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Portale Giovani Medici

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10/09/2009
AULA-MAGNA
14:30 - 17:00
A GENERAL OVERVIEW ON RARE DISEASES
Taruscio D. 
European Project for Rare Diseases National Plans Development (EUROPLAN) and the Italian actions on rare diseases
Bianchi F., A. Pierini 
The Tuscany network and registry for rare diseases
Gambardella A. 
The diagnosis of rare diseases in the south of Italy: experience of the CNR Institute of Neurosciences
Federico A. 
The clinical and laboratory approach to rare neurological diseases
Lyon-Caen O., F. Sedel 
Inborn errors of metabolism in adult neurology: a clinical approach
17:30 - 18:30
UPDATE ON MITOCHONDRIAL ENCEPHALONEUROMYOPHATIES
Vallat J.M. 
Neuropathies induced by mitochondriopathies
Zeviani M. 
Novel pathogenetic mechanisms in mitochondrial disorders
 
11/09/2009
AULA-MAGNA
09:00 - 10:00
UPDATE ON SPINOCEREBELLAR ATAXIAS (SCAS)
Brice A. 
Dominant ataxias
10:00 - 11:00
UPDATE ON SMALL VESSEL DISEASES
Dotti M.T. 
CADASIL: Siena experience
11:15 - 12:15
UPDATE ON LATE ONSET LEUKODYSTROPHIES
Baumann N. 
Metachromatic leukodystrophy and Krabbe disease
Giordana M.T. 
Adult-onset non-metabolic leukodystrophies
12:15 - 13:15
UPDATE ON AMYOTROPHIC LATERAL SCLEROSIS
Desnuelle C. 
Update on ALS care
Silani V. 
Seeking the causes of ALS: TDP-43 and FUS
14:30 - 15:30
UPDATE ON MYOPATHIES
Fardeau M. 
LGMD with Calpain 3 deficiency: past and present
Angelini C. 
Natural history of calpainopathy and dysferlinopathy
15:30 - 16:30
UPDATE ON CHARCOT-MARIE-TOOTH DISEASE
Dubourg O. 
Autosomal recessive Charcot-Marie-Tooth disease
Fabrizi G.M. 
Charcot-Marie-Tooth disease: (too) many genes for several neuropathies
Schenone A. 
CMT1A and 1B: from molecular pathomechanisms to therapy
16:30 - 17:30
UPDATE ON DYSIMMUNE CHRONIC NEUROPATHIES
Nobile-Orazio E. 
CIDP and its variants
Léger J.M. 
Neuropathies associated with monoclonal gammopathies
17:30 - 18:30
UPDATE ON TREATABLE NEUROMETABOLIC GENETIC DISEASES
Toscano A. 
Focus on Glycogenosis
Borsini W., S. Büchner 
Focus on Fabry's disease
Federico A. 
Focus on Cerebrotendinous Xanthomatosis
Sedel F. 
Focus on Niemann Pick C disease
Comi G.P. 
Gene therapy in Muscular dystrophy
 

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