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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, Z. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Zhang, D. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Reynolds, R.H. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Gustavsson, E.K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
García-Ruiz, S. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
D'Sa, K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Fairbrother-Browne, A. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Vandrovcova, J. (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ;
Noyce, A.J. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Kaiyrzhanov, R. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Middlehurst, B. (Institute of Translational Medicine. University of Liverpool) ;
Kia, D.A. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Tan, M. (Department of Clinical and Movement Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Morris, H.R. (Department of Clinical and Movement Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Plun-Favreau, H. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Holmans, P. (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Trabzuni, D. (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ;
Bras, J. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Quinn, J. (Institute of Translational Medicine. University of Liverpool) ;
Mok, K.Y. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Kinghorn, K.J. (Institute of Healthy Ageing. University College London (UCL)) ;
Billingsley, K. (Institute of Translational Medicine. University of Liverpool) ;
Wood, N.W. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Lewis, P. (University of Reading) ;
Schreglmann, S. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Guerreiro, Rita (UK Dementia Research Institute. University College London (UCL)) ;
Lovering, R. (Institute of Cardiovascular Science. University College London (UCL)) ;
R'Bibo, L. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Manzoni, C. (University of Reading) ;
Rizig, M. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Guelfi, S. (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ;
Escott-Price, V. (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Chelban, V. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Foltynie, T. (Department of Clinical and Movement Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Brice, A. (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Danjou, F. (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Lesage, S. (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Corvol, Jean-Christophe (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Martinez, M. (INSERM UMR 1220 and Paul Sabatier University) ;
Schulte, C. (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Brockmann, K. (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Simón-Sánchez, J. (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Heutink, P. (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Rizzu, P. (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Sharma, M. (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ;
Gasser, T. (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Nicolas, A. (Laboratory of Neurogenetics. National Institute on Aging) ;
Cookson, M.R. (Laboratory of Neurogenetics. National Institute on Aging) ;
Bandres-Ciga, S. (Laboratory of Neurogenetics. National Institute on Aging) ;
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, F. (Department of Computer Science. University of Illinois at Urbana-Champaign) ;
Gibbs, J.R. (Laboratory of Neurogenetics. National Institute on Aging) ;
Hernandez, D.G. (Laboratory of Neurogenetics. National Institute on Aging) ;
Van Keuren-Jensen, K. (Neurogenomics Division. TGen) ;
Shulman, J.M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Leonard, H.L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, M.A. (Data Tecnica International) ;
Robak, L. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Lubbe, S. (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ;
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. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ;
Reed, X. (Laboratory of Neurogenetics. National Institute on Aging) ;
Alcalay, R.N. (Taub Institute for Research on Alzheimer's Disease and the Aging Brain. College of Physicians and Surgeons. Columbia University Medical Center) ;
Gan-Or, Z. (Montreal Neurological Institute and Hospital. Department of Neurology & Neurosurgery. Department of Human Genetics. McGill University) ;
Rouleau, G.A. (Montreal Neurological Institute and Hospital. Department of Neurology & Neurosurgery. Department of Human Genetics. McGill University) ;
Krohn, L. (Montreal Neurological Institute and Hospital. Department of Neurology & Neurosurgery. Department of Human Genetics. McGill University) ;
van Hilten, J.J. (Department of Neurology. Leiden University Medical Center) ;
Marinus, J. (Department of Neurology. Leiden University Medical Center) ;
Adarmes-Gómez, A.D. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Aguilar, M. (Fundació Docència I Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, V. (Hospital Universitario Central de Asturias) ;
Barrero, F. J (Hospital Universitario San Cecilio de Granada. Universidad de Granada) ;
Yarza, J.A.B. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, I. (Hospital Clínic i Provincial de Barcelona) ;
Blazquez, M. (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, M. (Hospital Clínic i Provincial de Barcelona) ;
Botía, J. (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Boungiorno, M.T. (Fundació Docència I Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Cámara, A. (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, F. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Carrión-Claro, M. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Cerdan, D. (Hospital General de Segovia) ;
Clarimón, J. (Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, M. (Fundació Docència I Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Duarte, J. (Hospital General de Segovia) ;
Duran, R. (Centro de Investigacion Biomedica. Universidad de Granada) ;
Escamilla-Sevilla, F. (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, M. (Hospital Clínic i Provincial de Barcelona) ;
Feliz, C. (Hospital Universitario Marqués de Valdecilla-IDIVALS. Instituto de Investigación Sanitaria Fundación Jiménez Díaz) ;
Fernández, M. (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, R. (Hospital Clínic i Provincial de Barcelona) ;
Garcia, C. (Hospital Universitario Central de Asturias) ;
García-Ruiz, P. (Hospital Universitario Marqués de Valdecilla-IDIVALS. Instituto de Investigación Sanitaria Fundación Jiménez Díaz) ;
Gómez-Garre, P. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Heredia, M.J.G. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, I. (Instituto de Investigación Sanitaria Valdecilla (Santander, País Basc)) ;
Pagola, A.G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, J. (Institut de Recerca Sant Joan de Déu) ;
Infante, J. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Jesús, S. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Jimenez-Escrig, A. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, M.A. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Lopez-Sendon, J.L. (Hospital Universitario Ramón y Cajal (Madrid)) ;
de Munain Arregui, A.L. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macias, D. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Torres, I.M. (Hospital Universitari i Politècnic La Fe de Valencia) ;
Marín, J. (Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas) ;
Marti, M.J. (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, J.C. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Méndez-del-Barrio, C. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
González, M.M. (Hospital Universitario Central de Asturias) ;
Mata, M. (Department of Neurology. Hospital Universitario Infanta Sofía) ;
Mínguez, A. (Instituto de Investigación Sanitaria de Granada) ;
Mir, P. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Rezola, E.M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, E. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pastor, P. (Fundació Docència I Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Errazquin, F.P. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, T. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Ruiz-Martínez, J. (Hospital Universitario Donostia. Instituto de Investigación Sanitaria Biodonostia) ;
Ruz, C. (Centro de Investigacion Biomedica. Universidad de Granada) ;
Rodriguez, A.S. (Instituto de Investigación Sanitaria Valdecilla (Santander, País Basc)) ;
Sierra, M. (Instituto de Investigación Sanitaria Valdecilla (Santander, País Basc)) ;
Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ;
Tabernero, C. (Hospital General de Segovia) ;
Tartari, J. P. (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Tejera-Parrado, C. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Tolosa, E. (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, F. (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, L. (Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla) ;
Vela, L. (Hospital Universitario Fundación Alcorcón) ;
Vives, F. (Centro de Investigacion Biomedica. Universidad de Granada) ;
Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ;
Pihlstrom, L. (Oslo University Hospital (Oslo, Noruega)) ;
Toft, M. (Oslo University Hospital (Oslo, Noruega)) ;
Koks, S. (Department of Reproductive Biology. Estonian University of Life Sciences) ;
Taba, P. (Department of Neurology and Neurosurgery. University of Tartu) ;
Hassin-Baer, S. (Sackler Faculty of Medicine. Tel Aviv University) ;
Hardy, J. (Institute for Advanced Study. The Hong Kong University of Science and Technology. The Hong Kong University of Science and Technology) ;
Houlden, H. (Department of Neuromuscular Disease. Queen Square Institute of Neurology. UCL) ;
Gagliano Taliun, S. A. (Montréal Heart Institute) ;
Botía, J. (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Ryten, M. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
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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Non-motor predictors of 36-month quality of life after subthalamic stimulation in Parkinson disease
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Jost, Stefanie Theresa (University of Cologne. Faculty of Medicine and University Hospital Cologne. Department of Neurology) ;
Visser-Vandewalle, Veerle (University of Cologne. Faculty of Medicine and University Hospital Cologne. Department of Stereotaxy and Functional Neurosurgery) ;
Rizos, Alexandra Marianne (Parkinson Foundation International Centre of Excellence. King's College Hospital) ;
Loehrer, Philipp Alexander (Department of Neurology. University Hospital Giessen and Marburg. Campus Marburg) ;
Silverdale, Monty (Department of Neurology and Neurosurgery. Salford Royal NHS Foundation Trust. Manchester Academic Health Science Centre. University of Manchester) ;
Evans, Julian (Department of Neurology and Neurosurgery. Salford Royal NHS Foundation Trust. Manchester Academic Health Science Centre. University of Manchester) ;
Samuel, Michael (Parkinson Foundation International Centre of Excellence. King's College Hospital) ;
Petry-Schmelzer, Jan Niklas (University of Cologne. Faculty of Medicine and University Hospital Cologne. Department of Neurology) ;
Sauerbier, Anna (Institute of Psychiatry. Psychology and Neuroscience. King's College London) ;
Gronostay, Alexandra (University of Cologne. Faculty of Medicine and University Hospital Cologne. Department of Neurology) ;
Barbe, Michael T. (University of Cologne. Faculty of Medicine and University Hospital Cologne. Department of Neurology) ;
Fink, Gereon R. (Cognitive Neuroscience. Institute of Neuroscience and Medicine (INM-3). Research Centre Jülich) ;
Ashkan, Keyoumars (Parkinson Foundation International Centre of Excellence. King's College Hospital) ;
Antonini, Angelo (Padova University. Department of Neurosciences (DNS)) ;
Martinez-Martin, Pablo (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Chaudhuri, Kallol Ray (King's College London. Institute of Psychiatry. Psychology and Neuroscience) ;
Timmermann, Lars (University Hospital Giessen and Marburg) ;
Dafsari, Haidar S. (University of Cologne. Faculty of Medicine and University Hospital Cologne. Department of Neurology) ;
Bhidayasiri, Roongroj (Chulalongkorn Centre of Excellence for Parkinson's Disease & Related Disorders. Department of Medicine. Faculty of Medicine. Chulalongkorn University and King Chulalongkorn Memorial Hospital. Thai Red Cross Society) ;
Falup-Pecurariu, Cristian (Faculty of Medicine. Transilvania University of Brașov) ;
Jeon, Beomseok (Department of Neurology. Seoul National University College of Medicine) ;
Leta, Valentina (King's College London. Institute of Psychiatry. Psychology & Neuroscience) ;
Borghammer, Per (Nuclear Medicine and PET. Aarhus University Hospital) ;
Odin, Per (University of Lund. Faculty of Medicine) ;
Schrag, Anette (UCL Institute of Neurology (Regne Unit)) ;
Storch, Alexander (German Center for Neurodegenerative Diseases (DZNE). Research Site Dresden) ;
Rodríguez-Violante, Mayela (Movement Disorders Clinic. National Institute of Neurology and Neurosurgery) ;
Weintraub, Daniel (Parkinson's Disease and Mental Illness Research. Education and Clinical Centers. Philadelphia Veterans Affairs Medical Center) ;
Adler, Charles (The Parkinson's Disease and Movement Disorders Center. Department of Neurology. Mayo Clinic) ;
Barone, Paolo (Center for Neurodegenerative Diseases (CEMAND). Neuroscience Section. University of Salerno) ;
Brooks, David J. (Department of Nuclear Medicine and PET Centre. Aarhus University Hospital) ;
Brown, Richard (Department of Medicine. University of Birmingham Institute of Cardiovascular Sciences. City Hospital) ;
Cantillon, Marc (Reviva Pharmaceuticals. Inc) ;
Carroll, Camille (Faculty of Medicine and Dentistry. University of Plymouth) ;
Coelho, Miguel (FAS Center for Systems Biology. Harvard University) ;
Henriksen, Tove (Movement Disorder Clinic. University Hospital of Bispebjerg) ;
Hu, Michele (Nuffield Department of Clinical Neurosciences. University of Oxford) ;
Jenner, Peter (Neurodegenerative Diseases Research Group. Institute of Pharmaceutical Sciences. Faculty of Life Sciences and Medicine. King's College London) ;
Kramberger, Milica (Department of Neurology. University Medical Centre Ljubljana) ;
Kumar, Padma (Parkinson's Disease Service for the Older Person. Rankin Park Centre. John Hunter Hospital. HNELHD) ;
Kurtis, Monica M. (Functional Movement Disorders Unit. Movement Disorders Program. Neurology Department. Hospital Ruber Internacional) ;
Lewis, Simon (Brain and Mind Centre. University of Sydney) ;
Litvan, Irene (Department of Neurosciences Movement Disorders Center. University of California) ;
Lyons, Kelly (University of Kansas Medical Center) ;
Martino, Davide (Department of Clinical Neurosciences. University of Calgary & Hotchkiss Brain Institute) ;
Masellis, Mario (Hurvitz Brain Sciences Program. Sunnybrook Research Institute) ;
Mochizuki, Hideki (Department of Neurology. Osaka University Graduate School of Medicine) ;
Morley, James F. (Department of Neurology. University of Pennsylvania) ;
Nirenberg, Melissa (Department of Neurology. NYU School of Medicine) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Panicker, Jalesh (Neurology. National Hospital for Neurology & Neurosurgery) ;
Pavese, Nicola (Newcastle Magnetic Resonance Centre & Positron Emission Tomography Centre. Newcastle University. Campus for Ageing & Vitality) ;
Pekkonen, Eero (Department of Neurology. Helsinki University Hospital. and Department of Neurological Sciences (Neurology). University of Helsinki) ;
Postuma, Ron (Research Institute of McGill University Health Centre) ;
Rosales, Raimon L. (Center for Neurodiagnostic and Therapeutic Services. Metropolitan Medical Center) ;
Schapira, Anthony (Department of Clinical Neurosciences. University College London (UCL) Institute of Neurology. Royal Free Campus. Rowland Hill Street) ;
Simuni, Tanya (Department of Neurology. Northwestern University. Feinberg School of Medicine) ;
Stocchi, Fabrizio (University and Institute for Research and Medical Care. IRCCS San Raffaele) ;
Subramanian, Indu (UCLA/West LA VA) ;
Tagliati, Michele (Cedars-Sinai Medical Center) ;
Tinazzi, Michele (Department of Neuroscience. Biomedicine. and Movement. University of Verona) ;
Toledo, Jon (Department of Neurology. Houston Methodist Hospital) ;
Tsuboi, Yoshio (Department of Neurology. Fukuoka University) ;
Walker, Richard (Northumbria Healthcare NHS Foundation Trust. North Tyneside General Hospital. Rake Lane)
To identify predictors of 36-month follow-up quality of life (QoL) outcome after bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD). In this ongoing, prospective, multicenter international study (Cologne, Manchester, London) including 73 patients undergoing STN-DBS, we assessed the following scales preoperatively and at 6-month and 36-month follow-up: PD Questionnaire-8 (PDQ-8), NMSScale (NMSS), Scales for Outcomes in PD (SCOPA)-motor examination, -activities of daily living, and -complications, and levodopa equivalent daily dose (LEDD). [...]
2021 - 10.1038/s41531-021-00174-x
NPJ Parkinson's disease, Vol. 7 Núm. 1 (december 2021) , p. 48
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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, Maria ;
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 W. ;
Reed, Xylena ;
Alcalay, Roy N. ;
Gan-Or, Zin ;
Rouleau, Guy A. ;
Krohn, Lynne ;
van Hilten, Jacobus J. ;
Marinus, Johan ;
Adarmes-Gómez, Astrid D. ;
Aguilar, Miquel ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria ;
Barrero, Francisco Javier ;
Bergareche Yarza, Jesús Alberto ;
Bernal-Bernal, Inmaculada ;
Blazquez, Marta ;
Bonilla-Toribio, Marta ;
Botía, Juan A. ;
Boungiorno, María Teresa ;
Buiza-Rueda, Dolores ;
Carrillo, Fátima ;
Carrión-Claro, Mario ;
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 ;
Jimenez-Escrig, Adriano ;
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 (Research Center in Epidemiology and Preventive Medicine (EPIMED). Department of Medicine and Surgery. University of Insubria) ;
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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18 p, 1.9 MB |
Present and future of parkinson's disease in Spain : Parkinson-2030 delphi project
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Santos García, D. (Department of Neurology. CHUAC (Complexo Universitario de A Coruña)) ;
Blázquez-Estrada, M. (Hospital Universitario Central de Asturias) ;
Calopa, Matilde (Hospital Universitari de Bellvitge) ;
Escamilla-Sevilla, F. (Unidad de Trastornos del Movimiento. Servicio de Neurología. Hospital Universitario Virgen de las Nieves. Instituto de Investigación Biosanitaria ibs. Granada) ;
Freire, E. (Departamento de Neurología. Hospital IMED Elche) ;
García Ruiz, P.J. (Servicio de Neurología. Fundación Jiménez Díaz) ;
Grandas, F. (Servicio de Neurología. Hospital Gregorio Marañón) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
López-Manzanares, L. (Servicio de Neurología. Hospital de la Princesa) ;
Martínez Castrillo, J.C. (Servicio de Neurología. IRYCIS. Hospital Universitario Ramón y Cajal) ;
Mir, P. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pérez-Errazquin, F. (Servicio de Neurología. Hospital Virgen de la Victoria) ;
Salom, J. (Hospital Clínic Universitari (València)) ;
Tijero, B. (Servicio de Neurología. Hospital Cruces) ;
Valldeoriola, F. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Yáñez, R. (Servicio de Neurología. Complejo Hospitalario Univ. Ourense) ;
Avilés, A. (Departamento Médico. Zambon S.A.U) ;
Luquín, M.R. (Instituto de Investigación Sanitaria de Navarra) ;
Universitat Autònoma de Barcelona
Parkinson's disease (PD) is a chronic progressive and irreversible disease and the second most common neurodegenerative disease worldwide. In Spain, it affects around 120. 000-150. 000 individuals, and its prevalence is estimated to increase in the future. [...]
2021 - 10.3390/brainsci11081027
Brain sciences, Vol. 11 Núm. 8 (august 2021) , p. 1027
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6 p, 711.9 KB |
The role of glutamatergic neurotransmission in the motor and non-motor symptoms in Parkinson's disease : Clinical cases and a review of the literature
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Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Tinazzi, M. (Neurology Unit. Department of Neuroscience. Biomedicine and Movement. University of Verona) ;
Caccia, C. (CNS Preclinical Pharmacology. Independent Advisor) ;
Jost, W.H. (Parkinson-Klinik Ortenau)
Glutamate is the major excitatory neurotransmitter in the central nervous system and, as such, many brain regions, including the basal ganglia, are rich in glutamatergic neurons. The importance of the basal ganglia in the control of voluntary movement has long been recognised, with the effect of dysfunction of the region exemplified by the motor symptoms seen in Parkinson's disease (PD). [...]
2021 - 10.1016/j.jocn.2021.05.056
Journal of Clinical Neuroscience, Vol. 90 (august 2021) , p. 178-183
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6.
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16 p, 1.8 MB |
Neural signatures of predictive language processing in Parkinson's disease with and without mild cognitive impairment
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León-Cabrera, P. (Institut d'Investigació Biomèdica de Bellvitge) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Morís, J. (Department of Educational and Evolutive Psychology. University of Granada) ;
Martinez-Horta, Saul (Institut d'Investigació Biomèdica Sant Pau) ;
Marín-Lahoz, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Horta, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Bejr-Kasem Marco, Helena (Institut d'Investigació Biomèdica Sant Pau) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Rodríguez-Fornells, A. (Institució Catalana de Recerca i Estudis Avançats) ;
Universitat Autònoma de Barcelona
Cognitive deficits are common in Parkinson's disease (PD), with some PD patients meeting criteria for mild cognitive impairment (MCI). An unaddressed question is whether linguistic prediction is preserved in PD. [...]
2021 - 10.1016/j.cortex.2021.03.032
Cortex, Vol. 141 (august 2021) , p. 112-127
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7.
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11 p, 1.8 MB |
The impact of dopaminergic treatment over cognitive networks in Parkinson's disease : Stemming the tide?
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Aracil-Bolaños, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Sampedro, Frederic (Institut d'Investigació Biomèdica Sant Pau) ;
Pujol, J. (Centro de Investigación Biomédica en Red de Salud Mental) ;
Soriano-Mas, C. (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
González-de-Echávarri, José María (Barcelonaβeta Brain Research Center (BBRC)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Dopamine-replacing therapies are an effective treatment for the motor aspects of Parkinson's disease. However, its precise effect over the cognitive resting-state networks is not clear; whether dopaminergic treatment normalizes their functional connectivity-as in other networks- and the links with cognitive decline are presently unknown. [...]
2021 - 10.1002/hbm.25650
Human brain mapping, Vol. 42 Núm. 17 (january 2021) , p. 5736-5746
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8.
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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, H. (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, V. (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, F. (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, K. (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, M. 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, J. (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, R.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, V. (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, M (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, M. (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, A. (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, J. (Hospital General de Segovia) ;
Duran, R. (Universidad de Granada) ;
Escamilla-Sevilla, F. (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, M. (Hospital Clínic i Provincial de Barcelona) ;
Feliz, C. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, M. (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, R. (Hospital Clínic i Provincial de Barcelona) ;
Garcia, C.. (Hospital Universitario Central de Asturias) ;
García-Ruiz, P. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Heredia, M. J. G. (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, J. (Institut de Recerca Sant Joan de Déu) ;
Infante, J. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Jimenez-Escrig, A. (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, J. L. (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 de València) ;
Marín, J. (Institut d'Investigació Biomèdica Sant Pau) ;
Marti, M. J. (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, J. C. (Instituto Ramón y Cajal de Investigación Sanitaria. Hospital Universitario Ramón y Cajal) ;
Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
González, M. M. (Hospital Universitario Central de Asturias) ;
Mata, M. (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, E. (Hospital Clínic i Provincial de Barcelona) ;
Pagonabarraga Mora, Javier (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Pastor, P. (Mútua de Terrassa) ;
Errazquin, F. P. (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, C. (Universidad de Granada) ;
Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, M. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ;
Tabernero, C. (Hospital General de Segovia) ;
Tartari, J. P. (Mútua de Terrassa) ;
Tejera-Parrado, C. (v) ;
Tolosa, E. (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, F. (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, F. (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, V. (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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9.
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10 p, 1.1 MB |
Predictors of clinically significant quality of life impairment in Parkinson's disease
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Santos García, Diego (Complejo Hospitalario Universitario de A Coruña) ;
de Deus Fonticoba, Teresa (Complejo Hospitalario Universitario de Ferrol) ;
Cores Bartolomé, C (Complejo Hospitalario Universitario de A Coruña) ;
Muñoz, G. (Complejo Hospitalario Universitario de A Coruña) ;
Paz González, J. M. (Complejo Hospitalario Universitario de A Coruña) ;
Martínez Miró, C. (Complejo Hospitalario Universitario de A Coruña) ;
Suárez, E. (Complejo Hospitalario Universitario de Ferrol) ;
Jesús, S. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Aguilar Barberà, Miquel (Mútua de Terrassa) ;
Pastor, P. (Mútua de Terrassa) ;
Planellas, L. (Neurología. Clínica del Pilar) ;
Cosgaya, Marina (Hospital Clínic i Provincial de Barcelona) ;
García Caldentey, J. (Centro Neurológico Oms 42) ;
Caballol, N. (Hospital de Sant Joan Despí Moisès Broggi) ;
Legarda, I. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron) ;
Cabo-Lopez, I (Complejo Hospitalario Universitario de Pontevedra) ;
López Manzanares, L. (Hospital Universitario de la Princesa (Madrid)) ;
González Aramburu, I. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Ávila-Rivera, M. A (Consorci Sanitari Integral. Hospital General de L'Hospitalet. L'Hospitalet de Llobregat) ;
Catalán, M. J. (Hospital Universitario Clínico San Carlos (Madrid)) ;
Nogueira, V. (Hospital Da Costa) ;
Puente, V. (Hospital del Mar (Barcelona, Catalunya)) ;
Ruíz de Arcos, M. (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Borrué, C. (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Solano Vila, B. (Institut Català de la Salut) ;
Álvarez Sauco, M. (Hospital General Universitario de Elche) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Escalante, Sonia (Hospital de Tortosa Verge de la Cinta) ;
Cubo, Esther (Complejo Asistencial Universitario de Burgos) ;
Carrillo Padilla, F. (Hospital Universitario de Canarias (La Laguna)) ;
Martínez-Castrillo, Juan Carlos (Hospital Universitario Ramón y Cajal (Madrid)) ;
Sánchez Alonso, P. (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Alonso Losada, M. G. (Hospital Álvaro Cunqueiro (Vigo)) ;
López Ariztegui, N (Complejo Hospitalario de Toledo) ;
Gastón, I. (Complejo Hospitalario de Navarra) ;
Clavero, P. (Complejo Hospitalario de Navarra) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Blázquez Estrada, M. (Hospital Universitario Central de Asturias) ;
Seijo, M. (Complejo Hospitalario Universitario de Pontevedra) ;
Rúiz Martínez, J. (Hospital Universitario de Donostia.(Sant Sebastià, País Basc)) ;
Valero, C. (Hospital Arnau de Vilanova (València)) ;
Kurtis, M. (Hospital Ruber Internacional) ;
Fàbregues-Boixar i Nebot, Oriol de (Hospital Universitari Vall d'Hebron) ;
González-Ardura, J (Hospital Universitario de Cabueñes (Gijón)) ;
Ordás, C. (Hospital Universitario Rey Juan Carlos (Madrid)) ;
López Díaz, L. M. (Complejo Hospitalario Universitario de Ourense) ;
McAfee, D. (Univeristy of Pennsylvania) ;
Martinez-Martin, P. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Mir, P. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Adarmes, D. A. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Almeria, Marta (Mútua de Terrassa) ;
Alonso Cánovas, A. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Alonso Frech, F. (Hospital Universitario Clínico San Carlos (Madrid)) ;
Alonso Redondo, R. (Hospital Universitario Lucus Augusti (Lugo)) ;
Álvarez, I. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Aneiros Díaz, Á. (Complejo Hospitalario Universitario de Ferrol) ;
Arnáiz, S. (Complejo Asistencial Universitario de Burgos) ;
Arribas, S. (Mútua de Terrassa) ;
Ascunce Vidondo, A. (Complejo Hospitalario de Navarra) ;
Bernardo Lambrich, N. (Hospital de Tortosa Verge de la Cinta) ;
Bejr-Kasem Marco, Helena (Institut d'Investigació Biomèdica Sant Pau) ;
Botí, M. Ángeles (Mútua de Terrassa) ;
Buongiorno, M. T. (Mútua de Terrassa) ;
Cabello González, C. (Complejo Hospitalario de Navarra) ;
Cámara, A (Hospital Clínic i Provincial de Barcelona) ;
Canfield Medina, H. (Complejo Hospitalario Universitario de Ferrol) ;
Carrillo, F. (Unidad de Trastornos del Movimiento. Servicio de Neurología y Neurofisiología Clínica. Instituto de Biomedicina de Sevilla. Hospital Universitario Virgen del Rocío (Sevilla)) ;
Casas, E. (Complejo Asistencial Universitario de Burgos) ;
Cortina Fernández, A. (Complejo Hospitalario Universitario de Ferrol) ;
Cots-Foraster, Anna (Institut Català de la Salut) ;
Crespo Cuevas, Ane Miren (Hospital del Mar (Barcelona, Catalunya)) ;
Díez-Fairen, M. (Hospital Universitari Mutua de Terrassa. Terrassa) ;
Dotor García-Soto, J. (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Erro, E. (Complejo Hospitalario de Navarra) ;
Estelrich Peyret, E. (Institut Català de la Salut) ;
Fernández Guillán, N. (Complejo Hospitalario Universitario de Ferrol) ;
Gámez, P. (Complejo Asistencial Universitario de Burgos) ;
Gallego, Miguel (Hospital Universitario de la Princesa (Madrid)) ;
García Campos, C. (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
García Moreno, José Manuel (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Gómez Garre, M. P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Gómez Mayordomo, V. (Hospital Clínico San Carlos (Madrid)) ;
González Aloy, J. (Institut Català de la Salut) ;
González García, B. (Hospital Universitario de la Princesa (Madrid)) ;
González Palmás, M. J. (Complejo Hospitalario Universitario de Pontevedra) ;
Toledo, G. ;
Gabriel, R. (Hospital Universitario de Canarias (La Laguna)) ;
Golpe Díaz, A. (Complejo Hospitalario Universitario de Ferrol) ;
Grau Solá, M. (Hospital de Sant Joan Despí Moisès Broggi) ;
Guardia, G. (Hospital Universitari Mutua de Terrassa. Terrassa) ;
Horta, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Idoate Calderón, D. (Complejo Hospitalario Universitario de Pontevedra) ;
Infante, J. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Labandeira, C. (Hospital Álvaro Cunqueiro (Vigo)) ;
Labrador-Espinosa, Miguel A (Instituto de Biomedicina de Sevilla) ;
Lacruz, F. (Complejo Hospitalario de Navarra) ;
Lage Castro, M. (Complejo Hospitalario Universitario de Pontevedra) ;
Lastres Gómez, S. (Complejo Hospitalario Universitario de Pontevedra) ;
López Seoane, B. (Hospital General Juan Cardona) ;
Lucas del Pozo, S. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Macías, Y. (Hospital Universitario Fundación Alcorcón) ;
Mata, M. (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Martí Andres, G. (Clínica Universidad de Navarra) ;
Martí, M. J. (Hospital Clínic i Provincial de Barcelona) ;
Meitín, M. T. (Hospital Da Costa) ;
Menéndez González, M. (Hospital Universitario Central de Asturias) ;
Méndez del Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Miranda Santiago, J. (Complejo Asistencial Universitario de Burgos) ;
Casado, M. (COPPADIS Study Group) ;
María, I. (Complejo Hospitalario de Toledo) ;
Moreno Diéguez, A. (Complejo Hospitalario Universitario de Ferrol) ;
Novo Amado, A. (Hospital General Juan Cardona) ;
Novo Ponte, S. (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pareés, I. (Hospital Ruber Internacional) ;
Pascual-Sedano, Berta María (Institut d'Investigació Biomèdica Sant Pau) ;
Pérez Fuertes, A. (CHUF. Complejo Hospitalario Universitario de Ferrol) ;
Pérez Noguera, R. (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Planas-Ballvé, A. (Hospital de Sant Joan Despí Moisès Broggi) ;
Prats, M. A. (Institut Català de la Salut) ;
Prieto Jurczynska, C. (Hospital Universitario Rey Juan Carlos (Madrid)) ;
Pueyo Morlans, M. (Hospital Universitario de Canarias (La Laguna)) ;
Puig-Davi, Arnau (Institut d'Investigació Biomèdica Sant Pau) ;
Redondo Rafales, N. (Hospital Universitario de la Princesa (Madrid)) ;
Rodríguez Méndez, L. (Complejo Hospitalario Universitario de Ferrol) ;
Rodríguez Pérez, A. B. (Hospital General Universitario de Elche) ;
Roldán, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Sánchez-Carpintero, M. (Complejo Hospitalario Universitario de Ferrol) ;
Sánchez Díez, G. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Sánchez Rodríguez, A. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Santacruz, P. (Hospital Clínic i Provincial de Barcelona) ;
Segundo Rodríguez, J. C. (Complejo Hospitalario de Toledo) ;
Sierra Peña, M. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Tartari, J. P. (Mutua de Terrassa) ;
Vargas, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Villanueva, C. (Hospital Universitario Clínico San Carlos (Madrid)) ;
Vives-Pastor, B (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Villar, M. D. (Hospital Universitario de Canarias (La Laguna))
Quality of life (QOL) plays an important role in independent living in Parkinson's disease (PD) patients, being crucial to know what factors impact QoL throughout the course of the disease. Here we identified predictors of QoL impairment in PD patients from a Spanish cohort. [...]
2021 - 10.1038/s41531-021-00256-w
NPJ Parkinson's disease, Vol. 7 Núm. 1 (december 2021) , p. 118
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Measuring the functional impact of cognitive impairment in Huntington's disease
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Horta, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Martinez-Horta, Saul (Institut d'Investigació Biomèdica Sant Pau) ;
Pérez-Pérez, Jesús (Institut d'Investigació Biomèdica Sant Pau) ;
Sampedro, Frederic (Institut d'Investigació Biomèdica Sant Pau) ;
Puig-Davi, Arnau (Institut d'Investigació Biomèdica Sant Pau) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Background: Patients with Huntington's disease (HD) exhibit a variable predominance of cognitive, behavioral and motor symptoms. A specific instrument focusing on the impact of cognitive impairment in HD over functional capacity is lacking. [...]
2022 - 10.1007/s00415-021-10955-2
Journal of Neurology, 2022
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