Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.
Identifieur interne : 001473 ( PubMed/Checkpoint ); précédent : 001472; suivant : 001474Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.
Auteurs : Ioana Cotlarciuc [Royaume-Uni] ; Thomas Marjot [Royaume-Uni] ; Muhammad S. Khan [Royaume-Uni] ; Sini Hiltunen [Finlande] ; Elena Haapaniemi [Finlande] ; Tiina M. Metso [Finlande] ; Jukka Putaala [Finlande] ; Susanna M. Zuurbier [Pays-Bas] ; Matthijs C. Brouwer [Pays-Bas] ; Serena M. Passamonti [Italie] ; Paolo Bucciarelli [Italie] ; Emanuela Pappalardo [Italie] ; Tasmin Patel [Royaume-Uni] ; Paolo Costa [Italie] ; Marina Colombi [Italie] ; Patrícia Canhão [Portugal] ; Aleksander Tkach [États-Unis] ; Rosa Santacroce [Italie] ; Maurizio Margaglione [Italie] ; Giovanni Favuzzi [Italie] ; Elvira Grandone [Italie] ; Donatella Colaizzo [Italie] ; Kostas Spengos [Grèce] ; Antonio Arauz [Mexique] ; Amanda Hodge [Canada] ; Reina Ditta [Canada] ; Stephanie Debette [France] ; Marialuisa Zedde [Italie] ; Guillaume Pare [Canada] ; José M. Ferro [Portugal] ; Vincent Thijs [Australie] ; Alessandro Pezzini [Italie] ; Jennifer J. Majersik [États-Unis] ; Ida Martinelli [Italie] ; Jonathan M. Coutinho [Pays-Bas] ; Turgut Tatlisumak [Finlande] ; Pankaj Sharma [Royaume-Uni]Source :
- BMJ open [ 2044-6055 ] ; 2016.
Abstract
Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated.
DOI: 10.1136/bmjopen-2016-012351
PubMed: 27881526
Affiliations:
- Australie, Canada, Finlande, France, Grèce, Italie, Mexique, Pays-Bas, Portugal, Royaume-Uni, États-Unis
- Angleterre, Aquitaine, Attique (région), Grand Londres, Hollande-Septentrionale, Lombardie, Nouvelle-Aquitaine, Ontario, Oxfordshire, Utah, Victoria (État)
- Amsterdam, Athènes, Bordeaux, Hamilton (Ontario), Londres, Melbourne, Milan, Oxford
- Université McMaster, Université d'Amsterdam, Université d'Oxford, Université de Londres, Université de Melbourne
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Metso</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Putaala, Jukka" sort="Putaala, Jukka" uniqKey="Putaala J" first="Jukka" last="Putaala">Jukka Putaala</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Zuurbier, Susanna M" sort="Zuurbier, Susanna M" uniqKey="Zuurbier S" first="Susanna M" last="Zuurbier">Susanna M. Zuurbier</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Brouwer, Matthijs C" sort="Brouwer, Matthijs C" uniqKey="Brouwer M" first="Matthijs C" last="Brouwer">Matthijs C. Brouwer</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Passamonti, Serena M" sort="Passamonti, Serena M" uniqKey="Passamonti S" first="Serena M" last="Passamonti">Serena M. 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wicri:level="4"><nlm:affiliation>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Costa, Paolo" sort="Costa, Paolo" uniqKey="Costa P" first="Paolo" last="Costa">Paolo Costa</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Colombi, Marina" sort="Colombi, Marina" uniqKey="Colombi M" first="Marina" last="Colombi">Marina Colombi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Canhao, Patricia" sort="Canhao, Patricia" uniqKey="Canhao P" first="Patrícia" last="Canhão">Patrícia Canhão</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Tkach, Aleksander" sort="Tkach, Aleksander" uniqKey="Tkach A" first="Aleksander" last="Tkach">Aleksander Tkach</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, University of Utah, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Utah, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Santacroce, Rosa" sort="Santacroce, Rosa" uniqKey="Santacroce R" first="Rosa" last="Santacroce">Rosa Santacroce</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Margaglione, Maurizio" sort="Margaglione, Maurizio" uniqKey="Margaglione M" first="Maurizio" last="Margaglione">Maurizio Margaglione</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Favuzzi, Giovanni" sort="Favuzzi, Giovanni" uniqKey="Favuzzi G" first="Giovanni" last="Favuzzi">Giovanni Favuzzi</name><affiliation wicri:level="1"><nlm:affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Grandone, Elvira" sort="Grandone, Elvira" uniqKey="Grandone E" first="Elvira" last="Grandone">Elvira Grandone</name><affiliation wicri:level="1"><nlm:affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Colaizzo, Donatella" sort="Colaizzo, Donatella" uniqKey="Colaizzo D" first="Donatella" last="Colaizzo">Donatella Colaizzo</name><affiliation wicri:level="1"><nlm:affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Spengos, Kostas" sort="Spengos, Kostas" uniqKey="Spengos K" first="Kostas" last="Spengos">Kostas Spengos</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Arauz, Antonio" sort="Arauz, Antonio" uniqKey="Arauz A" first="Antonio" last="Arauz">Antonio Arauz</name><affiliation wicri:level="1"><nlm:affiliation>Stroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico.</nlm:affiliation><country xml:lang="fr">Mexique</country><wicri:regionArea>Stroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City</wicri:regionArea><wicri:noRegion>Mexico City</wicri:noRegion></affiliation></author><author><name sortKey="Hodge, Amanda" sort="Hodge, Amanda" uniqKey="Hodge A" first="Amanda" last="Hodge">Amanda Hodge</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Ditta, Reina" sort="Ditta, Reina" uniqKey="Ditta R" first="Reina" last="Ditta">Reina Ditta</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Debette, Stephanie" sort="Debette, Stephanie" uniqKey="Debette S" first="Stephanie" last="Debette">Stephanie Debette</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Bordeaux University Hospital, Bordeaux University, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Bordeaux University Hospital, Bordeaux University, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Zedde, Marialuisa" sort="Zedde, Marialuisa" uniqKey="Zedde M" first="Marialuisa" last="Zedde">Marialuisa Zedde</name><affiliation wicri:level="1"><nlm:affiliation>Neurology Unit, Stroke Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurology Unit, Stroke Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia</wicri:regionArea><wicri:noRegion>Reggio Emilia</wicri:noRegion></affiliation></author><author><name sortKey="Pare, Guillaume" sort="Pare, Guillaume" uniqKey="Pare G" first="Guillaume" last="Pare">Guillaume Pare</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Ferro, Jose M" sort="Ferro, Jose M" uniqKey="Ferro J" first="José M" last="Ferro">José M. Ferro</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Thijs, Vincent" sort="Thijs, Vincent" uniqKey="Thijs V" first="Vincent" last="Thijs">Vincent Thijs</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Pezzini, Alessandro" sort="Pezzini, Alessandro" uniqKey="Pezzini A" first="Alessandro" last="Pezzini">Alessandro Pezzini</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Majersik, Jennifer J" sort="Majersik, Jennifer J" uniqKey="Majersik J" first="Jennifer J" last="Majersik">Jennifer J. Majersik</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, University of Utah, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Utah, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Martinelli, Ida" sort="Martinelli, Ida" uniqKey="Martinelli I" first="Ida" last="Martinelli">Ida Martinelli</name><affiliation wicri:level="3"><nlm:affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Coutinho, Jonathan M" sort="Coutinho, Jonathan M" uniqKey="Coutinho J" first="Jonathan M" last="Coutinho">Jonathan M. Coutinho</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Tatlisumak, Turgut" sort="Tatlisumak, Turgut" uniqKey="Tatlisumak T" first="Turgut" last="Tatlisumak">Turgut Tatlisumak</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Sharma, Pankaj" sort="Sharma, Pankaj" uniqKey="Sharma P" first="Pankaj" last="Sharma">Pankaj Sharma</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27881526</idno><idno type="pmid">27881526</idno><idno type="doi">10.1136/bmjopen-2016-012351</idno><idno type="wicri:Area/PubMed/Corpus">001643</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001643</idno><idno type="wicri:Area/PubMed/Curation">001621</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001621</idno><idno type="wicri:Area/PubMed/Checkpoint">001621</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001621</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.</title><author><name sortKey="Cotlarciuc, Ioana" sort="Cotlarciuc, Ioana" uniqKey="Cotlarciuc I" first="Ioana" last="Cotlarciuc">Ioana Cotlarciuc</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Marjot, Thomas" sort="Marjot, Thomas" uniqKey="Marjot T" first="Thomas" last="Marjot">Thomas Marjot</name><affiliation wicri:level="4"><nlm:affiliation>Department of Gastroenterology and Hepatology, University of Oxford, Oxford University Hospitals NHS Trust, Oxford, Oxfordshire, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Gastroenterology and Hepatology, University of Oxford, Oxford University Hospitals NHS Trust, Oxford, Oxfordshire</wicri:regionArea><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Khan, Muhammad S" sort="Khan, Muhammad S" uniqKey="Khan M" first="Muhammad S" last="Khan">Muhammad S. Khan</name><affiliation wicri:level="3"><nlm:affiliation>Department of Restorative Neuroscience, Imperial College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Restorative Neuroscience, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hiltunen, Sini" sort="Hiltunen, Sini" uniqKey="Hiltunen S" first="Sini" last="Hiltunen">Sini Hiltunen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Haapaniemi, Elena" sort="Haapaniemi, Elena" uniqKey="Haapaniemi E" first="Elena" last="Haapaniemi">Elena Haapaniemi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Metso, Tiina M" sort="Metso, Tiina M" uniqKey="Metso T" first="Tiina M" last="Metso">Tiina M. Metso</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Putaala, Jukka" sort="Putaala, Jukka" uniqKey="Putaala J" first="Jukka" last="Putaala">Jukka Putaala</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Zuurbier, Susanna M" sort="Zuurbier, Susanna M" uniqKey="Zuurbier S" first="Susanna M" last="Zuurbier">Susanna M. Zuurbier</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Brouwer, Matthijs C" sort="Brouwer, Matthijs C" uniqKey="Brouwer M" first="Matthijs C" last="Brouwer">Matthijs C. Brouwer</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Passamonti, Serena M" sort="Passamonti, Serena M" uniqKey="Passamonti S" first="Serena M" last="Passamonti">Serena M. Passamonti</name><affiliation wicri:level="3"><nlm:affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Bucciarelli, Paolo" sort="Bucciarelli, Paolo" uniqKey="Bucciarelli P" first="Paolo" last="Bucciarelli">Paolo Bucciarelli</name><affiliation wicri:level="3"><nlm:affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Pappalardo, Emanuela" sort="Pappalardo, Emanuela" uniqKey="Pappalardo E" first="Emanuela" last="Pappalardo">Emanuela Pappalardo</name><affiliation wicri:level="3"><nlm:affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Patel, Tasmin" sort="Patel, Tasmin" uniqKey="Patel T" first="Tasmin" last="Patel">Tasmin Patel</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Costa, Paolo" sort="Costa, Paolo" uniqKey="Costa P" first="Paolo" last="Costa">Paolo Costa</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Colombi, Marina" sort="Colombi, Marina" uniqKey="Colombi M" first="Marina" last="Colombi">Marina Colombi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Canhao, Patricia" sort="Canhao, Patricia" uniqKey="Canhao P" first="Patrícia" last="Canhão">Patrícia Canhão</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Tkach, Aleksander" sort="Tkach, Aleksander" uniqKey="Tkach A" first="Aleksander" last="Tkach">Aleksander Tkach</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, University of Utah, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Utah, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Santacroce, Rosa" sort="Santacroce, Rosa" uniqKey="Santacroce R" first="Rosa" last="Santacroce">Rosa Santacroce</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Margaglione, Maurizio" sort="Margaglione, Maurizio" uniqKey="Margaglione M" first="Maurizio" last="Margaglione">Maurizio Margaglione</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Favuzzi, Giovanni" sort="Favuzzi, Giovanni" uniqKey="Favuzzi G" first="Giovanni" last="Favuzzi">Giovanni Favuzzi</name><affiliation wicri:level="1"><nlm:affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Grandone, Elvira" sort="Grandone, Elvira" uniqKey="Grandone E" first="Elvira" last="Grandone">Elvira Grandone</name><affiliation wicri:level="1"><nlm:affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Colaizzo, Donatella" sort="Colaizzo, Donatella" uniqKey="Colaizzo D" first="Donatella" last="Colaizzo">Donatella Colaizzo</name><affiliation wicri:level="1"><nlm:affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Spengos, Kostas" sort="Spengos, Kostas" uniqKey="Spengos K" first="Kostas" last="Spengos">Kostas Spengos</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Arauz, Antonio" sort="Arauz, Antonio" uniqKey="Arauz A" first="Antonio" last="Arauz">Antonio Arauz</name><affiliation wicri:level="1"><nlm:affiliation>Stroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico.</nlm:affiliation><country xml:lang="fr">Mexique</country><wicri:regionArea>Stroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City</wicri:regionArea><wicri:noRegion>Mexico City</wicri:noRegion></affiliation></author><author><name sortKey="Hodge, Amanda" sort="Hodge, Amanda" uniqKey="Hodge A" first="Amanda" last="Hodge">Amanda Hodge</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Ditta, Reina" sort="Ditta, Reina" uniqKey="Ditta R" first="Reina" last="Ditta">Reina Ditta</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Debette, Stephanie" sort="Debette, Stephanie" uniqKey="Debette S" first="Stephanie" last="Debette">Stephanie Debette</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Bordeaux University Hospital, Bordeaux University, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Bordeaux University Hospital, Bordeaux University, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Zedde, Marialuisa" sort="Zedde, Marialuisa" uniqKey="Zedde M" first="Marialuisa" last="Zedde">Marialuisa Zedde</name><affiliation wicri:level="1"><nlm:affiliation>Neurology Unit, Stroke Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurology Unit, Stroke Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia</wicri:regionArea><wicri:noRegion>Reggio Emilia</wicri:noRegion></affiliation></author><author><name sortKey="Pare, Guillaume" sort="Pare, Guillaume" uniqKey="Pare G" first="Guillaume" last="Pare">Guillaume Pare</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Ferro, Jose M" sort="Ferro, Jose M" uniqKey="Ferro J" first="José M" last="Ferro">José M. Ferro</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Thijs, Vincent" sort="Thijs, Vincent" uniqKey="Thijs V" first="Vincent" last="Thijs">Vincent Thijs</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Pezzini, Alessandro" sort="Pezzini, Alessandro" uniqKey="Pezzini A" first="Alessandro" last="Pezzini">Alessandro Pezzini</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Majersik, Jennifer J" sort="Majersik, Jennifer J" uniqKey="Majersik J" first="Jennifer J" last="Majersik">Jennifer J. Majersik</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, University of Utah, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Utah, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Martinelli, Ida" sort="Martinelli, Ida" uniqKey="Martinelli I" first="Ida" last="Martinelli">Ida Martinelli</name><affiliation wicri:level="3"><nlm:affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Coutinho, Jonathan M" sort="Coutinho, Jonathan M" uniqKey="Coutinho J" first="Jonathan M" last="Coutinho">Jonathan M. Coutinho</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Tatlisumak, Turgut" sort="Tatlisumak, Turgut" uniqKey="Tatlisumak T" first="Turgut" last="Tatlisumak">Turgut Tatlisumak</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Sharma, Pankaj" sort="Sharma, Pankaj" uniqKey="Sharma P" first="Pankaj" last="Sharma">Pankaj Sharma</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author></analytic><series><title level="j">BMJ open</title><idno type="eISSN">2044-6055</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27881526</PMID><DateCreated><Year>2016</Year><Month>11</Month><Day>24</Day></DateCreated><DateRevised><Year>2017</Year><Month>02</Month><Day>24</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">2044-6055</ISSN><JournalIssue CitedMedium="Internet"><Volume>6</Volume><Issue>11</Issue><PubDate><Year>2016</Year><Month>Nov</Month><Day>22</Day></PubDate></JournalIssue><Title>BMJ open</Title><ISOAbbreviation>BMJ Open</ISOAbbreviation></Journal><ArticleTitle>Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.</ArticleTitle><Pagination><MedlinePgn>e012351</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/bmjopen-2016-012351</ELocationID><Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated.</AbstractText><AbstractText Label="METHODS AND ANALYSIS" NlmCategory="UNASSIGNED">To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease.</AbstractText><AbstractText Label="ETHICS AND DISSEMINATION" NlmCategory="UNASSIGNED">BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders.</AbstractText><CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Cotlarciuc</LastName><ForeName>Ioana</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marjot</LastName><ForeName>Thomas</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Gastroenterology and Hepatology, University of Oxford, Oxford University Hospitals NHS Trust, Oxford, Oxfordshire, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Khan</LastName><ForeName>Muhammad S</ForeName><Initials>MS</Initials><AffiliationInfo><Affiliation>Department of Restorative Neuroscience, Imperial College London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hiltunen</LastName><ForeName>Sini</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haapaniemi</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Metso</LastName><ForeName>Tiina M</ForeName><Initials>TM</Initials><AffiliationInfo><Affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Putaala</LastName><ForeName>Jukka</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zuurbier</LastName><ForeName>Susanna M</ForeName><Initials>SM</Initials><AffiliationInfo><Affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brouwer</LastName><ForeName>Matthijs C</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Passamonti</LastName><ForeName>Serena M</ForeName><Initials>SM</Initials><AffiliationInfo><Affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bucciarelli</LastName><ForeName>Paolo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pappalardo</LastName><ForeName>Emanuela</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Patel</LastName><ForeName>Tasmin</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Costa</LastName><ForeName>Paolo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Colombi</LastName><ForeName>Marina</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Canhão</LastName><ForeName>Patrícia</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tkach</LastName><ForeName>Aleksander</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Utah, Salt Lake City, Utah, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Santacroce</LastName><ForeName>Rosa</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Margaglione</LastName><ForeName>Maurizio</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Favuzzi</LastName><ForeName>Giovanni</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grandone</LastName><ForeName>Elvira</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Colaizzo</LastName><ForeName>Donatella</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Spengos</LastName><ForeName>Kostas</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Arauz</LastName><ForeName>Antonio</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Stroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hodge</LastName><ForeName>Amanda</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ditta</LastName><ForeName>Reina</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Debette</LastName><ForeName>Stephanie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology, Bordeaux University Hospital, Bordeaux University, Bordeaux, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zedde</LastName><ForeName>Marialuisa</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Neurology Unit, Stroke Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pare</LastName><ForeName>Guillaume</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ferro</LastName><ForeName>José M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thijs</LastName><ForeName>Vincent</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pezzini</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Majersik</LastName><ForeName>Jennifer J</ForeName><Initials>JJ</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Utah, Salt Lake City, Utah, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martinelli</LastName><ForeName>Ida</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coutinho</LastName><ForeName>Jonathan M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tatlisumak</LastName><ForeName>Turgut</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.</Affiliation></AffiliationInfo></Author><Author 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PubStatus="pubmed"><Year>2016</Year><Month>11</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>11</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27881526</ArticleId><ArticleId IdType="pii">bmjopen-2016-012351</ArticleId><ArticleId IdType="doi">10.1136/bmjopen-2016-012351</ArticleId><ArticleId IdType="pmc">PMC5128947</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>Canada</li><li>Finlande</li><li>France</li><li>Grèce</li><li>Italie</li><li>Mexique</li><li>Pays-Bas</li><li>Portugal</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Aquitaine</li><li>Attique (région)</li><li>Grand Londres</li><li>Hollande-Septentrionale</li><li>Lombardie</li><li>Nouvelle-Aquitaine</li><li>Ontario</li><li>Oxfordshire</li><li>Utah</li><li>Victoria (État)</li></region><settlement><li>Amsterdam</li><li>Athènes</li><li>Bordeaux</li><li>Hamilton (Ontario)</li><li>Londres</li><li>Melbourne</li><li>Milan</li><li>Oxford</li></settlement><orgName><li>Université McMaster</li><li>Université d'Amsterdam</li><li>Université d'Oxford</li><li>Université de Londres</li><li>Université de Melbourne</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Cotlarciuc, Ioana" sort="Cotlarciuc, Ioana" uniqKey="Cotlarciuc I" first="Ioana" last="Cotlarciuc">Ioana Cotlarciuc</name></region><name sortKey="Khan, Muhammad S" sort="Khan, Muhammad S" uniqKey="Khan M" first="Muhammad S" last="Khan">Muhammad S. Khan</name><name sortKey="Marjot, Thomas" sort="Marjot, Thomas" uniqKey="Marjot T" first="Thomas" last="Marjot">Thomas Marjot</name><name sortKey="Patel, Tasmin" sort="Patel, Tasmin" uniqKey="Patel T" first="Tasmin" last="Patel">Tasmin Patel</name><name sortKey="Sharma, Pankaj" sort="Sharma, Pankaj" uniqKey="Sharma P" first="Pankaj" last="Sharma">Pankaj Sharma</name></country><country name="Finlande"><noRegion><name sortKey="Hiltunen, Sini" sort="Hiltunen, Sini" uniqKey="Hiltunen S" first="Sini" last="Hiltunen">Sini Hiltunen</name></noRegion><name sortKey="Haapaniemi, Elena" sort="Haapaniemi, Elena" uniqKey="Haapaniemi E" first="Elena" last="Haapaniemi">Elena Haapaniemi</name><name sortKey="Metso, Tiina M" sort="Metso, Tiina M" uniqKey="Metso T" first="Tiina M" last="Metso">Tiina M. Metso</name><name sortKey="Putaala, Jukka" sort="Putaala, Jukka" uniqKey="Putaala J" first="Jukka" last="Putaala">Jukka Putaala</name><name sortKey="Tatlisumak, Turgut" sort="Tatlisumak, Turgut" uniqKey="Tatlisumak T" first="Turgut" last="Tatlisumak">Turgut Tatlisumak</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Zuurbier, Susanna M" sort="Zuurbier, Susanna M" uniqKey="Zuurbier S" first="Susanna M" last="Zuurbier">Susanna M. Zuurbier</name></region><name sortKey="Brouwer, Matthijs C" sort="Brouwer, Matthijs C" uniqKey="Brouwer M" first="Matthijs C" last="Brouwer">Matthijs C. Brouwer</name><name sortKey="Coutinho, Jonathan M" sort="Coutinho, Jonathan M" uniqKey="Coutinho J" first="Jonathan M" last="Coutinho">Jonathan M. Coutinho</name></country><country name="Italie"><region name="Lombardie"><name sortKey="Passamonti, Serena M" sort="Passamonti, Serena M" uniqKey="Passamonti S" first="Serena M" last="Passamonti">Serena M. 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Ferro</name></country><country name="États-Unis"><region name="Utah"><name sortKey="Tkach, Aleksander" sort="Tkach, Aleksander" uniqKey="Tkach A" first="Aleksander" last="Tkach">Aleksander Tkach</name></region><name sortKey="Majersik, Jennifer J" sort="Majersik, Jennifer J" uniqKey="Majersik J" first="Jennifer J" last="Majersik">Jennifer J. Majersik</name></country><country name="Grèce"><region name="Attique (région)"><name sortKey="Spengos, Kostas" sort="Spengos, Kostas" uniqKey="Spengos K" first="Kostas" last="Spengos">Kostas Spengos</name></region></country><country name="Mexique"><noRegion><name sortKey="Arauz, Antonio" sort="Arauz, Antonio" uniqKey="Arauz A" first="Antonio" last="Arauz">Antonio Arauz</name></noRegion></country><country name="Canada"><region name="Ontario"><name sortKey="Hodge, Amanda" sort="Hodge, Amanda" uniqKey="Hodge A" first="Amanda" last="Hodge">Amanda Hodge</name></region><name sortKey="Ditta, Reina" sort="Ditta, Reina" uniqKey="Ditta R" first="Reina" last="Ditta">Reina Ditta</name><name sortKey="Pare, Guillaume" sort="Pare, Guillaume" uniqKey="Pare G" first="Guillaume" last="Pare">Guillaume Pare</name></country><country name="France"><region name="Nouvelle-Aquitaine"><name sortKey="Debette, Stephanie" sort="Debette, Stephanie" uniqKey="Debette S" first="Stephanie" last="Debette">Stephanie Debette</name></region></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Thijs, Vincent" sort="Thijs, Vincent" uniqKey="Thijs V" first="Vincent" last="Thijs">Vincent Thijs</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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