Résumé :
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Honorary lectures by the “Gaetano Conte Prize” winners Prof. M. Zeviani, ‘Disorders of mitochondrial DNA maintenance and integrity’, p. 32 Prof. K. Bushby, ‘Collaborating to bringing new therapies for neuromuscular disorders to the patient- the TREAT-NMD model’, p. 32-33 Dr G. Scheuerbrandt, ‘How to explain exon-51 skipping to Duchenne families?’, p. 33 Opening Lecture : Prof. King W. Engel, ‘Diagnosis and long-term treatment of ‘untreatable’ neuromuscular patients, an update’, p. 34 Session 1 “Facioscapulohumeral muscular dystrophy” Prof. R. Tawil, ‘FSHD clinical manifestations and molecular genetics: an update’, p. 34 Prof. J. Zidar, 'Heterogeneity and atypical phenotypes in patients with facioscapulohumeral muscular dystrophy”, p. 35 Dr S. Sacconi, ‘High frequency of hypomethylation in patients with FSHD-like phenotype’, p. 40 Dr J Vilchez, ‘Phenotypic spectrum of Laing distal myopathy. Study of an endemic focus in La Safor, Valencia, Spain’, p. 40 Session 2 “Mitochondrial myopathies” Prof. M. Zeviani, ‘The devil in a bottle: a sulfurous conundrum in a mitochondrial disease’, p. 35 Prof. C. Angelini, ‘Mitochondrial disorders of the nuclear genome’, p. 36 Dr T. Kyriakides, ‘The role of apoptosis in Mitochondrial encephalomyopathies’, p. 36 Dr J. Schaefer, ‘Myopathic coenzyme Q10 deficiency’, p. 41 Session 3 “Statins and acquired myopathies” Prof. D. Hilton-Jones, ‘Statins and muscle disease’, p. 37 Prof. F. Mastaglia, ‘Sporadic inclusion body myositis: prevalence, phenotype and influence of the MHC’, p. 37 Dr K. Kleopa, ‘The effects of CMT1X mutations in myelinating cells’, p. 41 Dr A. Kochanski, ‘A wide spectrum of phenotypes in recessive forms of Charcot-Marie-Tooth disorders with known and unknown etiology in Poland’, p. 41-42 Session 4 “Laminopathies and cardiomyopathies” Prof. F. Muntoni, ‘Laminopathies in childhood: from Emery-Dreifuss muscular dystrophy to severe congenital variants’, p. 37-38 Prof. L. Politano, ‘Cardiomyopathies and muscular dystrophies’, p. 38 Dr E. Abdel-Salam, ‘Markers for degeneration and regeneration in blood of Duchenne muscular dystrophy’, p. 42 Dr L. Papathanasiou, ‘Examining the lower orbicularis oculi muscle reduces the number of false negative results with respect to myasthenia gravis diagnosis: a stimulated single fiber EMG study’, p. 42 Session 5 “Update on myopathy therapeutic approaches” Prof. L. Middleton, ‘Genetic and environmental factors in Amyotrophic lateral Sclerosis’, p. 38-39 Prof. V. Nigro, ‘Muscular dystrophy and cardiomyopathy rescue in BIO14.6 hamster following single or double AAV treatments’, p. 39 Prof. J. Howell, ‘Investigating valproate as a treatment for McArdle’s disease’, p. 42-43 Prof. F. Hentati, ‘Clinical and genetic aspects of LGMD2 in Tunisia' Poster presentations I. Corsi, 'Juvenile myasthenia gravis : genetic aspects', p. 44 P. Koutsou, 'Friedreich's ataxia carrier screening in the population originating from the Paphos district of Cyprus', p. 44 C. Votsi, 'Investigation of the spinocerebellar ataxia type 10 mutation in the Cypriot population', p. 45 C. Votsi, 'Investigation of Cypriot families with autosomal recessive spinocerebellar ataxia (arsca) by linkage analysis at known arsca genes/loci', p. 45 A.K. Kleopas, 'Diagnosis and treatment of myasthenia gravis in Cyprus', p. 45-46 K. Kyriacou, 'Ultrastructural abnormalities in muscle biopsies of patients with dysferlin deficiency', p. 46 A. Georghiou, 'Huntington's disease in the Cypriot population : direct molecular diagnostic since 1994', p. 46-47 P. Nicolaou, 'Molecular genetic studies of Charcot-Marie-Tooth disease in the Cypriot population', p. 47
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