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description Publicationkeyboard_double_arrow_right Article 2018 Netherlands, Spain, CanadaSpringer Science and Business Media LLC EC | RD-CONNECT, NIH | Disease Progression in My..., UKRI | Novel pathogenic mechanis... +1 projectsEC| RD-CONNECT ,NIH| Disease Progression in Myotonic Dystrophy ,UKRI| Novel pathogenic mechanisms implicated in defects of neuromuscular transmission ,MESTD| Research on molecular-genetic, pathohistological and biochemical characteristics of neuromuscular disordersWood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne; Campbell, Craig; Cossette, Louise; Jimenez-Moreno, Aura Cecilia; Dai, Yi; Dawkins, Hugh; Manera, Jorge Alberto Diaz; Dogan, Celine; El Sherif, Rasha; Fossati, Barbara; Graham, Caroline; Hilbert, James; Kastreva, Kristinia; Kimura, En; Korngut, Lawrence; Kostera-Pruszczyk, Anna; Lindberg, Christopher; Lindvall, Bjorn; Luebbe, Elizabeth; Lusakowska, Anna; Mazanec, Radim; Meola, Giovani; Orlando, Liannna; Takahashi, Masanori P; Peric, Stojan; Puymirat, Jack; Rakocevic-Stojanovic, Vidosava; Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; van Engelen, Baziel; Vohanka, Stanislav; Lochmüller, Hanns;pmc: PMC6126043 , PMC6696685
Background: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania). Results: The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over €200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact. Conclusions: The community should consider how to maximise this collective resource in future therapeutic programmes. This work has received funding from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement n° 305444 “RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research”, Hanns Lochmüller has received funding from the Medical Research Council UK (grant reference G1002274, grant ID 98482).
Europe PubMed Centra... arrow_drop_down Radboud Repository; Orphanet Journal of Rare DiseasesOther literature type . Article . 2018License: CC BYadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu17 citations 17 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Radboud Repository; Orphanet Journal of Rare DiseasesOther literature type . Article . 2018License: CC BYadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type 2022 CanadaScholarship@Western UKRI | A Biological Framework of..., SSHRC, ANR | PSL +4 projectsUKRI| A Biological Framework of Reduced Physical and Social Activity across the Lifespan ,SSHRC ,ANR| PSL ,ARC| Discovery Projects - Grant ID: DP180102384 ,ANR| CHESS ,ANR| FrontCog ,MESTD| Social Transformations in Processes of European Integration: A Multidisciplinary ApproachVan Bavel, Jay J.; Cichocka, Aleksandra; Capraro, Valerio; Sjåstad, Hallgeir; Nezlek, John B.; Pavlović, Tomislav; Alfano, Mark; Gelfand, Michele J.; Azevedo, Flavio; Birtel, Michèle D.; Cislak, Aleksandra; Lockwood, Patricia L.; Ross, Robert Malcolm; Abts, Koen; Agadullina, Elena; Aruta, John Jamir Benzon; Besharati, Sahba Nomvula; Bor, Alexander; Choma, Becky L.; Crabtree, Charles David; Cunningham, William A.; De, Koustav; Ejaz, Waqas; Elbaek, Christian T.; Findor, Andrej; Flichtentrei, Daniel; Franc, Renata; Gjoneska, Biljana; Gruber, June; Gualda, Estrella;Changing collective behaviour and supporting non-pharmaceutical interventions is an important component in mitigating virus transmission during a pandemic. In a large international collaboration (Study 1, N = 49,968 across 67 countries), we investigated self-reported factors associated with public health behaviours (e.g., spatial distancing and stricter hygiene) and endorsed public policy interventions (e.g., closing bars and restaurants) during the early stage of the COVID-19 pandemic (April-May 2020). Respondents who reported identifying more strongly with their nation consistently reported greater engagement in public health behaviours and support for public health policies. Results were similar for representative and non-representative national samples. Study 2 (N = 42 countries) conceptually replicated the central finding using aggregate indices of national identity (obtained using the World Values Survey) and a measure of actual behaviour change during the pandemic (obtained from Google mobility reports). Higher levels of national identification prior to the pandemic predicted lower mobility during the early stage of the pandemic (r = −0.40). We discuss the potential implications of links between national identity, leadership, and public health for managing COVID-19 and future pandemics.
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For further information contact us at helpdesk@openaire.eu0 citations 0 popularity Average influence Average impulse Average Powered by BIP!more_vert All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=od______1548::746ef44d38976d875b8423c4c459fcef&type=result"></script>'); --> </script>
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description Publicationkeyboard_double_arrow_right Article 2018 Netherlands, Spain, CanadaSpringer Science and Business Media LLC EC | RD-CONNECT, NIH | Disease Progression in My..., UKRI | Novel pathogenic mechanis... +1 projectsEC| RD-CONNECT ,NIH| Disease Progression in Myotonic Dystrophy ,UKRI| Novel pathogenic mechanisms implicated in defects of neuromuscular transmission ,MESTD| Research on molecular-genetic, pathohistological and biochemical characteristics of neuromuscular disordersWood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne; Campbell, Craig; Cossette, Louise; Jimenez-Moreno, Aura Cecilia; Dai, Yi; Dawkins, Hugh; Manera, Jorge Alberto Diaz; Dogan, Celine; El Sherif, Rasha; Fossati, Barbara; Graham, Caroline; Hilbert, James; Kastreva, Kristinia; Kimura, En; Korngut, Lawrence; Kostera-Pruszczyk, Anna; Lindberg, Christopher; Lindvall, Bjorn; Luebbe, Elizabeth; Lusakowska, Anna; Mazanec, Radim; Meola, Giovani; Orlando, Liannna; Takahashi, Masanori P; Peric, Stojan; Puymirat, Jack; Rakocevic-Stojanovic, Vidosava; Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; van Engelen, Baziel; Vohanka, Stanislav; Lochmüller, Hanns;pmc: PMC6126043 , PMC6696685
Background: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania). Results: The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over €200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact. Conclusions: The community should consider how to maximise this collective resource in future therapeutic programmes. This work has received funding from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement n° 305444 “RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research”, Hanns Lochmüller has received funding from the Medical Research Council UK (grant reference G1002274, grant ID 98482).
Europe PubMed Centra... arrow_drop_down Radboud Repository; Orphanet Journal of Rare DiseasesOther literature type . Article . 2018License: CC BYadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1186/s13023-018-0889-0&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu17 citations 17 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Radboud Repository; Orphanet Journal of Rare DiseasesOther literature type . Article . 2018License: CC BYadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1186/s13023-018-0889-0&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type 2022 CanadaScholarship@Western UKRI | A Biological Framework of..., SSHRC, ANR | PSL +4 projectsUKRI| A Biological Framework of Reduced Physical and Social Activity across the Lifespan ,SSHRC ,ANR| PSL ,ARC| Discovery Projects - Grant ID: DP180102384 ,ANR| CHESS ,ANR| FrontCog ,MESTD| Social Transformations in Processes of European Integration: A Multidisciplinary ApproachVan Bavel, Jay J.; Cichocka, Aleksandra; Capraro, Valerio; Sjåstad, Hallgeir; Nezlek, John B.; Pavlović, Tomislav; Alfano, Mark; Gelfand, Michele J.; Azevedo, Flavio; Birtel, Michèle D.; Cislak, Aleksandra; Lockwood, Patricia L.; Ross, Robert Malcolm; Abts, Koen; Agadullina, Elena; Aruta, John Jamir Benzon; Besharati, Sahba Nomvula; Bor, Alexander; Choma, Becky L.; Crabtree, Charles David; Cunningham, William A.; De, Koustav; Ejaz, Waqas; Elbaek, Christian T.; Findor, Andrej; Flichtentrei, Daniel; Franc, Renata; Gjoneska, Biljana; Gruber, June; Gualda, Estrella;Changing collective behaviour and supporting non-pharmaceutical interventions is an important component in mitigating virus transmission during a pandemic. In a large international collaboration (Study 1, N = 49,968 across 67 countries), we investigated self-reported factors associated with public health behaviours (e.g., spatial distancing and stricter hygiene) and endorsed public policy interventions (e.g., closing bars and restaurants) during the early stage of the COVID-19 pandemic (April-May 2020). Respondents who reported identifying more strongly with their nation consistently reported greater engagement in public health behaviours and support for public health policies. Results were similar for representative and non-representative national samples. Study 2 (N = 42 countries) conceptually replicated the central finding using aggregate indices of national identity (obtained using the World Values Survey) and a measure of actual behaviour change during the pandemic (obtained from Google mobility reports). Higher levels of national identification prior to the pandemic predicted lower mobility during the early stage of the pandemic (r = −0.40). We discuss the potential implications of links between national identity, leadership, and public health for managing COVID-19 and future pandemics.
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For further information contact us at helpdesk@openaire.eu0 citations 0 popularity Average influence Average impulse Average Powered by BIP!more_vert All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=od______1548::746ef44d38976d875b8423c4c459fcef&type=result"></script>'); --> </script>
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