- The empowerment of translational research: lessons from laminopathiesSara Benedetti
National Research Council of Italy, Institute of Molecular Genetics, IGM CNR, Unit of Bologna, Via Di Barbiano 1 10, 40136, Bologna, Italy
Orphanet J Rare Dis 7:37. 2012....
- Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotypeSimona Brioschi
Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
BMC Med Genet 13:73. 2012..Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial...
- Astrocyte-neuron interactions in neurological disordersG Ricci
Neurologic Clinic, University of Pisa, Pisa, Italy
J Biol Phys 35:317-36. 2009..Moreover, increasing evidence is stressing the emerging role of astrocyte dysfunction in the pathophysiology of neurological disorders, including neurodegenerative disease, stroke, epilepsy, migraine, and neuroinflammatory diseases...
- Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromesGiulia Ricci
Department of Neuroscience, University of Pisa, Pisa, Italy
Neuromuscul Disord 22:534-40. 2012..We discuss the hypothesis that the two genetic mutations may exert a synergistic effect in determining the phenotype observed in this patient...
- Metabolic myopathies: functional evaluation by different exercise testing approachesL Volpi
Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
Musculoskelet Surg 95:59-67. 2011..Exercise tests are, therefore, reliable screening tools. Here, we discuss the possible role of such exercise testing techniques in the diagnostic approach of a patient with suspected metabolic myopathy...
- A personal monitoring architecture to detect muscular fatigue in elderlyG Tartarisco
Institute of Clinical Physiology, National Research Council of Italy, Pisa, Italy
Neuromuscul Disord 22:S192-7. 2012..In this study, we report a novel, non-invasive assistive architecture for the elderly to assess muscle fatigue by biomedical sensors (surface electromyography) using wireless platform during exercise in an ergonomic platform...
- Pes cavus and hereditary neuropathies: when a relationship should be suspectedS Piazza
Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy
J Orthop Traumatol 11:195-201. 2010....
- Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplicationL Volpi
Department of Neuroscience, University of Pisa, Via Roma 67, 56126 Pisa, Italy
Neuromuscul Disord 20:512-6. 2010..We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy...