1 Paediatric Neurology and Muscular Diseases Unit, Institute “G. Gaslini”, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy 2 Laboratory of Neurogenetics, Paediatric Neurology and Muscular Diseases Unit, Institute “G. Gaslini”, Genova, Italy 3 Epilepsy Centre, Department of Neurological Sciences, Federico II Univ...

1 Paediatric Neurology and Muscular Diseases Unit, Institute “G. Gaslini”, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy 2 Laboratory of Neurogenetics, Paediatric Neurology and Muscular Diseases Unit, Institute “G. Gaslini”, Genova, Italy 3 Epilepsy Centre, Department of Neurological Sciences, Federico II Univ...

One of the most dificult problems in modeling medical reasoning is to model a procedure for diagnosis about complications. In medical contexts, a patient sometimes suffers from several diseases and has complicated symptoms, which makes a differential diagnosis ve y dificult. For example, in the domain of headache, a patient suffering from migraine, (a vascular disease), may also suffer from mus...

Attempts to elucidate carbohydrate metabolism in muscular diseases have been made by a relatively large number of authors but the results obtained, often contradictory, seem to be difficult to classify in a cycle of metabolic disorders. Nevertheless disturbances of carbohydrate metabolism appear to play an important role in the pathogenesis of muscular diseases. In view of the key position of p...

Background Mutations in proteins can have deleterious effects on a protein’s stability and function, which ultimately causes particular diseases. Genetically inherited muscular dystrophies include several genetic diseases, which cause increasing weakness in muscles and disability to perform muscular functions progressively. Different neuro-muscular diseases are caused by different types of muta...

Duchenne muscular dystrophy (DMD) is a lethal X-linked disorder caused by mutations in the dystrophin gene, which encodes a cytoskeletal protein, dystrophin. Creatine kinase (CK) is generally used as a blood-based biomarker for muscular disease including DMD, but it is not always reliable since it is easily affected by stress to the body, such as exercise. Therefore, more reliable biomarkers of...

Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...

Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of ...