Title: | 190th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1 : 11-13 May 2012 Naarden, The Netherlands |
Journal : | Neuromuscular disorders : NMD, 23, 7 |
Authors: | van der Pol WL, Author ; Talim B ; Pitt B ; von Au K |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p 602 |
Languages: | English |
Keywords : | animal models ; database ; diaphragm ; disease natural history ; IGHMBP2 gene ; immunoglobulins ; medical treatment ; paralysis ; respiratory failure ; skeletal muscle ; spinal muscular atrophy with respiratory distress type 1 ; symposium |
Keywords: | Spinal muscular atrophy with respiratory distress;Distal spinal muscular atrophy;ENMC workshop; |
Abstract: | 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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