Titre : | 190th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1 : 11-13 May 2012 Naarden, The Netherlands |
Revue : | Neuromuscular disorders : NMD, 23, 7 |
Auteurs : | van der Pol WL, Auteur ; Talim B ; Pitt B ; von Au K |
Type de document : | Article |
Année de publication : | 2013 |
Pages : | p 602 |
Langues: | Anglais |
Mots-clés : | amyotrophie spinale avec détresse respiratoire type 1 ; base de données ; colloque ; diaphragme ; gène IGHMBP2 ; histoire naturelle de la maladie ; immunoglobuline ; insuffisance respiratoire ; modèle animal ; muscle squelettique ; paralysie ; prise en charge thérapeutique |
Mots-clés: | Spinal muscular atrophy with respiratory distress;Distal spinal muscular atrophy;ENMC workshop; |
Résumé : | The ENMC hosted a group of 20 participants including parents, clinicians, scientists and patient representatives involved in care or research of spinal muscular atrophy with respiratory distress (SMARD)/distal spinal muscular atrophy (DSMA) type 1 (OMIM#604320). Participants represented groups from France, Germany, Israel, Italy, the Netherlands, Turkey, the United Kingdom and the United States. The objectives of the meeting were to provide a clinical and scientific update on SMARD/DSMA1, to promote international collaborations and to explore the possibility of starting an international registry and biobank to support scientific endeavors. |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2013.04.004 / Pubmed : 23726377 |
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