Genomes and Genes
Affiliation: University of Rome Tor Vergata
- Association of HLA-DQB1∗05:02 and DRB1∗16 Alleles with Late-Onset, Nonthymomatous, AChR-Ab-Positive Myasthenia GravisManuela Testi
Laboratory of Immunogenetics, IME Foundation at Tor Vergata Polyclinic Hospital, 00133 Rome, Italy
Autoimmune Dis 2012:541760. 2012..Therefore, the HLA allele DQB1∗05:02 might be considered as a susceptibility marker for LOAb among Italians...
- 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...
- 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...
- 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, Universita di Roma Tor Vergata, Via di Tor Vergata 135, I 00133 Rome, Italy
Arch Neurol 59:306. 2002
- 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...
- 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...
- 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...
- An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, ItalyNicola Vanacore
National Centre for Epidemiology, Surveillance and Health Promotion, National Institute of Health, Rome, Italy
Neuroepidemiology 46:191-7. 2016..Our aim was to estimate the minimum prevalence of DM1 and DM2 in Italy in the Rome province, applying standards of descriptive epidemiology...
- Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factorsMaria Laura Ester Bianchi
Department of Geriatrics, Neuroscience and Orthopedics, Universita Cattolica del Sacro Cuore, Largo F Vito 1, 00168, Rome, Italy
J Neurol 263:492-8. 2016..Our observation of an association between thyroid diseases in women and cancer development needs confirmation...
- Sleep disorders in spinal and bulbar muscular atrophy (Kennedy's disease): a controlled polysomnographic and self-reported questionnaires studyAndrea Romigi
Neurophysiopathology Unit, Department of Systems Medicine, Sleep Medicine Centre, Tor Vergata University and Hospital, Rome, Italy
J Neurol 261:889-93. 2014..OSA is the most common sleep disorder in SBMA. The sleep impairment could be induced both by OSA or/and the neurodegenerative processes involving crucial areas regulating the sleep-wake cycle...
- Vitamin D deficiency in myotonic dystrophy type 1Chiara Terracciano
Neuromuscular Center, Division of Neurology, Department of Systems Medicine, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
J Neurol 260:2330-4. 2013..Oral supplementation with vitamin D should be considered in DM1 and might mitigate muscle weakness...
- 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...
- 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...
- 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....
- Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological studyFrancesco Bombelli
Neuromuscular and Neurological Rare Diseases Centre, Neurology and Neurophysiology Unit, S Camillo Forlanini Hospital, C Gianicolense, 87 00152, Rome, Italy
Clin Neurol Neurosurg 150:84-88. 2016..However, neuromuscular junction (NMJ) abnormalities could play an additional role in determining these manifestations. We aimed to document the possible NMJ involvement in DM1...
- Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasisElena Campione
Department of Systems Medicine, Division of Dermatology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy
Neuromuscul Disord . 2016..Skin examination is highly informative in these patients and reveals features suggestive of premature aging and impaired vitamin D homeostasis...
- Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutationRoberto Massa
Department of Systems Medicine Neurology, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy
Muscle Nerve 53:644-8. 2016..We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment...
- Identification and characterization of 5' CCG interruptions in complex DMPK expanded allelesAnnalisa Botta
Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy
Eur J Hum Genet . 2016..European Journal of Human Genetics advance online publication, 23 November 2016; doi:10.1038/ejhg.2016.148...
- Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease)Camilla Rocchi
Department of Neuroscience, University of Rome Tor Vergata, 00133 Rome, Italy
Muscle Nerve 44:737-40. 2011..Autonomic nervous system involvement (ANS) is not considered part of SBMA. The aim of this study was to assess autonomic cardiovascular function in 5 SBMA patients...
- ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth diseaseCeleste Montecchiani
1 Laboratorio di Neurogenetica, CERC IRCCS Santa Lucia, Rome, Italy
Brain 139:73-85. 2016..Our results indicate that ALS5/SPG11/KIAA1840 is the causative gene of a wide spectrum of clinical features, including autosomal recessive axonal Charcot-Marie-Tooth disease...
- 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...
- Paucisymptomatic Marchiafava-Bignami disease with relevant diffusion-weighted MRI lesionsMaria Giovanna Sarpa
1Department of Neuroscience, University of Rome Tor Vergata, Rome, Italy
Int J Neurosci 123:738-40. 2013....
- Peripheral nerve extracellular matrix remodeling in Charcot-Marie-Tooth type I diseaseCamilla Palumbo
Dipartimento di Medicina Sperimentale e Scienze Biochimiche, Universita di Roma Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy
Acta Neuropathol 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....