2005
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Scientific program

Wednesday, May 11th

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GENES AND NEUROMUSCULAR DISEASES (I)
08h30
Plenary lecture

Nicolas Lévy
Laminopathies : one gene, several diseases (1h).

Moderator :
Gisèle Bonne (Grand Auditorium)



09h30
11h00
Parallel symposia

" Myotonic dystrophies " (1h30)

Geneviève Gourdon
Myotonic dystrophies : from DNA repair to RNA metabolism and symptoms

Gillian Butler-Browne
Myogenic defect in myotonic dystrophy

Jack Puymirat
RNA-based gene therapy for dominantly inherited diseases : the example of myotonic dystrophy

Tetsuo Ashizawa
CTG repeat expansion and replicative senescence in myotonic dystrophy Type 1 (DM1)

Moderators : Claudine Junien, Jean-Pierre Bouchard (Amphi 800)


" Facio-scapulo-humeral muscular dystrophy " (1h30)

Rossella Tupler
A mouse model of FSHD

Silvere Van der Maarel
Genetic and epigenetic studies of FSHD

Claude Desnuelle
Prospects of autologous cell therapy in FSHD

George Padberg
Therapies in FSHD

Moderators : Jean-Marie Mussini, Alberto Luis Rosa


" Congenital muscular dystrophies " (1h30)

Thomas Voit
Congenital muscular dystrophies with structural malformation of the central nervous system

Pascale Guicheney
Recent advances in SEPN-related myopathy and Ullrich congenital muscular dystrophy

Francesco Muntoni
Congenital muscular dystrophies at the milder end of the "dystroglycanopathy" spectrum

Tamao Endo
Defective glycosylation in congenital muscular dystrophies

Moderators : Brigitte Estournet, Victor Dubowitz (Grand Auditorium)


Top11h00 - 11h45 : Break and Posters



11h45
Plenary lecture

Michel Ladzunski
Sensing with ionic channels

Moderator : Joël Nargeot (Grand Auditorium)



Haut de page12h30 : Lunch


Top13h30 - 15h00 : Posters



15h00
16h15
Plenary symposium

" Channelopathies " (1h15)

Bertrand Fontaine
Muscular ion channel disorders

Denis Escande
Muscular fibrosis resulting from genetic invalidation of SCN5A

Laurent Bernheim
Control of human myoblast differentiation by membrane potential and ionic channel activity

Bénédicte Dargent
organizing the voltage-gated sodium channels in discrete sites

Moderators :
Olivier Benvéniste, Guy Raymond (Grand Auditorium)



16h15
17h30
Parallel symposia

" Nucleopathies " (1h15)

Gisèle Bonne
clinical, genetic and functional heterogeneity in laminopathies affecting striated muscles

Howard Worman
Nuclear envelope and the regulation of signal transduction

Colin Stewart
Mutations in the mouse nuclear lamina, resulting in muscular dystrophy and cardiomyopathy

Moderators : Alan Emery, Nigel Laing (Amphi 800)


" Spinal muscular atrophies " (1h15)

Judith Melki
Towards an understanding of the pathophysiology and the develoment of therapeutics in spinal muscular atrophy (SMA)

Georg Haase
Motor neuron degeneration linked to alsin and Tbce mutations

Enrico Bertini
Outcome measures and treatment of spinal muscular atrophy

Moderators : Annie Barois, Jean Pouget (Grand Auditorium)



17h30
Plenary lecture

Gideon Dreyfuss
Molecular functions of the survival of motor neurons complex and spinal muscular atrophy

Moderator
: Roberto Bruzzone (Grand Auditorium)(1h).

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