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1.
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15 p, 2.9 MB |
Adopting transfer learning for neuroimaging : a comparative analysis with a custom 3D convolution neural network model
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Soliman, Amira (Halmstad University) ;
Chang, Jose R. (National Cheng Kung University in Tainan) ;
Etminani, Kobra (Halmstad University) ;
Byttner, Stefan (Halmstad University) ;
Davidsson, Anette (Institution of Medicine and Health Sciences) ;
Martínez-Sanchis, Begoña (Hospital Universitari i Politècnic La Fe (València)) ;
Camacho, Valle (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Bauckneht, Matteo (IRCCS Ospedale Policlinico San Martino) ;
Stegeran, Roxana (Linköping University Hospital) ;
Ressner, Marcus (Linköping University Hospital) ;
Agudelo-Cifuentes, Marc (Hospital Universitari i Politècnic La Fe (València)) ;
Chincarini, Andrea (National Institute of Nuclear Physics) ;
Brendel, Matthias (University Hospital) ;
Rominger, Axel (University Hospital Bern) ;
Bruffaerts, Rose (University of Antwerp) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Kramberger, Milica G. (University Medical Centre) ;
Trost, Maja (University of Ljubljana) ;
Nicastro, Nicolas (Geneva University Hospitals (Suïssa)) ;
Frisoni, Giovanni B. (University Hospitals) ;
Lemstra, Afina W. (VU Medical Center Alzheimer Center) ;
Berckel, Bart N. M. van (Vrije Universiteit Amsterdam) ;
Pilotto, Andrea (University of Brescia) ;
Padovani, Alessandro (IRCCS Ospedale Policlinico San Martino) ;
Morbelli, Silvia (Stavanger University Hospital) ;
Aarsland, Dag (King's College London) ;
Nobili, Flavio (University of Genoa) ;
Garibotto, Valentina (Geneva University) ;
Ochoa-Figueroa, Miguel (Linköping University) ;
Universitat Autònoma de Barcelona
In recent years, neuroimaging with deep learning (DL) algorithms have made remarkable advances in the diagnosis of neurodegenerative disorders. However, applying DL in different medical domains is usually challenged by lack of labeled data. [...]
2022 -  10.1186/s12911-022-02054-7
BMC Medical Informatics and Decision Making, Vol. 22 (december 2022)
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2.
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22 p, 3.7 MB |
A 3D deep learning model to predict the diagnosis of dementia with Lewy bodies, Alzheimer's disease, and mild cognitive impairment using brain 18F-FDG PET
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Etminani, Kobra (Center for Applied Intelligent Systems Research (CAISR). Halmstad University) ;
Soliman, Amira (Center for Applied Intelligent Systems Research (CAISR). Halmstad University) ;
Davidsson, Anette (Department of Clinical Physiology. Department of Health. Medicine and Caring Sciences. Linköping University) ;
Chang, Jose R. (National Cheng Kung University in Tainan) ;
Martínez-Sanchis, Begoña (Hospital Universitari i Politècnic La Fe (València)) ;
Byttner, Stefan (Center for Applied Intelligent Systems Research (CAISR). Halmstad University) ;
Camacho, Valle (Institut d'Investigació Biomèdica Sant Pau) ;
Bauckneht, Matteo (Nuclear Medicine Unit. IRCCS Ospedale Policlinico San Martino) ;
Stegeran, Roxana (Department of Diagnostic Radiology. Linköping University Hospital) ;
Ressner, Marcus (Department of Medical Physics. Linköping University Hospital) ;
Agudelo-Cifuentes, Marc (Hospital Universitari i Politècnic La Fe (València)) ;
Chincarini, Andrea (National Institute of Nuclear Physics (INFN)) ;
Brendel, Matthias (Department of Nuclear Medicine. University Hospital. LMU Munich) ;
Rominger, Axel (Department of Nuclear Medicine. Inselspital. University Hospital Bern) ;
Bruffaerts, Rose (Biomedical Research Institute. Hasselt University) ;
Vandenberghe, Rik (Neurology Department. University Hospitals Leuven) ;
Kramberger, Milica G. (Department of Neurology. University Medical Centre) ;
Trost, Maja (Faculty of Medicine. University of Ljubljana) ;
Nicastro, Nicolas (Department of Clinical Neurosciences. Geneva University Hospitals) ;
Frisoni, Giovanni B. (LANVIE (Laboratoire de Neuroimagerie du Vieillissement). Department of Psychiatry. University Hospitals) ;
Lemstra, Afina W. (Department of Neurology. Alzheimer Center) ;
van Berckel, Bart N.M. (Department of Radiology & Nuclear Medicine. Amsterdam UMC. location VUmc) ;
Pilotto, Andrea (Parkinson's Disease Rehabilitation Centre) ;
Padovani, Alessandro (Neurology Unit. Department of Clinical and Experimental Sciences. University of Brescia) ;
Morbelli, Silvia (Department of Health Sciences. University of Genoa) ;
Aarsland, Dag (Department of Old Age Psychiatry. Institute of Psychiatry. Psychology and Neuroscience. King's College London) ;
Nobili, Flavio (Clinical Neurology. IRCCS Ospedale Policlinico San Martino) ;
Garibotto, Valentina (Division of Nuclear Medicine and Molecular Imaging. University Hospitals of Geneva and NIMTLab. Faculty of Medicine. University of Geneva) ;
Ochoa-Figueroa, Miguel (Center for Medical Image Science and Visualization (CMIV). Linköping University) ;
Universitat Autònoma de Barcelona
Purpose: The purpose of this study is to develop and validate a 3D deep learning model that predicts the final clinical diagnosis of Alzheimer's disease (AD), dementia with Lewy bodies (DLB), mild cognitive impairment due to Alzheimer's disease (MCI-AD), and cognitively normal (CN) using fluorine 18 fluorodeoxyglucose PET (18F-FDG PET) and compare model's performance to that of multiple expert nuclear medicine physicians' readers. [...]
2022 - 10.1007/s00259-021-05483-0
European Journal of Nuclear Medicine and Molecular Imaging, Vol. 49 Núm. 2 (january 2022) , p. 563-584
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3.
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13 p, 1.8 MB |
Replication study of plasma proteins relating to Alzheimer's pathology
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Shi, Liu (University of Oxford. Department of Psychiatry) ;
Winchester, Laura M. (University of Oxford. Department of Psychiatry) ;
Westwood, Sarah (University of Oxford. Department of Psychiatry) ;
Baird, Alison L (University of Oxford. Department of Psychiatry) ;
Anand, Sneha N (University of Oxford. Department of Psychiatry) ;
Buckley, Noel J. (University of Oxford. Department of Psychiatry) ;
Hye, Abdul (Maurice Wohl Clinical Neuroscience. Institute of Psychiatry. Psychology and Neuroscience. Kings College London) ;
Ashton, Nicholas J. (University of Gothenburg) ;
Bos, Isabelle (Alzheimer Center. VU University Medical Center) ;
Vos, Stephanie J.B. (Department of Psychiatry and Neuropsychology. School for Mental Health and Neuroscience. Alzheimer Centrum Limburg. Maastricht University) ;
Kate, Mara Ten (Amsterdam UMC. University Medical Center) ;
Scheltens, Philip (Amsterdam UMC. University Medical Center) ;
Teunissen, Charlotte E. (Amsterdam University Medical Centers (AUMC)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Gabel, Silvy (KU Leuven. Laboratory for Cognitive Neurology) ;
Meersmans, Karen (KU Leuven. Laboratory for Cognitive Neurology) ;
Engelborghs, Sebastiaan (Department of Neurology. UZ Brussel and Center for Neurociences (C4N). Vrije Universiteit Brussel) ;
De Roeck, Ellen E (Department of Neurology and Memory Clinic. Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ;
Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ;
Frisoni, Giovanni B. (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Blin, Olivier (AIX marseille university. INS. Ap-hm) ;
Richardson, Jill C. (Neurosciences Therapeutic Area. GlaxoSmithKline R&D) ;
Bordet, Régis (Inserm. University of Lille. CHU Lille) ;
Molinuevo, José L. (Barcelonaβeta Brain Research Center (BBRC)) ;
Rami Gonzalez, Lorena (Barcelonaβeta Brain Research Center (BBRC)) ;
Wallin, Anders (Institute of Neuroscience and Physiology. Sahlgrenska Academy at University of Gothenburg) ;
Kettunen, Petronella (Institute of Neuroscience and Physiology. Sahlgrenska Academy at University of Gothenburg) ;
Tsolaki, Magda (AHEPA University Hospital (Grècia)) ;
Verhey, Frans (Department of Psychiatry and Neuropsychology. School for Mental Health and Neuroscience. Alzheimer Centrum Limburg. Maastricht University) ;
Lleó, Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Sala, Isabel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Popp, Julius (Geriatric Psychiatry. Department of Mental Health and Psychiatry. Geneva University Hospitals) ;
Peyratout, Gwendoline (Lausanne University Hospital) ;
Martinez-Lage, Pablo (CITA-Alzheimer Foundation) ;
Tainta, Mikel (CITA-Alzheimer Foundation) ;
Johannsen, Peter (Danish Dementia Research Centre. Rigshospitalet. Copenhagen University Hospital) ;
Freund-Levi, Yvonne (Karolinska Institutet Center for Alzheimer Research. Division of Clinical Geriatrics. School of Medical Sciences Örebro University and Department of Neurobiology. Caring Sciences and Society (NVS)) ;
Frölich, Lutz (Department of Geriatric Psychiatry. Zentralinstitut für Seelische Gesundheit. University of Heidelberg) ;
Dobricic, Valerija (Lübeck Interdisciplinary Platform for Genome Analytics. Institutes of Neurogenetics and Cardiogenetics. University of Lübeck) ;
Legido-Quigley, Cristina (The Systems Medicine Group. Steno Diabetes Center) ;
Barkhof, Frederik (UCL Institutes of Neurology and Healthcare Engineering) ;
Andreasson, Ulf (Clinical Sahlgrenska University Hospital) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit)) ;
Streffer, Johannes (UCB. Braine-l'Alleud. Belgium. formerly Janssen R&D. LLC Beerse) ;
Lill, Christina M. (Ageing Epidemiology Research Unit. School of Public Health. Imperial College) ;
Bertram, Lars (Department of Psychology. University of Oslo) ;
Visser, Pieter Jelle (Alzheimer Center. VU University Medical Center) ;
Kolb, Hartmuth C. (Janssen R&D) ;
Narayan, Vaibhav A. (Janssen R&D) ;
Lovestone, Simon (Janssen R&D) ;
Nevado-Holgado, Alejo (Department of Psychiatry. University of Oxford)
Introduction: This study sought to discover and replicate plasma proteomic biomarkers relating to Alzheimer's disease (AD) including both the "ATN" (amyloid/tau/neurodegeneration) diagnostic framework and clinical diagnosis. [...]
2021 - 10.1002/alz.12322
Alzheimer's & Dementia, Vol. 17 Núm. 9 (september 2021) , p. 1452-1464
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4.
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13 p, 610.0 KB |
White Matter Hyperintensities Are No Major Confounder for Alzheimer's Disease Cerebrospinal Fluid Biomarkers
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van Waalwijk van Doorn, Linda J. C. ;
Ghafoorian, Mohsen ;
van Leijsen, Esther M. C. ;
Claassen, Jurgen A. H. R. ;
Arighi, Andrea ;
Bozzali, Marco ;
Cannas, Jorge ;
Cavedo, Enrica ;
Eusebi, Paolo ;
Farotti, Lucia ;
Fenoglio, Chiara ;
Fortea, Juan (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Frisoni, Giovanni B.. ;
Galimberti, Daniela ;
Greco, Viviana ;
Herukka, Sanna-Kaisa ;
Liu, Yawu ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
de Mendonça, Alexandre ;
Nobili, Flavio M. ;
Parnetti, Lucilla ;
Picco, Agnese ;
Pikkarainen, Maria ;
Salvadori, Nicola ;
Scarpini, Elio ;
Soininen, Hilkka ;
Tarducci, Roberto ;
Urbani, Andrea ;
Vilaplana, Eduard (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Meulenbroek, Olga ;
Platel, Bram ;
Verbeek, Marcel M. ;
Kuiperij, H. Bea ;
Universitat Autònoma de Barcelona
The cerebrospinal fluid (CSF) biomarkers amyloid-β 1-42 (Aβ), total and phosphorylated tau (t-tau, p-tau) are increasingly used to assist in the clinical diagnosis of Alzheimer's disease (AD). However, CSF biomarker levels can be affected by confounding factors. [...]
2021 - 10.3233/JAD-200496
Journal of Alzheimer's disease, Vol. 79 (january 2021) , p. 163-175
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5.
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16 p, 903.0 KB |
Dickkopf-1 Overexpression in vitro Nominates Candidate Blood Biomarkers Relating to Alzheimer's Disease Pathology
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Shi, Liu (University of Oxford) ;
Winchester, Laura M. (University of Oxford) ;
Liu, Benjamine Y. (University of Oxford) ;
Killick, Richard (Maurice Wohl Institute Clinical Neuroscience Institute) ;
Ribe, Elena M. (University of Oxford) ;
Westwood, Sarah (University of Oxford) ;
Baird, Alison L. (University of Oxford) ;
Buckley, Noel J. (University of Oxford) ;
Hong, Shengjun (University of Lübeck) ;
Dobricic, Valerija (University of Lübeck) ;
Kilpert, Fabian (University of Lübeck) ;
Franke, Andre (Christian-Albrechts-University of Kiel) ;
Kiddle, Steven (King's College London) ;
Sattlecker, Martina (King's College London) ;
Dobson, Richard (University College London) ;
Cuadrado, Antonio ("Victor Babes" National Institute of Pathology) ;
Hye, Abdul (Maurice Wohl Institute Clinical Neuroscience Institute) ;
Ashton, Nicholas J. (University of Gothenburg) ;
Morgan, Angharad R. (Cardiff University) ;
Bos, Isabelle (Amsterdam UMC. University Medical Center) ;
Vos, Stephanie J. B. (Maastricht University) ;
ten Kate, Mara (Amsterdam UMC. University Medical Center) ;
Scheltens, Philip (Amsterdam UMC. University Medical Center) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Gabel, Silvy (Laboratory for Cognitive Neurology) ;
Meersmans, Karen (Laboratory for Cognitive Neurology) ;
Engelborghs, Sebastiaan (Universitair Ziekenhuis Brussel-UZ Brussel. Department of Neurology) ;
De Roeck, Ellen E. (University of Antwerp) ;
Sleegers, Kristel (Center for Molecular Neurology) ;
Frisoni, Giovanni B.. (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Blin, Olivier (Aix-Marseille Université) ;
Richardson, Jill C. (GlaxoSmithKline R&D. Neurosciences Therapeutic Area) ;
Bordet, Régis (University of Lille) ;
Molinuevo, José L. (Barcelonaβeta Brain Research Center (BBRC)) ;
Rami Gonzalez, Lorena (Barcelonaβeta Brain Research Center (BBRC)) ;
Wallin, Anders (Sahlgrenska University Hospital (Suècia)) ;
Kettunen, Petronella (University of Oxford) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Verhey, Frans (Maastricht University) ;
Lleó, Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Alcolea, Daniel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Popp, Julius (University of Geneva) ;
Peyratout, Gwendoline (Lausanne University Hospital) ;
Martinez-Lage, Pablo (CITA-Alzheimer Foundation (San Sebastian)) ;
Tainta, Mikel (Organización Sanitaria Integrada Goierri) ;
Johannsen, Peter (Copenhagen University Hospital) ;
Teunissen, Charlotte E. (Amsterdam UMC. University Medical Center) ;
Freund-Levi, Yvonne (Department of Psychiatry, Örebro Universitetssjukhus) ;
Frölich, Lutz (University of Heidelberg) ;
Legido-Quigley, Cristina (Steno Diabetes Center Copenhagen) ;
Barkhof, Frederik (UCL Institutes of Neurology and Healthcare Engineering) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Rasmussen, Katrine Laura (University of Copenhagen) ;
Nordestgaard, Børge Grønne (Copenhagen University Hospital) ;
Frikke-Schmidt, Ruth (University of Copenhagen) ;
Nielsen, Sune Fallgaard (Copenhagen University Hospital) ;
Soininen, Hilkka (University of Eastern Finland) ;
Vellas, Bruno (Univeriste Paul Sabatier) ;
Kloszewska, Iwona (Medical University of Lodz) ;
Mecocci, Patrizia (University of Perugia) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit)) ;
Morgan, B. Paul (Cardiff University) ;
Streffer, Johannes (UCB Pharma (Braine-l'Alleud, Bèlgica)) ;
Visser, Pieter Jelle (Karolinska Institutet (Estocolm, Suècia)) ;
Bertram, Lars (University of Oslo) ;
Nevado-Holgado, Alejo (University of Oxford) ;
Lovestone, Simon (University of Oxford) ;
Universitat Autònoma de Barcelona
Previous studies suggest that Dickkopf-1 (DKK1), an inhibitor of Wnt signaling, plays a role in amyloid-induced toxicity and hence Alzheimer's disease (AD). However, the effect of DKK1 expression on protein expression, and whether such proteins are altered in disease, is unknown. [...]
2020 - 10.3233/JAD-200208
Journal of Alzheimer's disease, Vol. 77 (september 2020) , p. 1353-1368
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6.
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13 p, 955.5 KB |
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
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van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van Mossevelde, Sara (University Hospital Antwerp (Bèlgica)) ;
Perrone, Federica (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Bäumer, Veerle (University of Antwerp) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
De Bleecker, Jan (Universitair Ziekenhuis Gent) ;
Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rojas-Garcia, Ricard (Universitat Autònoma de Barcelona) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Lleó Bisa, Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Perneczky, Robert (West London Mental Health Trust) ;
Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Jordanova, Albena (Medical University-Sofia) ;
Sarafov, Stayko (Medical University-Sofia) ;
Tournev, Ivailo (New Bulgarian University) ;
de Mendonça, Alexandre (University of Lisbon) ;
Miltenberger-Miltényi, Gabriel (University of Lisbon) ;
Simões do Couto, Frederico (University of Lisbon) ;
Ramirez, Alfredo (University of Cologne) ;
Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ;
Heneka, Michael T. (University of Bonn) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Sleegers, Kristel (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Goeman, Johan (University Hospital Antwerp (Bèlgica)) ;
Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ;
Smets, Katrien (University Hospital Antwerp (Bèlgica)) ;
Robberecht, Wim (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Damme, Philip Van (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Bleecker, Jan De (Universitair Ziekenhuis Gent) ;
Santens, Patrick (Universitair Ziekenhuis Gent) ;
Dermaut, Bart (Universitair Ziekenhuis Gent) ;
Versijpt, Jan (University Hospital Brussels) ;
Michotte, Alex (University Hospital Brussels) ;
Ivanoiu, Adrian (Saint-Luc University Hospital) ;
Deryck, Olivier (General Hospital Sint-Jan Brugge) ;
Bergmans, Bruno (General Hospital Sint-Jan Brugge) ;
Delbeck, Jean (General Hospital Sint-Maria) ;
Bruyland, Marc (General Hospital Glorieux Ronse) ;
Willems, Christiana (Jessa Hospital) ;
Salmon, Eric (University of Liège and Memory Clinic) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ortega-Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ;
Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Boada, Mercè (Institut Català de Neurociènces Aplicades) ;
Ruiz Laza, Agustín (Institut Català de Neurociènces Aplicades) ;
Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ;
Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Santana, Isabel (University of Coimbra) ;
Rosário Almeida, Maria (University of Coimbra) ;
Frisoni, Giovanni B.. (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ;
Maetzler, Walter (Hertie Institute for Clinical Brain Research) ;
Matej, Radoslav (Charles University. Faculty of Medicine in Hradec Králové) ;
Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ;
Kovacs, Gabor G. (Medical University of Vienna) ;
Fabrizi, Gian Maria (University of Verona) ;
Testi, Silvia (University of Verona) ;
Universitat Autònoma de Barcelona
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. [...]
2017 - 10.1002/humu.23161
Human mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309
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