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10 p, 567.2 KB |
Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes : Clinical and Radiological Similarities and Specificities
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Ruiz Barrio, Iñigo (Institut d'Investigació Biomèdica Sant Pau) ;
Horta, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
The progressive supranuclear palsy (PSP) syndrome encompasses different entities. PSP disease of sporadic origin is the most frequent presentation, but different genetic mutations can lead either to monogenic variants of PSP disease, or to other conditions with a different pathophysiology that eventually may result in PSP phenotype. [...]
2022 -  10.3389/fneur.2022.861585
Frontiers in neurology, Vol. 13 (26 2022) , p. 861585
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18 p, 1.1 MB |
Motor Fluctuations Development Is Associated with Non-Mostor Symptoms Burden Progression in Parkinson's Disease Patients : A 2-Year Follow-Up Study
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Santos-García, D. (Complejo Hospitalario Universitario de A Coruña (CHUAC)) ;
Deus Fonticoba, T.D. (Complejo Hospitalario Universitario de Ferrol) ;
Bartolomé, C.C. (Complejo Hospitalario Universitario de A Coruña (CHUAC)) ;
Feal Painceiras, M.J. (Complejo Hospitalario Universitario de A Coruña (CHUAC)) ;
Castro, E.S. (Complejo Hospitalario Universitario de Ferrol) ;
Canfield, H. (Complejo Hospitalario Universitario de Ferrol) ;
Miró, C.M. (Complejo Hospitalario Universitario de A Coruña (CHUAC)) ;
Jesús, S. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Aguilar, M. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Pastor, P. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Planellas, Lluis (Hospital Clínic i Provincial de Barcelona) ;
Cosgaya, Marina (Hospital Clínic i Provincial de Barcelona) ;
Caldentey, J.G. ;
Caballol, Nuria (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, I. (Complejo Hospitalario Universitario de Pontevedra) ;
Manzanares, L.L. (Hospital Universitario de la Princesa (Madrid)) ;
Aramburu, I.G. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Ávila Rivera, M.A. (Consorci Sanitari Integral. Hospital General de L'Hospitalet) ;
Mayordomo, V.G. (Hospital Universitario Clínico San Carlos (Madrid)) ;
Nogueira, V. (Hospital Da Costa) ;
Puente, Víctor (Hospital del Mar (Barcelona, Catalunya)) ;
García-Soto, J.D. (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Borrué, C. (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Vila, B.S. (Institut Català de la Salut) ;
Sauco, M.Á. (Hospital General Universitario de Elche) ;
Vela, L. (Hospital Universitario Fundación Alcorcón) ;
Escalante, S. (Hospital de Tortosa Verge de la Cinta) ;
Cubo, E. (Complejo Asistencial Universitario de Burgos) ;
Padilla, F.C. (Hospital Universitario de Canarias (La Laguna)) ;
Martínez Castrillo, J.C. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Alonso, P.S. (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Alonso Losada, M.G. (Hospital Álvaro Cunqueiro (Vigo)) ;
Ariztegui, N.L. (Complejo Hospitalario de Toledo) ;
Gastón, I. (Complejo Hospitalario de Navarra) ;
Kulisevsky, Jaime (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Blázquez Estrada, M. (Hospital Universitario Central de Asturias) ;
Seijo, M. (Complejo Hospitalario Universitario de Pontevedra) ;
Martínez, J.R. (Hospital 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) ;
Ardura, J.G. (Hospital Universitario de Cabueñes (Gijón)) ;
Redondo, R.A. (Hospital Universitario Lucus Augusti (Lugo)) ;
Ordás, C. (Hospital Universitario Rey Juan Carlos (Madrid)) ;
López Díaz, L.M. (Complejo Hospitalario Universitario de Ourense) ;
McAfee, D. (University of Maryland School of Medicine) ;
Martinez-Martin, P. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Mir, P. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Santacruz, Pilar (Hospital Clínic i Provincial de Barcelona) ;
Pascual-Sedano, Berta María (Institut d'Investigació Biomèdica Sant Pau) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Martí, Maria José (Hospital Clínic i Provincial de Barcelona) ;
Martí-Andres, Gloria (Hospital Universitari Vall d'Hebron) ;
Lucas-del-Pozo, Sara (Hospital Universitari Vall d'Hebron) ;
Horta, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Crespo Cuevas, Ane Miren (Hospital del Mar (Barcelona, Catalunya)) ;
Cámara Lorenzo, Ana (Hospital Clínic i Provincial de Barcelona) ;
Bejr-kasem, Helena (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Universitat Autònoma de Barcelona
The aim of the present study was to analyze the progression of non-motor symptoms (NMS) burden in Parkinson's disease (PD) patients regarding the development of motor fluctuations (MF). PD patients without MF at baseline, who were recruited from January 2016 to November 2017 (V0) and evaluated again at a 2-year follow-up (V2) from 35 centers of Spain from the COPPADIS cohort, were included in this analysis. [...]
2022 - 10.3390/diagnostics12051147
Diagnostics, Vol. 12 Núm. 5 (may 2022) , p. 1147
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9 p, 1.0 MB |
Rotigotine transdermal patch and sleep in Parkinson's disease : where are we now?
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Rosa-Grilo, Miguel (King's College London) ;
Qamar, Mubasher A. (King's College London) ;
Taddei, Raquel N. (King's College London) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Sauerbier, Anna (King's College London) ;
Chaudhuri, K.Ray (King's College London) ;
Universitat Autònoma de Barcelona
A wide range of sleep dysfunction complicates Parkinson's disease during its course from prodromal to palliative stage. It is now increasingly acknowledged that sleep disturbances are thus integral to the disease and pose a significant burden impacting on quality of life of patients. [...]
2017 - 10.1038/S41531-017-0030-4
NPJ Parkinson's disease, Vol. 3 Núm. 1 (2017) , p. 28
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8 p, 826.6 KB |
Levodopa-carbidopa intestinal gel in advanced Parkinson's : Final results of the GLORIA registry
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Antonini, Angelo (University of Padua) ;
Poewe, Werner (Medical University of Innsbruck) ;
Chaudhuri, K.Ray (King's College and King's College Hospital) ;
Jech, Robert (General University Hospital in Prague) ;
Pickut, Barbara (Michigan State University) ;
Pirtošek, Zvezdan (University Medical Center Ljubljana) ;
Szasz, Jozsef (University of Medicine and Pharmacy Tirgu-Mures) ;
Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Winkler, Christian (Lindenbrunn Hospital) ;
Bergmann, Lars (AbbVie Inc.) ;
Yegin, Ashley (AbbVie Inc.) ;
Onuk, Koray (AbbVie Inc.) ;
Barch, David (AbbVie Inc.) ;
Odin, Per (Lund University) ;
Amalia, Ene (University Emergency Hospital) ;
Arnold, Guy (Sindelfingen Hospital) ;
Bajenaru, Ovidiu (University of Medicine and Pharmacy "Carol Davila") ;
Bergmans, Bruno (AZ St-Jan Brugge-Oostende AV) ;
Bjornara, Kari Anne (Drammen Hospital) ;
Blackie, Jeff (John Hunter Hospital) ;
Bode, Matthias (Odense University Hospital (Dinamarca)) ;
Bourgeois, Paul (Department of Neurology AZ Groeninge) ;
Bohlhalter, Stephan (Neurology and Neurorehabilitation Center) ;
Buraga, Ioan (Colentina Hospital) ;
Burkhard, Pierre R. (Geneva University Hospitals) ;
Busson, Philippe (Centre Hospitalier Avranches Granvilles) ;
Calopa, Matilde (Hospital Universitari de Bellvitge) ;
Clausen, Jesper (Rigshospitalet/Glostup) ;
Danielsen, Erik Hvid (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Defebvre, Luc (Université of Lille) ;
Delvaux, Valerie (University of Liege) ;
Dethy, Sophie (Chu-Tivoli) ;
Dietrichs, Espen (University of Oslo) ;
Fàbregues-Boixar i Nebot, Oriol de (Hospital Universitari Vall d'Hebron) ;
Gerhard, Ransmayr (Kepler University Hospital) ;
Gusmaroli, Graziano (Ospedale degli Infermi di Biella) ;
Hahn, Kirsten ;
Hauptmann, Björn (Neurologisches Zentrum) ;
Henriksen, Tove (University Hospital of Bispebjerg) ;
Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron) ;
Jeanjean, A. (Université catholique de Louvain) ;
Kaiserova, Michaela (Palacky University) ;
Kassubek, Jan (University of Ulm) ;
Kimber, Thomas (University of Adelaide) ;
Konitsiotis, Spyridon (University of Ioannina) ;
Krüger, Rejko (University of Tübingen) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Leenders, Jo (Sint-Dimpa Ziekenhuis) ;
Lundqvist, Christofer (Akershus University Hospital) ;
Ory Magne, F. (Toulouse University Hospital) ;
Marano, Pietro (Nuova Casa di Cura D'Anna) ;
Milanov, Ivan (University Neurological Hospital "St. Naum") ;
Modugno, Nicola (IRCCS Neuromed) ;
Misbahuddin, Anjum (Essex Centre for Neurological Sciences) ;
Nevrly, Martin (University Hospital and Faculty of Medicine and Dentistry of Palacky University) ;
Panayiotis, Zikos (251 Hellenic Air Force Hospital) ;
Pedersen, Kenn Freddy (Stavanger University Hospital) ;
Pedersen, Stephen W. (Glostrup Hospital University of Copenhagen) ;
Perju-Dumbrava, Lacramioara (University of Medicine and Pharmacy "Iuliu Hatieganu") ;
Ponsen, M.M. (Meander Medical Center) ;
Popescu, Bogdan O. (Carol Davila University of Medicine and Pharmacy) ;
Rijntjes, Michel (University Clinic Freiburg) ;
Puente, V. (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Redecker, Christoph (Jena University Hospital (Alemania)) ;
Schrader, Christoph (Hannover Medical School) ;
Sensi, Mariachiara (Arcispedale S.Anna) ;
Simu, Michaela (UMF"Victor Babes") ;
Spanaki, Cleanthe (University of Crete) ;
Storch, Alexander (University of Rostock) ;
Storstein, Anette (Haukeland University Hospital (Bergen, Noruega)) ;
Tomantschger, Volker (Gailtal-Klinik Hermagor) ;
van der Linden, Chris (St. Lucas Hospital Ghent) ;
van Laar, T. (University Medical Center Groningen) ;
Viallet, F. (CH du pays d'Aix) ;
Witjas, Tatiana (University Hospital Timone) ;
Wolz, Martin (Elblandklinikum Meissen) ;
Zibetti, Maurizio (University of Torino) ;
Van Zandijcke, Michel (AZ Sint-Jan Brugge) ;
Universitat Autònoma de Barcelona
This registry evaluated the 24-month safety and efficacy of levodopa-carbidopa intestinal gel (LCIG) treatment in advanced Parkinson's disease (PD) patients under routine clinical care. Motor fluctuations, dyskinesia, non-motor symptoms, quality of life, and safety were evaluated. [...]
2017 - 10.1016/j.parkreldis.2017.09.018
Parkinsonism and Related Disorders, Vol. 45 (december 2017) , p. 13-20
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4 p, 649.0 KB |
Early gray matter volume loss in MAPT H1H1 de Novo PD patients : A possible association with cognitive decline
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Sampedro, Frederic (Institut d'Investigació Biomèdica Sant Pau) ;
Marín-Lahoz, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Martinez-Horta, Saul (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
The MAPT H1 haplotype has been identified as a predictor of cognitive decline in Parkinson's disease (PD). However, its underlying pathological mechanisms have not been fully established. In this work, using a cohort of 120 de novo PD patients with preserved cognition from the Parkinson's Progression Markers Initiative (PPMI) database, we found that patients who were homozygous for MAPT H1 had less gray matter volume (GMV) and greater 1-year GMV loss than patients without this genetic profile. [...]
2018 - 10.3389/fneur.2018.00394
Frontiers in neurology, Vol. 9 Núm. MAY (30 2018) , p. 394
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5 p, 1.0 MB |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene
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Rodríguez-Traver, E. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Rodríguez, C. (Hospital General Universitario Gregorio Marañón) ;
Díaz-Guerra, E. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Arenas, Fabián (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Araúzo-Bravo, Marcos (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Orera, Maria (Gregorio Marañón Hospital) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Moratalla, R. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Vicario, Carlos (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Universitat Autònoma de Barcelona
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We report the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from a female PD patient carrying the L444P/wt mutation. [...]
2019 - 10.1016/j.scr.2019.101578
Stem Cell Research, Vol. 40 (october 2019) , p. 101578
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5 p, 5.2 MB |
A collection of integration-free iPSCs derived from Parkinson's disease patients carrying mutations in the GBA1 gene
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Rodríguez-Traver, Eva (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Díaz-Guerra, Eva (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Rodríguez, César (Servicio de Bioquímica Clínica. Hospital General Universitario Gregorio Marañón) ;
Fernández, Pablo (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Arenas, Fabián (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Araúzo-Bravo, Marcos (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Orera, Maria (Gregorio Marañón Hospital) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Moratalla, Rosario (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Vicario, Carlos (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Universitat Autònoma de Barcelona
Mutations in the GBA1 gene, which encodes the lysosomal enzyme Glucocerebrosidase1 are major risk factors for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We have generated induced pluripotent stem cells (iPSCs) from fibroblasts of four PD patients carrying the N370S/wt or the L444P/wt heterozygous mutations in GBA1. [...]
2019 - 10.1016/j.scr.2019.101482
Stem Cell Research, Vol. 38 (july 2019) , p. 101482
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5 p, 1.5 MB |
A collection of three integration-free iPSCs derived from old male and female healthy subjects
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Rodríguez-Traver, Eva (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Díaz-Guerra, Eva (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Rodríguez, César (Hospital General Universitario Gregorio Marañón) ;
Arenas, Fabián (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Orera, Maria (Hospital General Universitario Gregorio Marañón) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Moratalla, Rosario (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Vicario, Carlos (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Universitat Autònoma de Barcelona
Here, we present the characterization of three iPSC lines derived from dermal fibroblasts of old healthy subjects. Fibroblasts were reprogrammed using Sendai viral vectors encoding OCT4, SOX2, KLF4 and c-MYC. [...]
2020 - 10.1016/j.scr.2019.101663
Stem Cell Research, Vol. 42 (january 2020) , p. 101663
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15 p, 294.1 KB |
The reliability of a deep learning model in clinical out-of-distribution MRI data : A multicohort study
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Mårtensson, G. (Karolinska Institutet (Estocolm, Suècia)) ;
Ferreira, D. (Karolinska Institutet (Estocolm, Suècia)) ;
Granberg, T. (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Cavallin, L. (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Oppedal, K. (University of Stavanger) ;
Padovani, A. (University of Brescia) ;
Rektorova, I. (Masaryk University) ;
Bonanni, Laura (University G d'Annunzio of Chieti-Pescara) ;
Pardini, M. (University of Genoa and Neurology Clinics) ;
Kramberger, M.G. (Univerza V Ljubljani) ;
Taylor, J.P. (Newcastle University) ;
Hort, J. (Charles University) ;
Snædal, J. (Landspitali University Hospital (Reykjavík, Islàndia)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Blanc, F. (University of Strasbourg and French National Centre for Scientific Research (CNRS)) ;
Antonini, Angelo (University of Padua) ;
Mecocci, Patrizia (University of Perugia) ;
Vellas, B. (University of Toulouse) ;
Tsolaki, Magda (3rd Aristotle University of Thessaloniki) ;
Kłoszewska, Iwona (Medical University of Lodz) ;
Soininen, H. (Kuopio University Hospital ( Finlàndia)) ;
Lovestone, S. (University of Oxford) ;
Simmons, A. (King's College London) ;
Aarsland, Dag (King's College London) ;
Westman, E. (King's College London) ;
Universitat Autònoma de Barcelona
Deep learning (DL) methods have in recent years yielded impressive results in medical imaging, with the potential to function as clinical aid to radiologists. However, DL models in medical imaging are often trained on public research cohorts with images acquired with a single scanner or with strict protocol harmonization, which is not representative of a clinical setting. [...]
2020 - 10.1016/j.media.2020.101714
Medical Image Analysis, Vol. 66 (december 2020) , p. 101714
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