Other Abstracts

Other Abstracts
Networking
Kathrin Gramsch TREAT-NMD Clinical Trials Coordination Centre: Efficiency of networking 
Emma Heslop Engaging the Regulators to facilitate Antisense Oligonucleotide therapies for Duchenne Muscular Dystrophy  
Rosaline Quinlivan Cochrane reviews: the best evidence for treating neuromuscular diseases? 
Sarah Baumeister The EuroBioBank network: A vital link in translational research on neuromuscular disorders
Eduardo Tiazzano The GENAME project: an example of Spanish collaborative translational research in SMA
Sharon Hesterlee MDA Venture Philanthropy: A new approach to bridging the Valley of Death for Neuromuscular Diseases
Guenter Scheuerbrandt How to explain Duchenne research to Duchenne families
Jan Verschuuren ALADIN: All Against Duchenne In the Netherlands
Julaine Florence MDA Clinical Rsearch Network
Enrico Bertini TREAT-NMD and the ICC: A Fruitful Collaboration to Foster Clinical Trials and Research in SMA 

General
Carlo Borsato Can Physical Activity or Iinflamation Influence The Outcome of LGMD2B? 
Adrian Miller The genetic skeletal muscle channelopathies: Genotype-Phenotype correlation and longitudinal studies
Stefanie Bulst  Divergent effects of pathogenic mutations in primary desminopathy on oligomer assembly and multimerization of desmin revealed by single particle spectroscopy 
Natalia Garcia-Angarita  Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele 
Francesco Conti  Talin 1 and 2 are required for myoblast fusion, sarcomere assembly, and the maintenance of myotendinous junctions 
Marina Dusl  Limb-girdle congenital myasthenic syndrome with tubular aggregates - phenotypic clues for the entity 
Slobodanka Todorovic Normal Phenotype in a person with Spinal Muscular Atrophy Genotype
Adrian Miller Development and Characterisation of an in vitro Model of Sporadic Inclusion Body Myositis (IBM)
Nicolas Deconinck A new ACTA1 mutation in two unrelated sporadic cases of neonatal form of CFTD: insights on the pathological mechanisms.
Marina Mora Clinical and molecular characterization of patients with defective ? - dystroglycan glycosylation. 
 
12 Oct 2010