, Bjorg;
    • Pont-Sunyer, Claustre;
    • Caspell-Garcia, Chelsea;
    • Fernández-Santiago, Rubén;
    • Lomeña, Francisco;
    • Saunders-Pullman, Rachel
    Publication type:
    journal article
    2

    Reply.

    Published in:
    2016
    By:
    • Tell ‐ Martí, Gemma;
    • Puig ‐ Butille, Joan Anton;
    • Potrony, Miriam;
    • Badenas, Celia;
    • Milà, Montserrat;
    • Malvehy, Josep;
    • Martí, María José;
    • Ezquerra, Mario;
    • Fernández ‐ Santiago, Rubén;
    • Puig, Susana;
    • Tell-Martí, Gemma;
    • Puig-Butille, Joan Anton;
    • Milà, Montserrat;
    • Martí, María José;
    • Fernández-Santiago, Rubén
    Publication type:
    journal article
    3

    SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease.

    Published in:
    2019
    By:
    • Fernández‐Santiago, Rubén;
    • Martín‐Flores, Núria;
    • Antonelli, Francesca;
    • Cerquera, Catalina;
    • Moreno, Verónica;
    • Bandres‐Ciga, Sara;
    • Manduchi, Elisabetta;
    • Tolosa, Eduard;
    • Singleton, Andrew B.;
    • Moore, Jason H.;
    • Martí, María‐Josep;
    • Ezquerra, Mario;
    • Malagelada, Cristina;
    • Fernández-Santiago, Rubén;
    • Martín-Flores, Núria;
    • Bandres-Ciga, Sara;
    • International Parkinson's Disease Genomics Consortium;
    • Martí, María-Josep
    Publication type:
    journal article
    4

    α-synuclein (SNCA) but not dynamin 3 (DNM3) influences age at onset of leucine-rich repeat kinase 2 (LRRK2) Parkinson's disease in Spain.

    Published in:
    2018
    By:
    • Fernández‐Santiago, Rubén;
    • Garrido, Alicia;
    • Infante, Jon;
    • González‐Aramburu, Isabel;
    • Sierra, María;
    • Fernández, Manel;
    • Valldeoriola, Francesc;
    • Muñoz, Esteban;
    • Compta, Yaroslau;
    • Martí, María‐José;
    • Ríos, José;
    • Tolosa, Eduardo;
    • Ezquerra, Mario;
    • the Barcelona LRRK2 Study Group†;
    • Fernández-Santiago, Rubén;
    • González-Aramburu, Isabel;
    • Martí, María-José;
    • Barcelona LRRK2 Study Group†
    Publication type:
    journal article
    5
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    7

    Identification of blood serum micro-RNAs associated with idiopathic and LRRK2 Parkinson's disease.

    Published in:
    Journal of Neuroscience Research, 2014, v. 92, n. 8, p. 1071, doi. 10.1002/jnr.23377
    By:
    • Botta‐Orfila, Teresa;
    • Morató, Xavier;
    • Compta, Yaroslau;
    • Lozano, Juan José;
    • Falgàs, Neus;
    • Valldeoriola, Francesc;
    • Pont‐Sunyer, Claustre;
    • Vilas, Dolores;
    • Mengual, Lourdes;
    • Fernández, Manel;
    • Molinuevo, José Luis;
    • Antonell, Anna;
    • Martí, Maria José;
    • Fernández‐Santiago, Rubén;
    • Ezquerra, Mario
    Publication type:
    Article
    8

    Age at Onset in LRRK2-Associated PD is Modified by SNCA Variants.

    Published in:
    Journal of Molecular Neuroscience, 2012, v. 48, n. 1, p. 245, doi. 10.1007/s12031-012-9820-7
    By:
    • Botta-Orfila, Teresa;
    • Ezquerra, Mario;
    • Pastor, Pau;
    • Fernández-Santiago, Rubén;
    • Pont-Sunyer, Claustre;
    • Compta, Yaroslau;
    • Lorenzo-Betancor, Oswaldo;
    • Samaranch, Lluis;
    • Martí, Maria;
    • Valldeoriola, Francesc;
    • Calopa, Matilde;
    • Fernández, Manel;
    • Aguilar, Miquel;
    • Fabregas, Oriol;
    • Hernández-Vara, Jorge;
    • Tolosa, Eduard
    Publication type:
    Article
    9
    10

    Increased Phospho‐AKT in Blood Cells from LRRK2 G2019S Mutation Carriers.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 5, p. 888, doi. 10.1002/ana.26469
    By:
    • Garrido, Alicia;
    • Pérez‐Sisqués, Leticia;
    • Simonet, Cristina;
    • Campoy‐Campos, Genís;
    • Solana‐Balaguer, Júlia;
    • Martín‐Flores, Núria;
    • Fernández, Manel;
    • Soto, Marta;
    • Obiang, Donina;
    • Cámara, Ana;
    • Valldeoriola, Francesc;
    • Muñoz, Esteban;
    • Compta, Yaroslau;
    • Pérez‐Navarro, Esther;
    • Alberch, Jordi;
    • Tolosa, Eduardo;
    • Martí, María‐José;
    • Ezquerra, Mario;
    • Malagelada, Cristina;
    • Fernández‐Santiago, Rubén
    Publication type:
    Article
    11

    Reply.

    Published in:
    2016
    By:
    • Tell‐Martí, Gemma;
    • Puig‐Butille, Joan Anton;
    • Potrony, Miriam;
    • Badenas, Celia;
    • Milà, Montserrat;
    • Malvehy, Josep;
    • Martí, María José;
    • Ezquerra, Mario;
    • Fernández‐Santiago, Rubén;
    • Puig, Susana
    Publication type:
    commentary
    12

    Reply: To PMID 25631192.

    Published in:
    2015
    By:
    • Tell-Martí, Gemma;
    • Puig-Butille, Joan Anton;
    • Potrony, Miriam;
    • Badenas, Celia;
    • Milà, Montserrat;
    • Malvehy, Josep;
    • Martí, María José;
    • Ezquerra, Mario;
    • Fernández-Santiago, Rubén;
    • Puig, Susana
    Publication type:
    Letter
    13

    Reply.

    Published in:
    Annals of Neurology, 2015, v. 78, n. 1, p. 153, doi. 10.1002/ana.24418
    By:
    • Tell‐Martí, Gemma;
    • Puig‐Butille, Joan Anton;
    • Potrony, Miriam;
    • Badenas, Celia;
    • Milà, Montserrat;
    • Malvehy, Josep;
    • Martí, María José;
    • Ezquerra, Mario;
    • Fernández‐Santiago, Rubén;
    • Puig, Susana
    Publication type:
    Article
    14
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    18

    Transcriptomic differences in MSA clinical variants.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66221-4
    By:
    • Pérez-Soriano, Alexandra;
    • Arnal Segura, Magdalena;
    • Botta-Orfila, Teresa;
    • Giraldo, Darly;
    • Fernández, Manel;
    • Compta, Yaroslau;
    • Fernández-Santiago, Rubén;
    • Ezquerra, Mario;
    • Tartaglia, Gian G.;
    • Martí, M. J.;
    • the Catalan MSA Registry (CMSAR);
    • Muñoz, Esteban;
    • Pagonabarraga, Javier;
    • Valldeoriola, Francesc;
    • Hernández-Vara, Jorge;
    • Classen, Serge Jauma;
    • Puente, Victor;
    • Pont, Claustre;
    • Caballol, Núria;
    • de Fàbregues, Oriol
    Publication type:
    Article
    19

    Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 16, p. 3568, doi. 10.1093/hmg/dds188
    By:
    • Synofzik, Matthis;
    • Ronchi, Dario;
    • Keskin, Isil;
    • Basak, Ayse N.;
    • Wilhelm, Christian;
    • Gobbi, Claudio;
    • Birve, Anna;
    • Biskup, Saskia;
    • Zecca, Chiara;
    • Fernández-Santiago, Rubén;
    • Kaugesaar, Toomas;
    • Schöls, Ludger;
    • Marklund, Stefan L.;
    • Andersen, Peter M.
    Publication type:
    Article
    20
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    Correction to: The Small GTPase RAC1/CED-10 Is Essential in Maintaining Dopaminergic Neuron Function and Survival Against α-Synuclein-Induced Toxicity.

    Published in:
    Molecular Neurobiology, 2018, v. 55, n. 9, p. 7553, doi. 10.1007/s12035-018-1010-3
    By:
    • Kim, Hanna;
    • Calatayud, Carles;
    • Guha, Sanjib;
    • Fernández-Carasa, Irene;
    • Berkowitz, Laura;
    • Carballo-Carbajal, Iria;
    • Ezquerra, Mario;
    • Fernández-Santiago, Rubén;
    • Kapahi, Pankaj;
    • Raya, Ángel;
    • Miranda-Vizuete, Antonio;
    • Lizcano, Jose Miguel;
    • Vila, Miquel;
    • Caldwell, Kim A.;
    • Caldwell, Guy A.;
    • Consiglio, Antonella;
    • Dalfo, Esther
    Publication type:
    Article
    23

    The Small GTPase RAC1/CED-10 Is Essential in Maintaining Dopaminergic Neuron Function and Survival Against α-Synuclein-Induced Toxicity.

    Published in:
    Molecular Neurobiology, 2018, v. 55, n. 9, p. 7533, doi. 10.1007/s12035-018-0881-7
    By:
    • Kim, Hanna;
    • Calatayud, Carles;
    • Guha, Sanjib;
    • Fernández-Carasa, Irene;
    • Berkowitz, Laura;
    • Carballo-Carbajal, Iria;
    • Ezquerra, Mario;
    • Fernández-Santiago, Rubén;
    • Kapahi, Pankaj;
    • Raya, Ángel;
    • Miranda-Vizuete, Antonio;
    • Lizcano, Jose Miguel;
    • Vila, Miquel;
    • Caldwell, Kim A.;
    • Caldwell, Guy A.;
    • Consiglio, Antonella;
    • Dalfo, Esther
    Publication type:
    Article
    24

    CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study.

    Published in:
    Molecular Neurobiology, 2017, v. 54, n. 9, p. 6647, doi. 10.1007/s12035-016-0106-x
    By:
    • Dangla-Valls, Adrià;
    • Molinuevo, José;
    • Altirriba, Jordi;
    • Sánchez-Valle, Raquel;
    • Alcolea, Daniel;
    • Fortea, Juan;
    • Rami, Lorena;
    • Balasa, Mircea;
    • Muñoz-García, Cristina;
    • Ezquerra, Mario;
    • Fernández-Santiago, Rubén;
    • Lleó, Alberto;
    • Lladó, Albert;
    • Antonell, Anna
    Publication type:
    Article
    25

    Aberrant epigenome in iPSC-derived dopaminergic neurons from Parkinson's disease patients.

    Published in:
    EMBO Molecular Medicine, 2015, v. 7, n. 12, p. 1529, doi. 10.15252/emmm.201505439
    By:
    • Fernández‐Santiago, Rubén;
    • Carballo‐Carbajal, Iria;
    • Castellano, Giancarlo;
    • Torrent, Roger;
    • Richaud, Yvonne;
    • Sánchez‐Danés, Adriana;
    • Vilarrasa‐Blasi, Roser;
    • Sánchez‐Pla, Alex;
    • Mosquera, José Luis;
    • Soriano, Jordi;
    • López‐Barneo, José;
    • Canals, Josep M;
    • Alberch, Jordi;
    • Raya, Ángel;
    • Vila, Miquel;
    • Consiglio, Antonella;
    • Martín‐Subero, José I;
    • Ezquerra, Mario;
    • Tolosa, Eduardo
    Publication type:
    Article
    26

    α‐Synuclein Gene Hypomethylation in LRRK2 Parkinson's Disease Patients.

    Published in:
    Movement Disorders, 2025, v. 40, n. 3, p. 550, doi. 10.1002/mds.30094
    By:
    • de Mena, Lorena;
    • Parés, Guillem;
    • Garrido, Alicia;
    • Pilco‐Janeta, Daniel F.;
    • Fernández, Manel;
    • Pérez, Jesica;
    • Tolosa, Eduardo;
    • Cámara, Ana;
    • Valldeoriola, Francesc;
    • Ezquerra, Mario;
    • Martí, María‐José;
    • Fernández‐Santiago, Rubén
    Publication type:
    Article
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    MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways.

    Published in:
    Movement Disorders, 2020, v. 35, n. 10, p. 1873, doi. 10.1002/mds.28143
    By:
    • Pérez‐Soriano, Alexandra;
    • Bravo, Paloma;
    • Soto, Marta;
    • Infante, Jon;
    • Fernández, Manel;
    • Valldeoriola, Francesc;
    • Muñoz, Esteban;
    • Compta, Yaroslau;
    • Tolosa, Eduard;
    • Garrido, Alicia;
    • Ezquerra, Mario;
    • Fernández‐Santiago, Rubén;
    • Martí, María‐José;
    • Camara, Ana;
    • Giraldo, Darly;
    • Planellas, Lluís;
    • Ávila, Asunción;
    • Bayés, Àngels;
    • Botta‐Orfila, Teresa;
    • Marchese, Domenica
    Publication type:
    Article
    30

    Differential serum microRNAs in premotor LRRK2 G2019S carriers from Parkinson's disease.

    Published in:
    NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00451-x
    By:
    • Soto, Marta;
    • Fernández, Manel;
    • Bravo, Paloma;
    • Lahoz, Sara;
    • Garrido, Alicia;
    • Sánchez-Rodríguez, Antonio;
    • Rivera-Sánchez, María;
    • Sierra, María;
    • Melón, Paula;
    • Roig-García, Ana;
    • Naito, Anna;
    • Casey, Bradford;
    • Camps, Jordi;
    • Tolosa, Eduardo;
    • Martí, María-José;
    • Infante, Jon;
    • Ezquerra, Mario;
    • Fernández-Santiago, Rubén
    Publication type:
    Article
    31
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    Discovering the 3' UTR-mediated regulation of alpha-synuclein.

    Published in:
    Nucleic Acids Research, 2017, v. 45, n. 22, p. 12888, doi. 10.1093/nar/gkx1048
    By:
    • Marchese, Domenica;
    • Botta-Orfila, Teresa;
    • Cirillo, Davide;
    • Rodriguez, Juan Antonio;
    • Livi., Carmen Maria;
    • Fernández-Santiago, Rubén;
    • Ezquerra, Mario;
    • Martí, Maria J.;
    • Bechara, Elias;
    • Tartaglia, Gian Gaetano
    Publication type:
    Article
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