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13 p, 2.4 MB |
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
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Chen, Zhongbo (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Zhang, David (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Reynolds, Regina H. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Gustavsson, Emil K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
García-Ruiz, Sonia (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
D'Sa, Karishma (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Fairbrother-Browne, Aine (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Noyce, Alastair J. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Middlehurst, Ben (Institute of Translational Medicine. University of Liverpool) ;
Kia, Demis A. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Tan, Manuela (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Morris, Huw R. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Plun-Favreau, Helen (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Trabzuni, Daniah (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ;
Bras, Jose (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Quinn, John (Institute of Translational Medicine. University of Liverpool) ;
Mok, Kin Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kinghorn, Kerri J. (Institute of Healthy Ageing. University College London (UCL)) ;
Billingsley, Kimberley (Institute of Translational Medicine. University of Liverpool) ;
Wood, Nicholas W.. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Lewis, Patrick (University of Reading) ;
Schreglmann, Sebastian (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Guerreiro, Rita (UK Dementia Research Institute. University College London (UCL)) ;
Lovering, Ruth (Institute of Cardiovascular Science. University College London (UCL)) ;
R'Bibo, Lea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Manzoni, Claudia (University of Reading) ;
Rizig, Mie (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Guelfi, Sebastian (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ;
Escott-Price, Valentina (Cardiff University School of Medicine) ;
Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Foltynie, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Williams, Nigel (Cardiff University School of Medicine) ;
Brice, Alexis (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Danjou, Fabrice (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Lesage, Suzanne (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Corvol, Jean-Christophe (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Martinez Rande, Maria (INSERM UMR 1220 and Paul Sabatier University) ;
Schulte, Claudia (German Center for Neurodegenerative Diseases) ;
Brockmann, Kathrin (German Center for Neurodegenerative Diseases) ;
Simón-Sánchez, Javier (German Center for Neurodegenerative Diseases) ;
Heutink, Peter (German Center for Neurodegenerative Diseases) ;
Rizzu, Patrizia (German Center for Neurodegenerative Diseases) ;
Sharma, Manu (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ;
Gasser, Thomas (German Center for Neurodegenerative Diseases) ;
Nicolas, Aude (National Institute on Aging (Estats Units d'Amèrica)) ;
Cookson, Mark R (National Institute on Aging (Estats Units d'Amèrica)) ;
Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ;
Craig, David W (Department of Translational Genomics. Keck School of Medicine. University of Southern California) ;
Faghri, Faraz (Department of Computer Science. University of Illinois at Urbana-Champaign) ;
Gibbs, J.Raphael (National Institute on Aging (Estats Units d'Amèrica)) ;
Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ;
Van Keuren-Jensen, Kendall (Neurogenomics Division. TGen) ;
Shulman, Joshua M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Leonard, Hampton L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, Mike A. (Data Tecnica International) ;
Robak, Laurie (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Lubbe, Steven (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ;
Mencacci, Niccolo E. (Northwestern University Feinberg School of Medicine) ;
Lungu, Codrin (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Singleton, Andrew B. (Laboratory of Neurogenetics. National Institute on Aging) ;
Scholz, Sonja (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ;
Reed, Xylena (Laboratory of Neurogenetics. National Institute on Aging) ;
Alcalay, Roy N (Taub Institute for Research on Alzheimer's Disease and the Aging Brain. College of Physicians and Surgeons. Columbia University Medical Center) ;
Gan-Or, Ziv (McGill University) ;
Rouleau, Guy A. (McGill University) ;
Krohn, Lynne (McGill University) ;
van Hilten, Jacobus J. (Department of Neurology. Leiden University Medical Center) ;
Marinus, Johan (Department of Neurology. Leiden University Medical Center) ;
Adarmes-Gómez, A.D (Instituto de Biomedicina de Sevilla) ;
Aguilar Barberà, Miquel (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria (Hospital Universitario Central de Asturias) ;
Barrero, Francisco Javier (Hospital Universitario San Cecilio (Granada)) ;
Bergareche Yarza, Jesús Alberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, Inmaculada (Hospital Clínic i Provincial de Barcelona) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, Marta (Hospital Clínic i Provincial de Barcelona) ;
Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Boungiorno, M. T (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla) ;
Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, Fátima (Instituto de Biomedicina de Sevilla) ;
Carrión-Claro, M (Instituto de Biomedicina de Sevilla) ;
Cerdan, Debora (Hospital General de Segovia) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, Monica (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Duarte, Jacinto (Hospital General de Segovia) ;
Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ;
Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ;
Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ;
Garcia, Ciara (Hospital Universitario Central de Asturias) ;
García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, Pilar (Instituto de Biomedicina de Sevilla) ;
Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Gorostidi Pagola, Ana (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ;
Infante, Jon (Hospital Universitario Ramón y Cajal (Madrid)) ;
Jesús, Silvia (Instituto de Biomedicina de Sevilla) ;
Jimenez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A (Instituto de Biomedicina de Sevilla) ;
Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ;
López de Munain Arregui, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macias, Daniel (Instituto de Biomedicina de Sevilla) ;
Martínez Torres, Irene (Hospital Universitari i Politècnic La Fe (València)) ;
Marín, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, Juan Carlos (Hospital Universitario Ramón y Cajal (Madrid)) ;
Méndez-del-Barrio, Carlota (Instituto de Biomedicina de Sevilla) ;
Menéndez González, Manuel (Hospital Universitario Central de Asturias) ;
Mata, Marina (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Mínguez, Adolfo (Instituto de Investigación Sanitaria de Granada) ;
Mir, Pablo (Instituto de Biomedicina de Sevilla) ;
Mondragon Rezola, Elisabet (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, Esteban (Instituto de Biomedicina de Sevilla) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Perez Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, Teresa (Instituto de Biomedicina de Sevilla) ;
Ruiz-Martínez, Javier (Hospital Universitario Donostia. Instituto de Investigación Sanitaria Biodonostia) ;
Ruz, Clara (Centro de Investigacion Biomedica. Universidad de Granada) ;
Sanchez Rodriguez, Antonio (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, María (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, Esther (Hospital Universitario Central de Asturias) ;
Tabernero, Cesar (Hospital General de Segovia) ;
Tartari, Juan Pablo (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Tejera-Parrado, Cristina (Instituto de Biomedicina de Sevilla) ;
Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, Laura (Instituto de Biomedicina de Sevilla) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, Francisco (Centro de Investigacion Biomedica. Universidad de Granada) ;
Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ;
Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ;
Toft, Mathias (Oslo University Hospital (Oslo, Noruega)) ;
Koks, Sulev (Department of Reproductive Biology. Estonian University of Life Sciences) ;
Taba, Pille (Department of Neurology and Neurosurgery. University of Tartu) ;
Hassin-Baer, Sharon (Sackler Faculty of Medicine. Tel Aviv University) ;
Hardy, John (Institute for Advanced Study. The Hong Kong University of Science and Technology. The Hong Kong University of Science and Technology) ;
Houlden, Henry (Department of Neuromuscular Disease. Queen Square Institute of Neurology. UCL) ;
Gagliano Taliun, Sarah A. (Montréal Heart Institute) ;
Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Ryten, Mina (Great Ormond Street Institute of Child Health (Londres, Regne Unit)) ;
Universitat Autònoma de Barcelona
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. [...]
2021 -  10.1038/s41467-021-22262-5
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 2076
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18 p, 6.7 MB |
Identification of sixteen novel candidate genes for late onset Parkinson's disease
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Gialluisi, Alessandro (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Reccia, Mafalda Giovanna (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Modugno, Nicola (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Nutile, Teresa (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Lombardi, Alessia (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Di Giovannantonio, Luca Giovanni (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Pietracupa, Sara (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Ruggiero, Daniela (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Scala, Simona (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Gambardella, Stefano (Department of Biomolecular Science. University of Urbino Carlo Bò) ;
Noyce, Alastair J. ;
Kaiyrzhanov, Rauan ;
Middlehurst, Ben ;
Kia, Demis A. ;
Tan, Manuela ;
Houlden, Henry ;
Morris, Huw R. ;
Plun-Favreau, Helen ;
Holmans, Peter ;
Hardy, John ;
Trabzuni, Daniah ;
Quinn, John ;
Bubb, Vivien ;
Mok, Kin Y. ;
Kinghorn, Kerri J. ;
Billingsley, Kimberley ;
Wood, Nicholas W.. ;
Lewis, Patrick ;
Schreglmann, Sebastian ;
Lovering, Rruth ;
R'Bibo, Lea ;
Manzoni, Claudia ;
Rizig, Mie ;
Ryten, Mina ;
Guelfi, Sebastian ;
Escott-Price, Valentina ;
Chelban, Viorica ;
Foltynie, Thomas ;
Williams, Nigel ;
Morrison, Karen E. ;
Clarke, Carl ;
Brice, Alexis ;
Danjou, Fabrice ;
Lesage, Suzanne ;
Corvol, Jean-Christophe ;
Martinez Rande, Maria (INSERM UMR 1220) ;
Schulte, Claudia ;
Brockmann, Kathrin ;
Simón-Sánchez, Javier ;
Heutink, Peter ;
Rizzu, Patrizia ;
Sharma, Manu ;
Gasser, Thomas ;
Cookson, Mark R. ;
Bandres-Ciga, Sara ;
Blauwendraat, Cornelis ;
Craig, David W. ;
Narendra, Derek ;
Faghri, Faraz ;
Gibbs, J.Raphael ;
Hernandez, Dena G. ;
Van Keuren-Jensen, Kendall ;
Shulman, Joshua M. ;
Iwaki, Hirotaka ;
Leonard, Hampton L. ;
Nalls, Mike A. ;
Robak, Laurie ;
Bras, Jose ;
Guerreiro, Rita ;
Lubbe, Steven ;
Finkbeiner, Steven ;
Mencacci, Niccolo E. ;
Lungu, Codrin ;
Singleton, Andrew B. ;
Scholz, Sonja ;
Reed, Xylena ;
Alcalay, Roy N. ;
Gan-Or, Zin ;
Rouleau, Guy A. ;
Krohn, Lynne ;
van Hilten, Jacobus J. ;
Marinus, Johan ;
Adarmes-Gómez, A.D ;
Aguilar Barberà, Miquel ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria ;
Barrero, Francisco Javier ;
Bergareche Yarza, Jesús Alberto ;
Bernal-Bernal, Inmaculada ;
Blázquez Estrada, Marta ;
Bonilla-Toribio, Marta ;
Botía, Juan A. ;
Boungiorno, María Teresa ;
Buiza-Rueda, Dolores ;
Carrillo, Fátima ;
Carrión-Claro, M ;
Cerdan, Debora ;
Clarimón, Jordi ;
Compta, Yaroslau ;
Diez-Fairen, Monica ;
Dols Icardo, Oriol ;
Duarte, Jacinto ;
Duran, Raquel ;
Escamilla Sevilla, Francisco ;
Ezquerra, Mario ;
Feliz, Cici ;
Fernández, Manel ;
Fernández-Santiago, Rubén ;
Garcia, Ciara ;
García-Ruiz, Pedro ;
Gómez-Garre, Pilar ;
Gomez Heredia, Maria Jose ;
Gonzalez-Aramburu, Isabel ;
Gorostidi Pagola, Ana ;
Hoenicka, Janet ;
Infante, Jon ;
Jesús, Silvia ;
Jiménez-Escrig, Adriano (Hospital General de Segovia) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A. ;
Lopez-Sendon, Jose Luis ;
López de Munain Arregui, Adolfo ;
Macias, Daniel ;
Martínez Torres, Irene ;
Marín, Juan ;
Marti, Maria Jose ;
Martínez-Castrillo, Juan Carlos ;
Méndez-del-Barrio, Carlota ;
Menéndez González, Manuel ;
Mata, Marina ;
Mínguez, Adolfo ;
Mir, Pablo ;
Mondragon Rezola, Elisabet ;
Muñoz, Esteban ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pastor, Pau ;
Perez Errazquin, Francisco ;
Periñán-Tocino, Teresa ;
Ruiz-Martínez, Javier ;
Ruz, Clara ;
Sanchez Rodriguez, Antonio ;
Sierra, María ;
Suarez-Sanmartin, Esther ;
Tabernero, Cesar ;
Tartari, Juan Pablo ;
Tejera-Parrado, Cristina ;
Tolosa, Eduard ;
Valldeoriola, Francesc ;
Vargas-González, Laura ;
Vela, Lydia ;
Vives, Francisco ;
Zimprich, Alexander ;
Pihlstrom, Lasse ;
Toft, Mathias ;
Koks, Sulev ;
Taba, Pille ;
Hassin-Baer, Sharon ;
Majamaa, Kari ;
Siitonen, Ari ;
Okubadejo, Njideka U. ;
Ojo, Oluwadamilola O. ;
Kaiyrzhanov, Rauan ;
Shashkin, Chingiz ;
Zharkynbekova, Nazira ;
Akhmetzhanov, Vadim ;
Aitkulova, Akbota ;
Zholdybayeva, Elena ;
Zharmukhanov, Zharkyn ;
Kaishybayeva, Gulnaz ;
Karimova, Altynay ;
Sadykova, Dinara ;
Iacoviello, Licia (University of Insubria (Itàlia)) ;
Gianfrancesco, F. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Acampora, D. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
D'Esposito, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Simeone, A. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Ciullo, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Esposito, T. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso")
Background: Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. [...]
2021 - 10.1186/s13024-021-00455-2
Molecular neurodegeneration, Vol. 16 Núm. 1 (december 2021) , p. 35
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14 p, 1.2 MB |
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome
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Storm, Catherine S. (University College London) ;
Kia, Demis A. (University College London) ;
Almramhi, Mona M. (King Abdulaziz University) ;
Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ;
Finan, Chris (University Medical Center Utrecht) ;
Noyce, A. J. (UCL Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, R. (UCL Institute of Neurology (Regne Unit)) ;
Middlehurst, B. (University of Liverpool) ;
Tan, M. (University College London) ;
Houlden, Henry (UCL Institute of Neurology (Regne Unit)) ;
Morris, H. R. (University College London) ;
Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit)) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Hardy, J. (UCL Institute of Neurology (Regne Unit)) ;
Trabzuni, D. (UCL Institute of Neurology (Regne Unit)) ;
Quinn, J. (Institute of Translational Medicine. University of Liverpool) ;
Bubb, Vivien (Institute of Translational Medicine. University of Liverpool) ;
Mok, K. Y. (UCL Institute of Neurology (Regne Unit)) ;
Kinghorn, K. J. (University College London) ;
Lewis, P. (University of Reading) ;
Schreglmann, S. R. (UCL Institute of Neurology (Regne Unit)) ;
Lovering, R. (University College London) ;
R'Bibo, L. (UCL Institute of Neurology (Regne Unit)) ;
Manzoni, C. (University of Reading) ;
Rizig, M. (UCL Institute of Neurology (Regne Unit)) ;
Ryten, Mina (UCL Institute of Neurology (Regne Unit)) ;
Guelfi, S. (UCL Institute of Neurology (Regne Unit)) ;
Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ;
Foltynie, T. (UCL Institute of Neurology (Regne Unit)) ;
Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics) ;
Morrison, K. E. (Faculty of Medicine. University of Southampton) ;
Clarke, C. (Sandwell and West Birmingham Hospitals NHS Trust) ;
Harvey, K. (UCL School of Pharmacy) ;
Jacobs, B. M. (Wolfson Institute of Preventive Medicine. QMUL) ;
Brice, Alexis (Sorbonne Université) ;
Danjou, Fabrice (Sorbonne Université) ;
Lesage, S. (Sorbonne Universités) ;
Corvol, Jean-Christophe (Sorbonne Universités) ;
Martinez, M. (Paul Sabatier University) ;
Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ;
Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ;
Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ;
Heutink, Peter (University of Tübingen) ;
Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ;
Sharma, M. (University of Tubingen) ;
Gasser, T. (DZNE. German Center for Neurodegenerative Diseases) ;
Schneider, S. A. (udwig-Maximilians-University Munich) ;
Cookson, Mark R (Laboratory of Neurogenetics. National Institute on Aging) ;
Blauwendraat, Cornelis (Laboratory of Neurogenetics. National Institute on Aging) ;
Craig, David W (University of Southern California) ;
Billingsley, K. (National Institute on Aging (Estats Units d'Amèrica)) ;
Makarious, M. B. (National Institute on Aging (Estats Units d'Amèrica)) ;
Narendra, D. P. (National Institute of Neurological Disorders and Stroke) ;
Faghri, F. (University of Illinois at Urbana-Champaign) ;
Gibbs, J. R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hernandez, D. G. (National Institute on Aging (Estats Units d'Amèrica)) ;
Van Keuren-Jensen, K. (Neurogenomics Division. TGen) ;
Shulman, J. M. (Texas Children's Hospital) ;
Iwaki, H. (Laboratory of Neurogenetics. National Institute on Aging) ;
Leonard, H. L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, M. A. (CEO/Consultant Data Tecnica International) ;
Robak, L. (Baylor College of Medicine) ;
Bras, Jose (Van Andel Research Institute) ;
Guerreiro, Rita (Van Andel Research Institute) ;
Lubbe, S. (Northwestern University Feinberg School of Medicine) ;
Troycoco, T. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ;
Mencacci, N. E. (Northwestern University Feinberg School of Medicine) ;
Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Singleton, A. B. (Laboratory of Neurogenetics. National Institute on Aging) ;
Scholz, S. W. (National Institute of Neurological Disorders and Stroke) ;
Reed, X. (Laboratory of Neurogenetics. National Institute on Aging) ;
Uitti, R. J. (Mayo Clinic) ;
Ross, O. A. (Mayo Clinic) ;
Grenn, F. P. (National Institute on Aging (Estats Units d'Amèrica)) ;
Moore, A. (National Institute on Aging (Estats Units d'Amèrica)) ;
Alcalay, Roy N (Columbia University Medical Center) ;
Wszolek, Z. K. (Mayo Clinic) ;
Gan-Or, Z. (McGill University) ;
Rouleau, G. A. (McGill University) ;
Krohn, L. (McGill University) ;
Mufti, K. (McGill University) ;
van Hilten, J. J. (Leiden University Medical Center) ;
Marinus, J. (Leiden University Medical Center) ;
Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aguilar Barberà, Miquel (Mútua de Terrassa) ;
Alvarez, Ignacio (Mútua de Terrassa) ;
Alvarez, Victoria (Hospital Universitario Central de Asturias) ;
Barrero, F. J. (Universidad de Granada) ;
Yarza, J. A. B. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, Marta (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Botía, J. A. (Universidad de Murcia) ;
Boungiorno, M. T. (Mútua de Terrassa) ;
Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cerdan, Debora (Hospital General de Segovia) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, M. (Mútua de Terrassa) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Duarte, Jacinto (Hospital General de Segovia) ;
Duran, Raquel (Universidad de Granada) ;
Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ;
Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ;
Garcia, C.. (Hospital Universitario Central de Asturias) ;
García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ;
Infante, Jon (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Jiménez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ;
de Munain Arregui, A. L. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Torres, I. M. (Hospital Universitari i Politècnic La Fe (València)) ;
Marín, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, Juan Carlos (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
González, M. M. (Hospital Universitario Central de Asturias) ;
Mata, Marina (Hospital Universitario Virgen de las Nieves (Granada)) ;
Mínguez, A. (Hospital Universitario Virgen de las Nieves (Granada)) ;
Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Rezola, E. M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, Esteban (Hospital Clínic i Provincial de Barcelona) ;
Pagonabarraga Mora, Javier (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Perez-Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Ruz, Clara (Universidad de Granada) ;
Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, Maria (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ;
Tabernero, Cesar (Hospital General de Segovia) ;
Tartari, J. P. (Mútua de Terrassa) ;
Tejera-Parrado, C. (v) ;
Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, Francisco (Universidad de Granada) ;
Zimprich, Alexander (Medical University of Vienna) ;
Pihlstrom, L. (Oslo University Hospital (Oslo)) ;
Toft, M. (Oslo University Hospital (Oslo, Noruega)) ;
Taba, P. (University of Tartu) ;
Koks, S. (The Perron Institute for Neurological and Translational Science) ;
Hassin-Baer, S. (Sackler Faculty of Medicine. Tel Aviv University) ;
Majamaa, K. (Oulu University Hospital (Finlàndia)) ;
Siitonen, A. (Oulu University Hospital (Finlàndia)) ;
Tienari, P. (Helsinki University Hospital (Finlàndia)) ;
Okubadejo, N. U. (University of Lagos) ;
Ojo, O. O. (University of Lagos) ;
Shashkin, C. (Kazakh National Medical University named after Asfendiyarov) ;
Zharkinbekova, N. (South Kazakhstan Medical Academy) ;
Akhmetzhanov, Vadim (Astana Medical University) ;
Kaishybayeva, G. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ;
Karimova, A. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ;
Khaibullin, T. (Semey Medical University) ;
Lynch, T. L. (The Dublin Neurological Institute at the Mater Misericordiae University Hospital) ;
Hingorani, Aroon (Health Data Research UK) ;
Wood, Nicholas W.. (University College London) ;
Universitat Autònoma de Barcelona
Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson's disease. [...]
2021 - 10.1038/s41467-021-26280-1
Nature communications, Vol. 12 Núm. 1 (december 2021) , p. 7342
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15 p, 570.6 KB |
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
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Costa, Beatrice ;
Manzoni, Claudia ;
Bernal-Quiros, Manuel ;
Kia, Demis A. ;
Aguilar Barberà, Miquel ;
Alvarez, Ignacio ;
Alvarez, Victoria ;
Andreassen, Ole A. ;
Anfossi, Maria ;
Bagnoli, Silvia ;
Benussi, Luisa ;
Bernardi, Livia ;
Binetti, Giuliano ;
Blackburn, Daniel ;
Boada, Mercè ;
Borroni, Barbara ;
Bowns, Lucy ;
Bråthen, Geir ;
Bruni, Amalia ;
Chiang, Huei-Hsin ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Colville, Shuna ;
Conidi, Maria E. ;
Cope, Tom E. ;
Cruchaga, Carlos ;
Cupidi, Chiara ;
Di Battista, Maria Elena ;
Diehl-Schmid, Janine ;
Diez-Fairen, Monica ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Durante, Elisabetta ;
Flisar, Dušan ;
Frangipane, Francesca ;
Galimberti, Daniela ;
Gallo, Maura ;
Gallucci, Maurizio ;
Ghidoni, Roberta ;
Graff, Caroline ;
Grafman, Jordan H. ;
Grossman, Murray ;
Hardy, John ;
Hernández, Isabel ;
Holloway, Guy J. T. ;
Huey, Edward D. ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Karydas, Anna ;
Khoshnood, Behzad ;
Kramberger, Milica G. ;
Kristiansen, Mark ;
Lewis, Patrick ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Madhan, Gaganjit K. ;
Maletta, Raffaele ;
Maver, Aleš ;
Menendez-Gonzalez, Manuel ;
Milan, Graziella ;
Miller, Bruce L. ;
Mol, Merel O. ;
Momeni, Parastoo ;
Moreno-Grau, Sonia ;
Morris, Chris M. ;
Nacmias, Benedetta ;
Nilsson, Christer ;
Novelli, Valeria ;
Öijerstedt, Linn ;
Padovani, Alessandro ;
Pal, Suvankar ;
Panchbhaya, Yasmin ;
Pastor, Pau ;
Peterlin, Borut ;
Piaceri, Irene ;
Pickering-Brown, S. ;
Pijnenburg, Yolande ;
Puca, Annibale A. ;
Rainero, Innocenzo ;
Rendina, Antonella ;
Richardson, Anna M. T. ;
Rogaeva, Ekaterina ;
Rogelj, Boris ;
Rollinson, Sara ;
Rossi, Giacomina ;
Rossmeier, Carola ;
Rowe, James B. ;
Rubino, Elisa ;
Ruiz, Agustín ;
Sanchez-Valle, Raquel ;
Sando, Sigrid B. ;
Santillo, Alexander F. ;
Saxon, Jennifer ;
Scarpini, Elio ;
Serpente, Maria ;
Smirne, Nicoletta ;
Sorbi, Sandro ;
Suh, EunRan ;
Tagliavini, Fabrizio ;
Thompson, Jennifer C. ;
Trojanowski, John Q. ;
Van Deerlin, Vivianna M. ;
Van der Zee, Julie ;
Van Broeckhoven, Christine ;
van Rooij, Jeroen ;
Van Swieten, John C. ;
Veronesi, Arianna ;
Vitale, Emilia ;
Waldö, Maria L. ;
Woodward, Cathy ;
Yokoyama, Jennifer ;
Escott-Price, Valentina ;
Polke, James M. ;
Ferrari, Raffaele ;
Universitat Autònoma de Barcelona
We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. [...]
2020 - 10.1212/WNL.0000000000010914
Neurology, Vol. 95 (december 2020) , p. e3288-e3302
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13 p, 722.8 KB |
A C6orf10 / LOC101929163 locus is associated with age of onset in C9orf72 carriers
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Zhang, Ming (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Ferrari, Raffaele (University College London. Institute of Neurology) ;
Tartaglia, Maria Carmela (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada) ;
Keith, Julia (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
Surace, Ezequiel I (Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (Buenos Aires, Argentina)) ;
Wolf, Uri (University of Toronto. Department of Psychiatry) ;
Sato, Christine (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Grinberg, Mark (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Liang, Yan (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Xi, Zhengrui (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Dupont, Kyle (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
McGoldrick, Philip (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Weichert, Anna (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
McKeever, Paul M. (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Schneider, Raphael (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
McCorkindale, Michael D. (University College London. Institute of Neurology) ;
Manzoni, Claudia (School of Pharmacy, University of Reading, Whiteknights, Reading, UK) ;
Rademakers, Rosa (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ;
Graff-Radford, Neill R. (Department of Neurology, Mayo Clinic, Jacksonville, FL, USA) ;
Dickson, Dennis W. (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ;
Parisi, Joseph E. (Department of Laboratory Medicine and Pathology and Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Boeve, Bradley (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Petersen, Ronald C. (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Miller, Bruce L. (Department of Neurology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ;
Seeley, William W. (Department of Neurology and Department of Pathology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ;
van Swieten, John C. (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ;
van Rooij, Jeroen (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ;
Pijnenburg, Yolande (Amsterdam UMC. University Medical Center) ;
van der Zee, Julie (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Le Ber, Isabelle (Reference Center for Rare and Young Dementias, Institute of Memory and Alzheimer's Disease (IM2A), Department of Neurology, Hopital Pitié-Salpêtrière, Paris, France) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Suh, EunRan (University of Pennsylvania) ;
Rohrer, Jonathan D. (University College London. Institute of Neurology) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Öijerstedt, Linn (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pickering-Brown, S. (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ;
Rollinson, Sara (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ;
Rossi, Giacomina (Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ;
Tagliavini, Fabrizio (Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ;
Brooks, William S. (Neuroscience Research Australia and Prince of Wales Clinical School, University of New South Wales, Sydney, Australia) ;
Dobson-Stone, Carol (School of Medical Sciences, University of New South Wales, Sydney, Australia) ;
Halliday, Glenda M. (University of Sydney. Brain and Mind Centre) ;
Hodges, John R. (Australian Research Council Centre of Excellence in Cognition and its Disorders, Sydney, Australia) ;
Piguet, Olivier (School of Psychology and Brain and Mind Centre, University of Sydney, Sydney, Australia) ;
Binetti, Giuliano (MAC Memory Center, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Nacmias, Benedetta (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy) ;
Sorbi, Sandro (IRCCS Don Gnocchi, Florence, Italy) ;
Bruni, Amalia (Regional Neurogenetic Centre, Lamezia Terme, Azienda Sanitaria Provinciale Catanzaro, Italy) ;
Galimberti, Daniela (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Scarpini, Elio (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Rainero, Innocenzo (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ;
Rubino, Elisa (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Ruiz, Agustin (Institut Català de Neurociènces Aplicades) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Pastor, Pau (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ;
Diez-Fairen, Monica (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ;
Borroni, Barbara (Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy) ;
Pasquier, Florence (Centre Hospitalier Régional Universitaire de Lille) ;
Deramecourt, Vincent (Centre Hospitalier Régional Universitaire de Lille) ;
Lebouvier, Thibaud (Centre Hospitalier Régional Universitaire de Lille) ;
Perneczky, Robert (Imperial College London. School of Public Health) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Grafman, Jordan (Weinberg College of Arts and Sciences Northwestern University (Chicago, Estats Units d'Amèrica)) ;
Huey, Edward D. (The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (Columbia, Estats Units d'Amèrica)) ;
Mayeux, Richard (The Gertrude H. Sergievsky Center, The Departments of Neurology, Psychiatry, Epidemiology, School of Public Health, Columbia University, New York, NY, USA) ;
Nalls, Michael A.. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hernandez, Dena (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Singleton, Andrew B (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Momeni, Parastoo (Rona Holdings, Silicon Valley, CA, USA) ;
Zeng, Zhen (Merck & Co., Inc, Kenilworth, NJ, USA) ;
Hardy, John (University College London. Institute of Neurology) ;
Robertson, Janice (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Zinman, Lorne (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
Rogaeva, Ekaterina (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada)
Discovery of disease age-of-onset modifiers is important for clinical trials and drug design. Zhang et al. perform a genome-wide analysis of epigenetic functional polymorphisms and identify an association between the C6orf10/LOC101929163 locus and age of FTD/ALS onset. [...]
2018 - 10.1093/brain/awy238
Brain, Vol. 141 (september 2018) , p. 2895-2907
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6.
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10 p, 1.3 MB |
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
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Bonham, Luke W. (University of California, San Francisco (UCSF)) ;
Steele, Natasha Z. R. (University of California, San Francisco (UCSF)) ;
Karch, Celeste M. (Department of Psychiatry. Washington University) ;
Broce, Iris (University of California, San Francisco (UCSF)) ;
Geier, Ethan G. (University of California, San Francisco (UCSF)) ;
Wen, Natalie L. (Department of Psychiatry. Washington University) ;
Momeni, Parastoo (Texas Tech University Health Science Center. Laboratory of Neurogenetics) ;
Hardy, John (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Miller, Zachary A. (University of California, San Francisco (UCSF)) ;
Gorno-Tempini, Maria Luisa (University of California, San Francisco (UCSF)) ;
Hess, Christopher P. (University of California, San Francisco (UCSF)) ;
Lewis, Patrick (School of Pharmacy. University of Reading. Whiteknights) ;
Miller, Bruce L. (University of California, San Francisco (UCSF)) ;
Seeley, William W. (University of California, San Francisco (UCSF)) ;
Manzoni, Claudia (School of Pharmacy. University of Reading. Whiteknights) ;
Desikan, Rahul S. (University of California, San Francisco (UCSF)) ;
Baranzini, Sergio E. (University of California, San Francisco (UCSF)) ;
Ferrari, Raffaele (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Yokoyama, Jennifer S. (University of California, San Francisco (UCSF)) ;
Hernandez, D. G. (UCL Institute of Neurology (Regne Unit)) ;
Nalls, M. A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Rohrer, J. D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Ramasamy, Adaikalavan (The Jenner Institute. University of Oxford) ;
Kwok, J. B. J. (School of Medical Sciences. University of New South Wales) ;
Dobson-Stone, Carol (School of Medical Sciences. University of New South Wales) ;
Schofield, P. R. (School of Medical Sciences. University of New South Wales) ;
Halliday, G. M. (School of Medical Sciences. University of New South Wales) ;
Hodges, J. R. (School of Medical Sciences. University of New South Wales) ;
Piguet, O. (School of Medical Sciences. University of New South Wales) ;
Bartley, Lauren (School of Medical Sciences. University of New South Wales) ;
Thompson, E. (Department of Paediatrics. University of Adelaide) ;
Haan, E. (Department of Paediatrics. University of Adelaide) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Ruiz, A. (Institut Català de Neurociènces Aplicades) ;
Boada, Mercè (Institut Català de Neurociènces Aplicades) ;
Borroni, Barbara (Neurology Clinic. University of Brescia) ;
Padovani, Alessandro (Neurology Clinic. University of Brescia) ;
Cruchaga, Carlos (Hope Center. Washington University School of Medicine) ;
Cairns, Nigel J (Department of Pathology and Immunology. Washington University) ;
Benussi, Luisa (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (MAC Memory Clinic. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, R. (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Forloni, G. (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ;
Albani, Diego (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ;
Galimberti, Daniela (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ;
Fenoglio, Chiara (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ;
Serpente, M. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ;
Scarpini, E. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Blesa, Rafael (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Landqvist Waldö, M. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ;
Nilsson, K. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ;
Nilsson, C. (Clinical Memory Research Unit. Department of Clinical Sciences. Lund University) ;
Mackenzie, I. R. A. (Department of Pathology and Laboratory Medicine. University of British Columbia) ;
Hsiung, G. Y. R. (Division of Neurology. University of British Columbia) ;
Mann, D. M. A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Grafman, J. (Department of Psychology. Weinberg College of Arts and Sciences. Northwestern University) ;
Morris, C. M. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Attems, Johannes (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Griffiths, T. D. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
McKeith, I. G. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Thomas, A. J. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Pietrini, P. (IMT School for Advanced Studies. Lucca) ;
Huey, Edward D (Taub Institute. Departments of Psychiatry and Neurology. Columbia University) ;
Wassermann, E. M. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ;
Baborie, A. (Department of Laboratory Medicine & Pathology. University of Alberta Edmonton) ;
Jaros, E. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ;
Tierney, M. C. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Razquin, C. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ;
Ortega-Cubero, S. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ;
Alonso, E. (Clínica Universidad de Navarra) ;
Perneczky, Robert (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Diehl-Schmid, Janine (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Alexopoulos, Panagiotis (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Kurz, A. (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Rainero, Innocenzo (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ;
Rubino, E. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ;
Pinessi, L. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ;
Rogaeva, Ekaterina (University of Toronto. Tanz Centre for Research in Neurodegenerative Diseases) ;
St George Hyslop, Peter (Cambridge Institute for Medical Research) ;
Rossi, G. (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Rowe, J. B. (Behavioural and Clinical Neuroscience Institute) ;
Schlachetzki, J. C. M. (University of California San Diego. Department of Cellular & Molecular Medicine) ;
Uphill, J. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ;
Collinge, John (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ;
Mead, S. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ;
Danek, Adrian (Ludwig-Maximilians-Universität München) ;
Van Deerlin, V. M. (University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (Department of Neurology and Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ;
Trojanowski, J. Q. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ;
Van der Zee, Julie (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ;
Cruts, Marc (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ;
Van Broeckhoven, C. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ;
Cappa, S. F. (Neurorehabilitation Unit. Department of Clinical Neuroscience. Vita-Salute University and San Raffaele Scientific Institute) ;
Leber, Isabelle (CNRS UMR 7225. F-75013) ;
Hannequin, D. (Service de Neurologie. Inserm U1079. CNR-MAJ. Rouen University Hospital) ;
Golfier, V. (Service de Neurologie. CH Saint Brieuc) ;
Vercelletto, M. (Service de neurologie. CHU de Nantes) ;
Brice, Alexis (CNRS UMR 7225. F-75013) ;
Nacmias, Benedetta (University of Florence. Department of Neurosciences) ;
Sorbi, Sandro (University of Florence. Department of Neurosciences) ;
Bagnoli, Silvia (University of Florence. Department of Neurosciences) ;
Piaceri, I. (University of Florence. Department of Neurosciences) ;
Nielsen, J. E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ;
Hjermind, L. E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ;
Riemenschneider, M. (Laboratory for Neurogenetics. Saarland University) ;
Mayhaus, M. (Laboratory for Neurogenetics. Saarland University) ;
Ibach, B. (Department of Psychiatry. Psychotherapy and Psychosomatics) ;
Gasparoni, G. (Laboratory for Neurogenetics. Saarland University) ;
Pichler, S. (Laboratory for Neurogenetics. Saarland University) ;
Gu, W. (Luxembourg Centre For Systems Biomedicine (LCSB). University of Luxembourg) ;
Rossor, M. N. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Fox, N. C. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Warren, J. D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Spillantini, M. G. (University of Cambridge. Department of Clinical Neurosciences) ;
Morris, H. R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Rizzu, P. (Tübingen Site. German Center for Neurodegenerative Diseases) ;
Heutink, Peter (Tübingen Site. German Center for Neurodegenerative Diseases) ;
Snowden, J. S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Rollinson, Sara (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Richardson, A. (Salford Royal Foundation Trust. Faculty of Medical and Human Sciences. University of Manchester) ;
Gerhard, A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Bruni, A. C. (Regional Neurogenetic Centre. ASPCZ) ;
Maletta, Raffaele (Regional Neurogenetic Centre. ASPCZ) ;
Frangipane, F. (Regional Neurogenetic Centre. ASPCZ) ;
Cupidi, C. (Regional Neurogenetic Centre. ASPCZ) ;
Bernardi, Livia (Regional Neurogenetic Centre. ASPCZ) ;
Anfossi, Maria (Regional Neurogenetic Centre. ASPCZ) ;
Gallo, M. (Regional Neurogenetic Centre. ASPCZ) ;
Conidi, Maria E. (Regional Neurogenetic Centre. ASPCZ) ;
Smirne, N. (Regional Neurogenetic Centre. ASPCZ) ;
Rademakers, Rosa (Department of Neuroscience. Mayo Clinic Jacksonville) ;
Baker, M. (Department of Neuroscience. Mayo Clinic Jacksonville) ;
Dickson, Dennis W. (Department of Neuroscience. Mayo Clinic Jacksonville) ;
Graff-Radford, N. R. (Department of Neuroscience. Mayo Clinic Jacksonville) ;
Petersen, R. C. (Department of Neurology. Mayo Clinic Rochester) ;
Knopman, D. (Department of Neurology. Mayo Clinic Rochester) ;
Josephs, K. A. (Department of Neurology. Mayo Clinic Rochester) ;
Boeve, Bradley (Department of Neurology. Mayo Clinic Rochester) ;
Parisi, J. E. (Department of Pathology. Mayo Clinic Rochester) ;
Karydas, A. M. (University of California, San Francisco (UCSF)) ;
Rosen, H. (University of California, San Francisco (UCSF)) ;
van Swieten, J. C. (Department of Medical Genetics. VU university Medical Centre) ;
Dopper, E. G. P. (Department of Medical Genetics. VU university Medical Centre) ;
Seelaar, H. (Department of Medical Genetics. VU university Medical Centre) ;
Pijnenburg, Y. A. L. (VU University Medical Centre. Department of Neurology) ;
Scheltens, Philip (VU University Medical Centre. Department of Neurology) ;
Logroscino, Giancarlo (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ;
Capozzo, Rosa (University of Bari) ;
Novelli, V. (Medical Genetics Unit. Fondazione Policlinico Universitario A. Gemelli) ;
Puca, A. A. (Department of Medicine and Surgery. University of Salerno) ;
Franceschi, M. (Neurology Department. IRCCS Multimedica) ;
Postiglione, A. (Department of Clinical Medicine and Surgery. University of Naples Federico II) ;
Milan, G. (Geriatric Center Frullone ASL Napoli 1 Centro) ;
Sorrentino, P. (Geriatric Center Frullone ASL Napoli 1 Centro) ;
Kristiansen, M. (UCL Genomics. Institute of Child Health (ICH). UCL) ;
Chiang, H. H. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Graff, C. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pasquier, Florence (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Rollin, A. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Deramecourt, Vincent (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Lebouvier, Thibaud (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Kapogiannis, D. (National Institute on Aging (NIA/NIH)) ;
Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ;
Pickering-Brown, S. (University of Manchester) ;
Singleton, Andrew B (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Universitat Autònoma de Barcelona
The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). [...]
2019 - 10.1038/s41598-019-46415-1
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 10854
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