Publication
Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
| dc.contributor.author | Abbs, S. | |
| dc.contributor.author | Tuffery-Giraud, S. | |
| dc.contributor.author | Bakker, E. | |
| dc.contributor.author | Ferlini, A. | |
| dc.contributor.author | Sejersen, T. | |
| dc.contributor.author | Mueller, C.R. | |
| dc.date.accessioned | 2016-10-06T10:57:58Z | |
| dc.date.available | 2016-10-06T10:57:58Z | |
| dc.date.issued | 2010-06 | |
| dc.description | Meeting participants: Rosário dos Santos, Porto, Portugal | pt_PT |
| dc.description.abstract | Introduction: A meeting of 29 senior scientists from Europe, the USA, India and Australia, was held in Naarden, The Netherlands on November 14–16, 2008, to establish consensus Best Practice Guidelines for molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD/BMD). New therapeutic trials for DMD demand accurate diagnosis of the disorder, especially where the therapy is targeted towards specific mutations. These guidelines aim to help diagnostic laboratories attain that accuracy by describing the minimum standards for acceptable molecular diagnostic testing of DMD. For the different types of clinical referral received by a molecular diagnostic laboratory, the guidelines recommend the appropriate tests to be carried out, interpretation of the results and how those results should be reported. | pt_PT |
| dc.description.sponsorship | The workshop was jointly organised and sponsored by The European Molecular Genetics Quality Network (www.emqn.org); Euro- Gentest (www.eurogentest.org); EU Contract no. FP6-512148); TREAT-NMD (www.treat-nmd.org); EU Contract no. FP6-036825), and hosted by the European Neuro-Muscular Centre (www.enmc.org). | pt_PT |
| dc.identifier.citation | Neuromuscul Disord. 2010 Jun;20(6):422-7. doi: 10.1016/j.nmd.2010.04.005. Epub 2010 May 13. | pt_PT |
| dc.identifier.doi | 10.1016/j.nmd.2010.04.005 | pt_PT |
| dc.identifier.issn | 0960-8966 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4018 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Elsevier/World Muscle Society | pt_PT |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S0960896610001860 | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | pt_PT |
| dc.subject | Best Practice Guidelines | pt_PT |
| dc.subject | Duchenne/Becker Muscular Dystrophies | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Molecular Diagnostics | pt_PT |
| dc.title | Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 427 | pt_PT |
| oaire.citation.startPage | 422 | pt_PT |
| oaire.citation.title | Neuromuscular Disorders | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |