1.
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5 p, 4.7 MB |
GNE-related thrombocytopenia : evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
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Bottega, Roberta (Istitute for Maternal and Child Health) ;
Marzollo, Antonio (Istituto di Ricerca Pediatrica) ;
Marinoni, Maddalena (F. Del Ponte Hospital) ;
Athanasakis, Emmanouil (Istitute for Maternal and Child Health) ;
Persico, Ilaria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Bianco, Anna Monica (Istitute for Maternal and Child Health) ;
Faleschini, Michela (Istitute for Maternal and Child Health) ;
Valencic, Erica (Istitute for Maternal and Child Health) ;
Simoncini, Daniela (F. Del Ponte Hospital) ;
Rossini, Linda (University Hospital of Padova (Pàdua, Itàlia)) ;
Corsolini, Fabio (Istituto Giannina Gaslini) ;
La Bianca, Martina (Istitute for Maternal and Child Health) ;
Robustelli, Giuseppe (F. Del Ponte Hospital) ;
Gabelli, Maria (University Hospital of Padova (Pàdua, Itàlia)) ;
Agosti, Massimo (F. Del Ponte Hospital) ;
Biffi, Alessandra (University Hospital of Padova (Pàdua, Itàlia)) ;
Grotto, Paolo (Hospital of Treviso) ;
Bozzi, Valeria (IRCCS Policlinico San Matteo Foundation) ;
Noris, Patrizia (University of Pavia) ;
Burlina, Alberto B. (University Hospital of Padova (Pàdua, Itàlia)) ;
Pio d'Adamo, Adamo (University of Trieste) ;
Tommasini, Alberto (University of Trieste) ;
Faletra, Flavio (Istitute for Maternal and Child Health) ;
Pastore, Annalisa (European Synchrotron Radiation Facility) ;
Savoia, Anna (University of Trieste)
2022 - 10.3324/haematol.2021.279689
Haematologica, Vol. 107, Issue 3 (March 2022) , p. 750-754
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2.
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12 p, 544.9 KB |
Association of Apolipoprotein e with Intracerebral Hemorrhage Risk by Race/Ethnicity : A Meta-analysis
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Marini, Sandro (Massachusetts General Hospital (Boston)) ;
Crawford, Katherine (Massachusetts General Hospital (Boston)) ;
Morotti, A. (Fondazione Mondino IRCCS, Pavia) ;
Lee, M. J. (Massachusetts General Hospital (Boston)) ;
Pezzini, Alessandro (Università degli Studi di Brescia) ;
Moomaw, C. J. (University of Cincinnati) ;
Flaherty, M. L. (University of Cincinnati) ;
Montaner, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Roquer González, Jaume (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Jimenez Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Giralt Steinhauer, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Elosua, Roberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cuadrado-Godia, Elisa (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Soriano Tarraga, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Slowik, A. (Jagiellonian University Medical College, Kraków) ;
Jagiella, Jeremiasz M (Jagiellonian University Medical College, Kraków) ;
Pera, J. (Jagiellonian University Medical College, Kraków) ;
Urbanik, Andrzej (Jagiellonian University Medical College, Kraków) ;
Pichler, A. (Jagiellonian University Medical College, Kraków) ;
Hansen, Björn M (Lund University) ;
McCauley, J. L. (John P. Hussman Institute for Human Genomics, Miami) ;
Tirschwell, D. L. (University of Washington) ;
Selim, Magdy (Beth Israel Deaconess Medical Center, Boston) ;
Brown, D. L. (University of Michigan) ;
Silliman, Scott L. (University of Florida College of Medicine) ;
Worrall, B. B. (University of Virginia Health System) ;
Meschia, J. F. (Mayo Clinic, Jacksonville, Florida) ;
Kidwell, C. S. (University of Arizona) ;
Testai, F. D. (University of Illinois) ;
Kittner, S. J. (University of Maryland School of Medicine) ;
Schmidt, H. (Medical University of Graz) ;
Enzinger, C. (Medical University of Graz) ;
Deary, Ian J. (University of Edinburgh) ;
Rannikmae, K. (University of Edinburgh) ;
Samarasekera, N. (University of Edinburgh) ;
Salman, R. A. S. (University of Edinburgh) ;
Sudlow, C. L. (University of Edinburgh) ;
Klijn, C. J. M. (UMC Utrecht Brain Center Rudolf Magnus) ;
Van Nieuwenhuizen, K. M. (UMC Utrecht Brain Center Rudolf Magnus) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Delgado Martínez, María Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Norrving, B. (Lund University) ;
Lindgren, A. (Lund University) ;
Goldstein, J. N. (Massachusetts General Hospital (Boston)) ;
Viswanathan, Anand (Massachusetts General Hospital (Boston)) ;
Greenberg, S. M. (Massachusetts General Hospital (Boston)) ;
Falcone, G. J. (Yale University) ;
Biffi, Alessandro (Massachusetts General Hospital (Boston)) ;
Langefeld, Carl D (Wake Forest University, Winston-Salem, North Carolina) ;
Woo, D. (University of Cincinnati College of Medicine) ;
Rosand, J. (Massachusetts General Hospital (Boston)) ;
Anderson, C. D. (Massachusetts General Hospital (Boston)) ;
Universitat Autònoma de Barcelona
Importance: Genetic studies of intracerebral hemorrhage (ICH) have focused mainly on white participants, but genetic risk may vary or could be concealed by differing nongenetic coexposures in nonwhite populations. [...]
2019 - 10.1001/jamaneurol.2018.4519
JAMA Neurology, Vol. 76 Núm. 4 (april 2019) , p. 480-491
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3.
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10 p, 990.6 KB |
Brain hemorrhage recurrence, small vessel disease type, and cerebral microbleeds
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Charidimou, Andreas ;
Imaizumi, Toshio ;
Moulin, Solene ;
Biffi, Alessandro ;
Samarasekera, Neshika ;
Yakushiji, Yusuke ;
Peeters, Andre ;
Vandermeeren, Yves ;
Laloux, Patrice ;
Baron, Jean-Claude ;
Hernandez-Guillamon, Mar ;
Montaner, Joan (Hospital Universitari Vall d'Hebron) ;
Casolla, Barbara ;
Gregoire, Simone M. ;
Kang, Dong-Wha ;
Kim, Jong S. ;
Naka, H. ;
Smith, Eric E. ;
Viswanathan, Anand ;
Jäger, Hans Rolf ;
Al-Shahi Salman, Rustam ;
Greenberg, Steven M. ;
Cordonnier, Charlotte ;
Werring, David J. ;
Universitat Autònoma de Barcelona
We evaluated recurrent intracerebral hemorrhage (ICH) risk in ICH survivors, stratified by the presence, distribution, and number of cerebral microbleeds (CMBs) on MRI (i. e. , the presumed causal underlying small vessel disease and its severity). [...]
2017 - 10.1212/WNL.0000000000004259
Neurology, Vol. 89 (august 2017) , p. 820-829
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4.
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11 p, 168.8 KB |
Genetic variants in CETP increase risk of intracerebral hemorrhage
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Anderson, Christopher D. (Broad Institute of MIT and Harvard) ;
Falcone, Guido J. (Departments of Epidemiology and Biostatistics, Harvard T. H. Chan School of Public Health) ;
Phuah, Chia-Ling (Broad Institute of MIT and Harvard) ;
Radmanesh, Farid (Broad Institute of MIT and Harvard) ;
Brouwers, H. Bart (Broad Institute of MIT and Harvard) ;
Battey, Thomas W. K. (Broad Institute of MIT and Harvard) ;
Biffi, Alessandro (Division of Psychiatry, Department of Psychiatry, MGH) ;
Peloso, Gina M. (Broad Institute of MIT and Harvard) ;
Liu, Dajiang J. (Institute of Personalized Medicine, Penn State College of Medicine) ;
Ayres, Alison M. (J. Philip Kistler Stroke Research Center, Department of Neurology, MGH) ;
Goldstein, Joshua N. (Department of Emergency Medicine, MGH) ;
Viswanathan, Anand (J. Philip Kistler Stroke Research Center, Department of Neurology, MGH) ;
Greenberg, Steven M. (J. Philip Kistler Stroke Research Center, Department of Neurology, MGH) ;
Selim, Magdy (Beth Israel Deaconess Medical Center) ;
Meschia, James F. (Mayo Clinic (Jacksonville, Estats Units d'Amèrica)) ;
Brown, Devin L. (University of Michigan Health System) ;
Worrall, Bradford B. (University of Virginia Health System) ;
Silliman, Scott L. (University of Florida College of Medicine) ;
Tirschwell, David L. (University of Washington) ;
Flaherty, Matthew L. (University of Cincinnati College of Medicine) ;
Kraft, Peter (Departments of Epidemiology and Biostatistics, Harvard T. H. Chan School of Public Health) ;
Jagiella, Jeremiasz M. (Jagiellonian University Medical College) ;
Schmidt, Helena (Medical University Graz) ;
Hansen, Björn M. (Skåne University Hospital (Suècia)) ;
Jimenez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Giralt Steinhauer, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Elosua, Roberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cuadrado-Godia, Elisa (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Soriano Tàrraga, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ;
van Nieuwenhuizen, Koen M. (University Medical Center Utrecht) ;
Klijn, Catharina J. M. (Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center) ;
Rannikmae, Kristiina (University of Edinburgh) ;
Samarasekera, Neshika (University of Edinburgh) ;
Salman, Rustam Al-Shahi (University of Edinburgh) ;
Sudlow, Catherine L. (University of Edinburgh) ;
Deary, Ian J. (University of Edinburgh) ;
Morotti, Andrea (Neurology Clinic, University of Brescia) ;
Pezzini, Alessandro (Neurology Clinic, University of Brescia) ;
Pera, Joanna (Jagiellonian University Medical College) ;
Urbanik, Andrzej (Jagiellonian University Medical College) ;
Pichler, Alexander (Medical University of Graz) ;
Enzinger, Christian (Medical University of Graz) ;
Norrving, Bo (Skåne University Hospital (Suècia)) ;
Montaner, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernandez-Cadenas, Israel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Delgado Martínez, María Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Roquer González, Jaume (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Lindgren, Arne (Skåne University Hospital (Suècia)) ;
Slowik, Agnieszka (Jagiellonian University Medical College) ;
Schmidt, Reinhold (Medical University of Graz) ;
Kidwell, Chelsea S. (University of Arizona) ;
Kittner, Steven J. (Baltimore Veterans Administration Medical Center and University of Maryland School of Medicine) ;
Waddy, Salina P. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Langefeld, Carl D. (Wake Forest University) ;
Abecasis, Goncalo (University of Michigan School of Public Health) ;
Willer, Cristen J. (University of Michigan Medical School) ;
Kathiresan, Sekar (Cardiovascular Disease Prevention Center, MGH) ;
Woo, Daniel (University of Cincinnati College of Medicine) ;
Rosand, Jonathan (Broad Institute of MIT and Harvard) ;
Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)
In observational epidemiologic studies, higher plasma high-density lipoprotein cholesterol (HDL-C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL-C; as such, medicines that inhibit CETP and raise HDL-C are in clinical development. [...]
2016 - 10.1002/ana.24780
Annals of neurology, Vol. 80 (october 2016) , p. 730-740
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