Research Topics
Species | Giorgio TascaSummaryCountry: Italy Publications
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Detail Information
Publications
New phenotype and pathology features in MYH7-related distal myopathyGiorgio Tasca
Don Carlo Gnocchi ONLUS Foundation, Italy
Neuromuscul Disord 22:640-7. 2012..Our study significantly broadens the clinical and pathological spectrum of Laing distal myopathy. We suggest that MYH7 screening should be considered in undiagnosed late-onset distal myopathy or cytoplasmic body myopathy patients...- Muscle MRI in female carriers of dystrophinopathyG Tasca
Don Carlo Gnocchi ONLUS Foundation, Rome, Italy
Eur J Neurol 19:1256-60. 2012..We wanted to verify whether muscle magnetic resonance imaging (MRI) could identify a pattern of involvement suggestive of this condition and whether it was similar to that reported in Duchenne and Becker muscular dystrophy... 
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxiaGiorgio Tasca
Don Carlo Gnocchi ONLUS Foundation, Italy
Muscle Nerve 46:275-82. 2012..Mutations in the gene that encodes filamin C, FLNC, represent a rare cause of a distinctive type of myofibrillar myopathy (MFM)...- Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemiaGiorgio Tasca
Institute of Neurology, Catholic University School of Medicine, Rome, Italy
J Neurol Sci 284:203-4. 2009..We suggest that PML should be suspected in patients in whom immunosuppression is not obvious (i.e. not only in the setting of HIV infection or disseminated end-stage lymphomas) and involves defects in humoral immunity... - An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutationGiorgio Tasca
Institute of Neurology, Catholic University School of Medicine, Rome, Italy
Neuromuscul Disord 20:730-4. 2010..The R279W mutation in the TTN gene was excluded. This report expands the geographical region of incidence and encourages additional studies to clarify the genetic heterogeneity of the condition... - Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regenerationGiorgio Tasca
Institute of Neurology, Catholic University School of Medicine, Largo A Gemelli 8, 00168, Rome, Italy
Neurol Sci 32:171-4. 2011..We also describe the scarcity of muscle regeneration signs on the muscle biopsy with complete absence of alkaline phosphatase positivity in the endomysial and permysial connective tissue as a novel finding of this condition... - Muscle imaging findings in GNE myopathyGiorgio Tasca
Don Carlo Gnocchi ONLUS Foundation, Milan, Italy
J Neurol 259:1358-65. 2012..Although these findings need to be further validated in a larger cohort, we believe that the recognition of this pattern may be instrumental in the initial clinical assessment of patients with possible GNE myopathy... - Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy musclesGiorgio Tasca
Don Carlo Gnocchi ONLUS Foundation, Milan, Italy
PLoS ONE 7:e38779. 2012..We studied these conditions in order to obtain further information on the molecular mechanisms involved in the selective wasting of single muscles or muscle groups in this disease... - CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRIGiovanni Frisullo
Institute of Neurology, Department of Neurosciences, Catholic University of Rome, Largo Gemelli 8, 00168 Rome, Italy
J Clin Immunol 31:155-66. 2011..These data indicate that circulating activated immune cells, mainly CD8(+) T cells, may favour FSHD progression by promoting active phases of muscle inflammation... 
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progressionMario Pescatori
Institute of Neurology, Catholic University, L go A Gemelli 8, 0018, Rome, Italy
FASEB J 21:1210-26. 2007....- Muscle MRI in Becker muscular dystrophyGiorgio Tasca
Don Carlo Gnocchi ONLUS Foundation, Italy
Neuromuscul Disord 22:S100-6. 2012..Our results suggest that a distinct pattern of muscle involvement can be detected in BMD. The early identification of muscle changes in a proportion of asymptomatic patients may be useful as an additional tool in the diagnostic workup... - Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patientsCamilla Bernardini
Institute of Anatomy and Cell Biology, School of Medicine, Universita Cattolica del Sacro Cuore, Rome, Italy
PLoS ONE 8:e57739. 2013..e. common expression trends) among genes, whose function seems to be aberrantly activated during the progression of muscle atrophy... - Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsiesRoberta Morosetti
Department of Neurosciences, Catholic University School of Medicine, Largo A Gemelli 8, 00168 Rome, Italy
Stem Cells 25:3173-82. 2007..Disclosure of potential conflicts of interest is found at the end of this article... - Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortMichela Catteruccia
Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
Neuromuscul Disord 23:229-38. 2013..The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease... - An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patientsErnesto Pavoni
CNR Istituto di Chimica del Riconoscimento Molecolare c o Istituto di Biochimica e Biochimica Clinica, Catholic University, Rome, Italy
Open Neurol J 5:68-74. 2011..Our work reinforces the notion that a careful immunological and biochemical analysis of the two DG subunits should be always considered as a prerequisite for the identification of new putative cases of dystroglycanopathy...