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Autor
Bassez, Guillaume 2 Bleyenheuft, Corinne 2 Campbell, Craig 2 Cossette, Louise 2 Dai, Yi 2 Dawkins, Hugh 2 Dogan, Celine 2 El Sherif, Rasha 2 Fossati, Barbara 2 Graham, Caroline 2 Hilbert, James 2 Jimenez-Moreno, Aura Cecilia 2 Kastreva, Kristinia 2 Kimura, En 2 Korngut, Lawrence 2 Kostera-Pruszczyk, Anna 2 Lindberg, Christopher 2 Lindvall, Bjorn 2 Lochmüller, Hanns 2 Luebbe, Elizabeth 2
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Pracoviště
Centre de recherche du CHU de Québec ... 2 Centro de Investigación Biomédica en ... 2 Department of Functional Diagnostic S... 2 Department of Neurology Alexandrovska... 2 Department of Neurology Medical Unive... 2 Department of Neurology Peking Union ... 2 Department of Neurology University of... 2 Department of Neuropediatrics and Mus... 2 Department of Promoting Clinical Tria... 2 Institute of Genetic Medicine Newcast... 2 Muscular Dystrophy Association Chicag... 2 Neurology Auckland City Hospital Priv... 2 Neurology Clinic School of Medicine U... 2 Neuromuscular and Neuro genetics Unit... 2 Neuromuscular disorders Unit Hospital... 2 Office of Population Health Genomics ... 2 Radboud University Nijmegen Medical C... 2 Scientific Institute of Public Health... 2 U O Neurology and Stroke Unit IRCCS P... 2 University Hospital Prague Motol and ... 2
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Autor
Bassez, Guillaume 2 Bleyenheuft, Corinne 2 Campbell, Craig 2 Cossette, Louise 2 Dai, Yi 2 Dawkins, Hugh 2 Dogan, Celine 2 El Sherif, Rasha 2 Fossati, Barbara 2 Graham, Caroline 2 Hilbert, James 2 Jimenez-Moreno, Aura Cecilia 2 Kastreva, Kristinia 2 Kimura, En 2 Korngut, Lawrence 2 Kostera-Pruszczyk, Anna 2 Lindberg, Christopher 2 Lindvall, Bjorn 2 Lochmüller, Hanns 2 Luebbe, Elizabeth 2
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Pracoviště
Centre de recherche du CHU de Québec ... 2 Centro de Investigación Biomédica en ... 2 Department of Functional Diagnostic S... 2 Department of Neurology Alexandrovska... 2 Department of Neurology Medical Unive... 2 Department of Neurology Peking Union ... 2 Department of Neurology University of... 2 Department of Neuropediatrics and Mus... 2 Department of Promoting Clinical Tria... 2 Institute of Genetic Medicine Newcast... 2 Muscular Dystrophy Association Chicag... 2 Neurology Auckland City Hospital Priv... 2 Neurology Clinic School of Medicine U... 2 Neuromuscular and Neuro genetics Unit... 2 Neuromuscular disorders Unit Hospital... 2 Office of Population Health Genomics ... 2 Radboud University Nijmegen Medical C... 2 Scientific Institute of Public Health... 2 U O Neurology and Stroke Unit IRCCS P... 2 University Hospital Prague Motol and ... 2
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NLK
BioMedCentral
od 2006-12-01
BioMedCentral Open Access
od 2006
Directory of Open Access Journals
od 2006
Free Medical Journals
od 2006
PubMed Central
od 2006
Europe PubMed Central
od 2006
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2006-01-01
Open Access Digital Library
od 2006-01-01
Medline Complete (EBSCOhost)
od 2006-01-01
Health & Medicine (ProQuest)
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2006
Springer Nature OA/Free Journals
od 2006-12-01
PubMed
31416449
DOI
10.1186/s13023-019-1157-7
Knihovny.cz E-zdroje
The original version of this article [1] unfortunately included an error to an author's name. Author Jordi Díaz-Manera was erroneously presented as Jorge Alberto Diaz Manera. The correct author name has been included in the author list of this Correction article.
- Publikační typ
- tisková chyba MeSH
NLK
BioMedCentral
od 2006-12-01
BioMedCentral Open Access
od 2006
Directory of Open Access Journals
od 2006
Free Medical Journals
od 2006
PubMed Central
od 2006
Europe PubMed Central
od 2006
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2006-01-01
Open Access Digital Library
od 2006-01-01
Medline Complete (EBSCOhost)
od 2006-01-01
Health & Medicine (ProQuest)
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2006
Springer Nature OA/Free Journals
od 2006-12-01
PubMed
30185236
DOI
10.1186/s13023-018-0889-0
Knihovny.cz E-zdroje
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.
- MeSH
- klinické zkoušky jako téma MeSH
- lidé MeSH
- myotonická dystrofie * MeSH
- registrace * MeSH
- výchova a vzdělávání MeSH
- vzácné nemoci * MeSH
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