Genomes and Genes
Affiliation: University of Rome Tor Vergata
- Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activityRoberto Massa
Department of Neurosciences, University of Rome Tor Vergata and IRCCS Fondazione S Lucia, Via Montpellier 1, I 00135 Rome, Italy
Neuromuscul Disord 19:837-40. 2009..TYMP/ECGF1 analysis detected two heterozygous mutations, including a novel missense mutation. These findings indicate that a partial loss of thymidine phosphorylase activity may induce a late-onset and incomplete MNGIE phenotype...
- Intracellular localization and isoform expression of the voltage-dependent anion channel (VDAC) in normal and dystrophic skeletal muscleR Massa
Dipartimento di Neuroscienze, Laboratorio di Medicina Molecolare, Universita di Roma Tor Vergata, Italy
J Muscle Res Cell Motil 21:433-42. 2000..This finding suggests a possible involvement of VDAC3 expression in the early pathogenic events of the mdx muscular dystrophy...
- Sural nerve without nerve fibers in leprous neuropathyRoberto Massa
Clinica Neurologica, Dipartimento di Neuroscienze, , Via di Tor Vergata 135, I-00133 Rome, Italy
Arch Neurol 59:306. 2002
- Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 geneRoberto Massa
Dipartimento di Neuroscienze, Università di Roma Tor Vergata and Fondazione Santa Lucia, Roma, Italy
Muscle Nerve 37:530-6. 2008....
- The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' musclesR Massa
Department of Neurosciences, Tor Vergata University of Rome, Via Montpellier 1, I 00133, Rome, Italy
Neuropathol Appl Neurobiol 36:275-84. 2010..The aim of the present work was therefore to assess ZNF9 protein expression in rat tissues and in human muscle, and ZNF9 subcellular distribution in normal and DM2 human muscles...
- Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2Valerio Pisani
Department of Neurosciences, Universita di Roma Tor Vergata, and IRCCS Fondazione Santa Lucia, Via Montpellier 1, I 00133, Rome, Italy
Muscle Nerve 38:1405-11. 2008..Thus, morphometric and fiber type-based histological analysis of muscle biopsies may help differentiate between DM1 and DM2 and guide molecular analysis...
- Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1ARoberto Massa
Dipartimento di Neuroscienze, Universita di Roma Tor Vergata, Via Montpellier 1, I 00133 Roma, Italy
Muscle Nerve 33:342-9. 2006..The upregulation of these receptors may play a role in the inhibition of myelination or in the promotion of recurrent demyelination and axonal damage...
- Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2)Annalisa Botta
Department of Biopathology, Tor Vergata University, Rome, Italy
Biochim Biophys Acta 1762:329-34. 2006..Our results indicate that the (CCTG)n expansion in the ZNF9 intron does not appear to have a direct consequence on the expression of the gene itself...
- Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patientsLeila Baghernajad Salehi
Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy
Genet Test 11:84-90. 2007..This study demonstrates that measurement of triplet expansions in patients' DNA can be considered as a useful tool for DM1 phenotype assessment and presymptomatic testing...
- Inverse correlation between VEGF and soluble VEGF receptor 2 in POEMS with AIDP responsive to intravenous immunoglobulinChiara Terracciano
Department of Neurosciences, Tor Vergata University of Rome and IRCCS Fondazione Santa Lucia, Rome, Italy
Muscle Nerve 42:445-8. 2010..sVEGFR2 reduction is a new finding in POEMS. IVIg treatment may benefit POEMS patients with acute neuropathy by downgrading VEGF release induced by inflammatory cytokines...
- Long-term outcome of thoracoscopic extended thymectomy for nonthymomatous myasthenia gravisEugenio Pompeo
Department of Thoracic Surgery, Myasthenia Gravis Unit, Policlinico Tor Vergata University, Rome, Italy
Eur J Cardiothorac Surg 36:164-9. 2009..The aim of this study was to analyze long-term (>5 years) results of thoracoscopic extended thymectomy in nonthymomatous MG...
- Nitrergic neurons make synapses on dual-input dendritic spines of neurons in the cerebral cortex and the striatum of the rat: implication for a postsynaptic action of nitric oxideG Sancesario
Department of Neuroscience, The University of Rome Tor Vergata, Via di Tor Vergata 135, 00133, Rome, Italy
Neuroscience 99:627-42. 2000....
- Subacute demyelinating polyneuropathy in B-cell lymphoma with IgM antibodies against glycolipid GD1bG A Marfia
Clinica Neurologica, Dipartimento di Neuroscienze, Universita di Roma Tor Vergata, Via Oxford 81, I 00133 Rome, Italy
Neurol Sci 26:355-7. 2005..The IgM type of these autoantibodies suggests that they represent all or part of the paraprotein produced by lymphoma cells...
- Peripheral nerve extracellular matrix remodeling in Charcot-Marie-Tooth type I diseaseCamilla Palumbo
Dipartimento di Medicina Sperimentale e Scienze Biochimiche, , Via di Tor Vergata 135, 00133 Rome, Italy
Acta Neuropathol (Berl) 104:287-96. 2002..Thus, compared with our pathological controls CMT1 seemed to determine the most extensive remodeling of peripheral nerve ECM...
- Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophyC Pachatz
Clinica Neurologica, Dipartimento di Neuroscienze, Universita di Roma Tor Vergata, Via Montpellier 1, 00133 Roma, Italy
Clin Neurophysiol 118:262-8. 2007..The aim of our study was to investigate the presence of subclinical upper motor neuron (UMN) dysfunction in this disease...
- Partial block of glycolysis in late-onset phosphofructokinase deficiency myopathyR Massa
Clinica Neurologica, Universita di Roma Tor Vergata, Italy
Acta Neuropathol 91:322-9. 1996....