Found: 26

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  • Multiple system atrophy and apolipoprotein E.

    Published in:
    2018
    By:
    • Ogaki, Kotaro;
    • Martens, Yuka A.;
    • Heckman, Michael G.;
    • Koga, Shunsuke;
    • Labbé, Catherine;
    • Lorenzo‐Betancor, Oswaldo;
    • Wernick, Anna I.;
    • Walton, Ronald L.;
    • Soto, Alexandra I.;
    • Vargas, Emily R.;
    • Nielsen, Henrietta M.;
    • Fujioka, Shinsuke;
    • Kanekiyo, Takahisa;
    • Uitti, Ryan J.;
    • van Gerpen, Jay A.;
    • Cheshire, William P.;
    • Wszolek, Zbigniew K.;
    • Low, Phillip A.;
    • Singer, Wolfgang;
    • Dickson, Dennis W.
    Publication type:
    journal article

  • Automated Neuromelanin Imaging as a Diagnostic Biomarker for Parkinson's Disease.

    Published in:
    Movement Disorders, 2015, v. 30, n. 7, p. 945, doi. 10.1002/mds.26201
    By:
    • Castellanos, Gabriel;
    • Fernández‐Seara, María A.;
    • Lorenzo‐Betancor, Oswaldo;
    • Ortega‐Cubero, Sara;
    • Puigvert, Marc;
    • Uranga, Javier;
    • Vidorreta, Marta;
    • Irigoyen, Jaione;
    • Lorenzo, Elena;
    • Muñoz‐Barrutia, Arrate;
    • Ortiz‐de‐Solorzano, Carlos;
    • Pastor, Pau;
    • Pastor, María A.
    Publication type:
    Article

  • Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.

    Published in:
    Movement Disorders, 2012, v. 27, n. 14, p. 1823, doi. 10.1002/mds.25226
    By:
    • Mata, Ignacio F.;
    • Checkoway, Harvey;
    • Hutter, Carolyn M.;
    • Samii, Ali;
    • Roberts, John W.;
    • Kim, Hojoong M.;
    • Agarwal, Pinky;
    • Alvarez, Victoria;
    • Ribacoba, Renee;
    • Pastor, Pau;
    • Lorenzo-Betancor, Oswaldo;
    • Infante, Jon;
    • Sierra, María;
    • Gómez-Garre, Pilar;
    • Mir, Pablo;
    • Ritz, Beate;
    • Rhodes, Shannon L.;
    • Colcher, Amy;
    • Van Deerlin, Vivianna;
    • Chung, Kathryn A.
    Publication type:
    Article

  • LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.

    Published in:
    Movement Disorders, 2012, v. 27, n. 1, p. 146, doi. 10.1002/mds.23968
    By:
    • Lorenzo-Betancor, Oswaldo;
    • Samaranch, Lluís;
    • Ezquerra, Mario;
    • Tolosa, Eduardo;
    • Lorenzo, Elena;
    • Irigoyen, Jaione;
    • Gaig, Carles;
    • Pastor, María A.;
    • Soto-Ortolaza, Alexandra I.;
    • Ross, Owen A.;
    • Rodríguez-Oroz, María C.;
    • Valldeoriola, Francesc;
    • Martí, María J.;
    • Luquin, María R.;
    • Perez-Tur, Jordi;
    • Burguera, Juan A.;
    • Obeso, José A.;
    • Pastor, Pau
    Publication type:
    Article

  • Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.

    Published in:
    Movement Disorders, 2011, v. 26, n. 5, p. 819, doi. 10.1002/mds.23642
    By:
    • Mata, Ignacio F.;
    • Yearout, Dora;
    • Alvarez, Victoria;
    • Coto, Eliecer;
    • de Mena, Lorena;
    • Ribacoba, Renee;
    • Lorenzo-Betancor, Oswaldo;
    • Samaranch, Lluis;
    • Pastor, Pau;
    • Cervantes, Sebastian;
    • Infante, Jon;
    • Garcia-Gorostiaga, Ines;
    • Sierra, Maria;
    • Combarros, Onofre;
    • Snapinn, Katherine W.;
    • Edwards, Karen L.;
    • Zabetian, Cyrus P.
    Publication type:
    Article

  • LINGO1 gene analysis in Parkinson's disease phenotypes.

    Published in:
    Movement Disorders, 2011, v. 26, n. 4, p. 722, doi. 10.1002/mds.23452
    By:
    • Lorenzo-Betancor, Oswaldo;
    • Samaranch, Lluís;
    • García-Martín, Elena;
    • Cervantes, Sebastián;
    • Agúndez, José A.G.;
    • Jiménez-Jiménez, Félix J.;
    • Alonso-Navarro, Hortensia;
    • Luengo, Antonio;
    • Coria, Francisco;
    • Lorenzo, Elena;
    • Irigoyen, Jaione;
    • Pastor, Pau
    Publication type:
    Article

  • Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1328, doi. 10.1038/ejhg.2014.300
    By:
    • Schulte, Eva C;
    • Fukumori, Akio;
    • Mollenhauer, Brit;
    • Hor, Hyun;
    • Arzberger, Thomas;
    • Perneczky, Robert;
    • Kurz, Alexander;
    • Diehl-Schmid, Janine;
    • Hüll, Michael;
    • Lichtner, Peter;
    • Eckstein, Gertrud;
    • Zimprich, Alexander;
    • Haubenberger, Dietrich;
    • Pirker, Walter;
    • Brücke, Thomas;
    • Bereznai, Benjamin;
    • Molnar, Maria J;
    • Lorenzo-Betancor, Oswaldo;
    • Pastor, Pau;
    • Peters, Annette
    Publication type:
    Article

  • Genome-wide association study in essential tremor identifies three new loci.

    Published in:
    Brain: A Journal of Neurology, 2016, v. 139, n. 12, p. 3163, doi. 10.1093/brain/aww242
    By:
    • Müller, Stefanie H.;
    • Girard, Simon L.;
    • Hopfner, Franziska;
    • Merner, Nancy D.;
    • Bourassa, Cynthia V.;
    • Lorenz, Delia;
    • Clark, Lorraine N.;
    • Tittmann, Lukas;
    • Soto-Ortolaza, Alexandra I.;
    • Klebe, Stephan;
    • Hallett, Mark;
    • Schneider, Susanne A.;
    • Hodgkinson, Colin A.;
    • Lieb, Wolfgang;
    • Wszolek, Zbigniew K.;
    • Pendziwiat, Manuela;
    • Lorenzo-Betancor, Oswaldo;
    • Poewe, Werner;
    • Ortega-Cubero, Sara;
    • Seppi, Klaus
    Publication type:
    Article

  • Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

    Published in:
    2016
    By:
    • Lorenzo‐Betancor, Oswaldo;
    • Wszolek, Zbigniew K.;
    • Ross, Owen A.
    Publication type:
    commentary

  • Epigenetic regulation in Parkinson's disease.

    Published in:
    Acta Neuropathologica, 2016, v. 132, n. 4, p. 515, doi. 10.1007/s00401-016-1590-9
    By:
    • Labbé, Catherine;
    • Lorenzo-Betancor, Oswaldo;
    • Ross, Owen
    Publication type:
    Article

  • PNPLA6‐Related Disorder with Levodopa‐Responsive Parkinsonism.

    Published in:
    Movement Disorders Clinical Practice, 2023, v. 10, n. 2, p. 338, doi. 10.1002/mdc3.13632
    By:
    • Kazanci, Serdar;
    • Witt, Jennifer;
    • Su, Kimmy;
    • Lorenzo‐Betancor, Oswaldo;
    • Yearout, Dora;
    • Zabetian, Cyrus P.;
    • Davis, Marie Y.
    Publication type:
    Article

  • An association study between Heme oxygenase-1 genetic variants and Parkinson's disease.

    Published in:
    Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00298
    By:
    • Ayuso, Pedro;
    • Martínez, Carmen;
    • Pastor, Pau;
    • Lorenzo-Betancor, Oswaldo;
    • Luengo, Antonio;
    • Jiménez-Jiménez, Félix J.;
    • Alonso-Navarro, Hortensia;
    • Agúndez, José A. G.;
    • García-Martín, Elena
    Publication type:
    Article

  • MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, n. 12, p. 1297, doi. 10.1016/j.jalz.2016.05.002
    By:
    • Labbé, Catherine;
    • Heckman, Michael G.;
    • Lorenzo-Betancor, Oswaldo;
    • Soto-Ortolaza, Alexandra I.;
    • Walton, Ronald L.;
    • Murray, Melissa E.;
    • Allen, Mariet;
    • Uitti, Ryan J.;
    • Wszolek, Zbigniew K.;
    • Smith, Glenn E.;
    • Kantarci, Kejal;
    • Knopman, David S.;
    • Lowe, Val J.;
    • Jr.Jack, Clifford R.;
    • Ertekin-Taner, Nilüfer;
    • Hassan, Anhar;
    • Savica, Rodolfo;
    • Petersen, Ronald C.;
    • Parisi, Joseph E.;
    • Maraganore, Demetrius M.
    Publication type:
    Article

  • Analysis of Nuclear Export Sequence Regions of FUS-Related RNA-Binding Proteins in Essential Tremor.

    Published in:
    PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111989
    By:
    • Lorenzo-Betancor, Oswaldo;
    • Ogaki, Kotaro;
    • Soto-Ortolaza, Alexandra;
    • Labbé, Catherine;
    • Vilariño-Güell, Carles;
    • Rajput, Alex;
    • Rajput, Ali H.;
    • Pastor, Pau;
    • Ortega, Sara;
    • Lorenzo, Elena;
    • Strongosky, Audrey J.;
    • van Gerpen, Jay A.;
    • Uitti, Ryan J.;
    • Wszolek, Zbigniew K.;
    • Ross, Owen A.
    Publication type:
    Article

  • H1-MAPT and the Risk for Familial Essential Tremor.

    Published in:
    PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041581
    By:
    • García-Martín, Elena;
    • Martínez, Carmen;
    • Alonso-Navarro, Hortensia;
    • Benito-León, Julián;
    • Lorenzo-Betancor, Oswaldo;
    • Pastor, Pau;
    • López-Alburquerque, Tomás;
    • Samaranch, Lluis;
    • Lorenzo, Elena;
    • Agúndez, José A. G.;
    • Jiménez-Jiménez, Fé lix Javier
    Publication type:
    Article

  • LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis.

    Published in:
    BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-34
    By:
    • García-Martín, Elena;
    • Lorenzo-Betancor, Oswaldo;
    • Martínez, Carmen;
    • Pastor, Pau;
    • Benito-León, Julián;
    • Millán-Pascual, Jorge;
    • Díaz-Sánchez, María;
    • Pisa, Diana;
    • Turpín-Fenoll, Laura;
    • Alonso-Navarro, Hortensia;
    • Ayuso-Peralta, Lucía;
    • Torrecillas, Dolores;
    • Lorenzo, Elena;
    • Plaza-Nieto, José Francisco;
    • Agúndez, José A G;
    • Jiménez-Jiménez, Félix Javier
    Publication type:
    Article

  • LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis.

    Published in:
    2013
    By:
    • García-Martín, Elena;
    • Lorenzo-Betancor, Oswaldo;
    • Martínez, Carmen;
    • Pastor, Pau;
    • Benito-León, Julián;
    • Millán-Pascual, Jorge;
    • Calleja, Patricia;
    • Díaz-Sánchez, María;
    • Pisa, Diana;
    • Turpín-Fenoll, Laura;
    • Alonso-Navarro, Hortensia;
    • Ayuso-Peralta, Lucía;
    • Torrecillas, Dolores;
    • Lorenzo, Elena;
    • Plaza-Nieto, José Francisco;
    • Agúndez, José A G;
    • Jiménez-Jiménez, Félix Javier
    Publication type:
    journal article

  • (Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation.

    Published in:
    EMBO Reports, 2015, v. 16, n. 9, p. 1114, doi. 10.15252/embr.201540514
    By:
    • Fiesel, Fabienne C;
    • Ando, Maya;
    • Hudec, Roman;
    • Hill, Anneliese R;
    • Castanedes‐Casey, Monica;
    • Caulfield, Thomas R;
    • Moussaud‐Lamodière, Elisabeth L;
    • Stankowski, Jeannette N;
    • Bauer, Peter O;
    • Lorenzo‐Betancor, Oswaldo;
    • Ferrer, Isidre;
    • Arbelo, José M;
    • Siuda, Joanna;
    • Chen, Li;
    • Dawson, Valina L;
    • Dawson, Ted M;
    • Wszolek, Zbigniew K;
    • Ross, Owen A;
    • Dickson, Dennis W;
    • Springer, Wolfdieter
    Publication type:
    Article

  • PINK1-linked parkinsonism is associated with Lewy body pathology.

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 4, p. 1128, doi. 10.1093/brain/awq051
    By:
    • Samaranch, Lluís;
    • Lorenzo-Betancor, Oswaldo;
    • Arbelo, José M.;
    • Ferrer, Isidre;
    • Lorenzo, Elena;
    • Irigoyen, Jaione;
    • Pastor, Maria A.;
    • Marrero, Carmen;
    • Isla, Concepción;
    • Herrera-Henriquez, Joanna;
    • Pastor, Pau
    Publication type:
    Article

  • Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.

    Published in:
    Journal of Neurology, 2011, v. 258, n. 2, p. 203, doi. 10.1007/s00415-010-5708-z
    By:
    • García-Martín, Elena;
    • Martínez, Carmen;
    • Alonso-Navarro, Hortensia;
    • Benito-León, Julián;
    • Lorenzo-Betancor, Oswaldo;
    • Pastor, Pau;
    • Puertas, Inmaculada;
    • Rubio, Lluisa;
    • López-Alburquerque, Tomás;
    • Agúndez, José;
    • Jiménez-Jiménez, Félix
    Publication type:
    Article

  • Mutational Screening of PARKIN Identified a 3′ UTR Variant (rs62637702) Associated with Parkinson's Disease.

    Published in:
    Journal of Molecular Neuroscience, 2013, v. 50, n. 2, p. 264, doi. 10.1007/s12031-012-9942-y
    By:
    • Mena, Lorena;
    • Samaranch, LLuís;
    • Coto, Eliecer;
    • Cardo, Lucía;
    • Ribacoba, René;
    • Lorenzo-Betancor, Oswaldo;
    • Pastor, Pau;
    • Wang, Li;
    • Irigoyen, Jaione;
    • Mata, Ignacio;
    • Díaz, Marta;
    • Moris, Germán;
    • Menéndez, Manuel;
    • Corao, Ana;
    • Lorenzo, Elena;
    • Alvarez, Victoria
    Publication type:
    Article

  • 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

  • A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson's Disease.

    Published in:
    Journal of Molecular Neuroscience, 2012, v. 47, n. 3, p. 425, doi. 10.1007/s12031-011-9669-1
    By:
    • Cardo, Lucía;
    • Coto, Eliecer;
    • Mena, Lorena;
    • Ribacoba, René;
    • Lorenzo-Betancor, Oswaldo;
    • Pastor, Pau;
    • Samaranch, LLuis;
    • Mata, Ignacio;
    • Díaz, Marta;
    • Moris, Germán;
    • Menéndez, Manuel;
    • Corao, Ana;
    • Alvarez, Victoria
    Publication type:
    Article

  • Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body‐like Pathology in Parrots.

    Published in:
    Movement Disorders, 2022, v. 37, n. 12, p. 2345, doi. 10.1002/mds.29211
    By:
    • Lorenzo‐Betancor, Oswaldo;
    • Galosi, Livio;
    • Bonfili, Laura;
    • Eleuteri, Anna Maria;
    • Cecarini, Valentina;
    • Verin, Ranieri;
    • Dini, Fabrizio;
    • Attili, Anna‐Rita;
    • Berardi, Sara;
    • Biagini, Lucia;
    • Robino, Patrizia;
    • Stella, Maria Cristina;
    • Yearout, Dora;
    • Dorschner, Michael O.;
    • Tsuang, Debby W.;
    • Rossi, Giacomo;
    • Zabetian, Cyrus P.
    Publication type:
    Article

  • Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 20, p. 5677, doi. 10.1093/hmg/ddv281
    By:
    • Hyun Hor;
    • Francescatto, Ludmila;
    • Bartesaghi, Luca;
    • Ortega-Cubero, Sara;
    • Kousi, Maria;
    • Lorenzo-Betancor, Oswaldo;
    • Jiménez-Jiménez, Felix J.;
    • Gironell, Alexandre;
    • Clarimón, Jordi;
    • Drechsel, Oliver;
    • Agúndez, José A. G.;
    • Kenzelmann Broz, Daniela;
    • Chiquet-Ehrismann, Ruth;
    • Lleó, Alberto;
    • Coria, Francisco;
    • García-Martin, Elena;
    • Alonso-Navarro, Hortensia;
    • Martí, Maria J.;
    • Kulisevsky, Jaume;
    • Hor, Charlotte N.
    Publication type:
    Article

  • Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson’s Disease Locus.

    Published in:
    PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128586
    By:
    • Labbé, Catherine;
    • Ogaki, Kotaro;
    • Lorenzo-Betancor, Oswaldo;
    • Carrasquillo, Minerva M.;
    • Heckman, Michael G.;
    • McCarthy, Allan;
    • Soto-Ortolaza, Alexandra I.;
    • Walton, Ronald L.;
    • Lynch, Timothy;
    • Siuda, Joanna;
    • Opala, Grzegorz;
    • Krygowska-Wajs, Anna;
    • Barcikowska, Maria;
    • Czyzewski, Krzysztof;
    • Dickson, Dennis W.;
    • Uitti, Ryan J.;
    • Wszolek, Zbigniew K.;
    • Ross, Owen A.
    Publication type:
    Article