Genomes and Genes
Affiliation: University of Siena
- Uncommon findings in idiopathic hypertrophic cranial pachymeningitisSimone Rossi
Dipartimento di Neuroscienze, Sezione Neurologia, Università di Siena Azienda Ospedaliera, Universitaria Senese Policlinico Santa Maria alle Scotte, Viale Bracci, 53100, Siena, Italy
J Neurol 251:548-55. 2004....
- Genotype-phenotype correlation in Pompe disease, a step forwardPaola De Filippi
Department of Molecular Medicine, University of Pavia, Pavia, Italy
Orphanet J Rare Dis 9:102. 2014..Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family...
- Multifocal neural conduction impairment in forestry workers exposed and not exposed to vibrationF Giannini
Istituto di Clinica delle Malattie Nervose e Mentali, Universita di Siena, Policlinico Le Scotte, Italy
Clin Neurophysiol 110:1276-83. 1999..The aim of the study was to assess peripheral neural involvement induced by exposure to hand-arm vibration...
- Thalidomide-induced neuropathy: a ganglionopathy?F Giannini
Department of Neurosciences, Neurology Unit, University of Siena, Italy
Neurology 60:877-8. 2003
- A new clinical scale of carpal tunnel syndrome: validation of the measurement and clinical-neurophysiological assessmentF Giannini
Dipartimento di Neuroscienze, Sezione di Neurologia, Universita di Siena, Policlinico Le Scotte, 53100 Siena, Italy
Clin Neurophysiol 113:71-7. 2002..The first is a score determined by clinical history and objective findings. The second evaluates the presence/absence of pain as a dichotomous categorical score...
- D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findingsFabio Giannini
Departments of Neurosciences, University of Siena, Italy
Amyotroph Lateral Scler 11:216-9. 2010..One patient experienced early sensory involvement, confirmed by nerve biopsy. We review sensory symptoms in SOD1 ALS and discuss its possible origin in D90A heterozygous patients...
- G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotypeStefania Battistini
Department of Neuroscience, University of Siena, Italy
Amyotroph Lateral Scler 11:210-5. 2010..In addition, our findings strengthen the data reported previously and indicate that the G41S mutation is consistently associated with a uniform and dramatic, fast-progressing phenotype...
- SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian studyStefania Battistini
Dept of Neuroscience, University of Siena, Siena, Italy
J Neurol 252:782-8. 2005..No SOD1 gene mutations have been identified in SALS cases. Within FALS cases, The most frequent mutation was the G41S identified in four FALS...
- A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALSClaudia Ricci
Department of Neuroscience, University of Siena, Italy
Amyotroph Lateral Scler 11:481-5. 2010..This property can result in a failure of the protein to fold and generation of toxic intracellular aggregates, suggesting a pathogenic role for the mutation...
- No association of MTHFR c.677C>T variant with sporadic ALS in an Italian populationClaudia Ricci
Department of Neurological, Neurosurgical and Behavioural Sciences, Neurology Section, University of Siena, Siena, Italy
Neurobiol Aging 33:208.e7-8. 2012..677C>T variant alone or in combination with PON1 polymorphisms. Our negative results suggest that the MTHFR c.677C>T polymorphism is not a risk factor for ALS in the Italian population...
- Lack of association of PON polymorphisms with sporadic ALS in an Italian populationClaudia Ricci
Department of Neuroscience Neurology Section, University of Siena, Siena, Italy
Neurobiol Aging 32:552.e7-13. 2011..No significant association was observed at genotype and haplotype level. Our data suggest that PON polymorphisms are not involved in ALS pathogenesis in an Italian population...
- Incidence of ulnar neuropathy at the elbow in the province of Siena (Italy)Mauro Mondelli
EMG Service, ASL 7 Via Pian d Ovile, 9, 53100 Siena, Italy
J Neurol Sci 234:5-10. 2005....
- Rhabdomyolysis in an elderly multitreated patient: multiple drug interactions after statin withdrawalFederica Ginanneschi
Department of Medical Sciences, Surgical Sciences and Neurosciences, Siena University, 53100 Siena, Italy
J Neurol Sci 336:284-7. 2014..In the event of cardiovascular/neuropsychiatric polypharmacy in geriatric patients, the risk of muscle severe adverse effects from pharmacokinetic drug-drug interaction should be considered beyond the direct myotoxicity of statins...
- Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsiesFederica Ginanneschi
Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
J Peripher Nerv Syst 17:391-8. 2012..We speculate that a mixture of mechanical insults and an axon-initiated process in the distal nerves underlies the distal slowing and/or conduction failure in HNPP...
- Effects of immunotherapy on motor cortex excitability in Stiff Person SyndromeSimone Rossi
Dipartimento di Neuroscienze, Sezione Neurologia, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100, Siena, Italy
J Neurol 257:281-5. 2010..This represents the first report investigating effects of immunotherapy on cortical excitability in SPS...
- Carpal tunnel syndrome and ulnar neuropathy at the elbow in floor cleanersM Mondelli
EMG Service ASL 7, Via Pian d Ovile, 9, 53100 Siena, Italy
Neurophysiol Clin 36:245-53. 2006..To determine the occurrence of carpal tunnel syndrome (CTS) and ulnar neuropathy at the elbow (UNE) in a cohort of floor cleaners and to check differences between workers with and without CTS...
- A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxiaS Battistini
Institute of Neurological Sciences, University of Siena, Italy
Neurology 53:38-43. 1999..To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) phenotype and a slowly progressive cerebellar ataxia...
- Sympathetic skin response before and after surgical release of carpal tunnel syndromeM Mondelli
EMG Service USL 7, Via Pian d Ovile 9, 53100 Siena, Italy
Muscle Nerve 24:130-3. 2001..M3 SSRs were not significantly modified after surgery. The absence of postsurgical improvement may be due to the poor reinnervation capacity of sympathetic fibers...
- Brain-stem compression in vertebrobasilar dolichoectasia. A multimodal electrophysiological studyS Passero
Dipartimento di Neuroscienze, Sezione di Neurologia, Universita di Siena, Viale Bracci, 53100, Siena, Italy
Clin Neurophysiol 112:1531-9. 2001..To evaluate the effects of mechanical compression of the brain-stem in patients with vertebrobasilar dolichoectasia (VBD)...
- Wernicke encephalopathy after gastrointestinal surgery for cancer: causes of diagnostic failure or delayA Rufa
Dipartimento di Scienze Neurologiche Neurochirurgiche e del Comportamento, Universita degli Studi di Siena, Siena, Italy
Int J Neurosci 121:201-8. 2011..We suggest that prophylaxis with high doses of thiamine should be undertaken in patients with gastrointestinal tumors before surgery...
- Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALSEttore Beghi
Dipartimento di Neuroscienze, Istituto di Ricerche Farmacologiche Mario Negri, Via G La Masa 19, Milan, Italy
Amyotroph Lateral Scler Frontotemporal Degener 14:397-405. 2013..Median survival was 45 months (ALC) and 22 months (placebo) (p = 0.0176). MRC, QoL and adverse events were similar. In conclusion, ALC may be effective, well-tolerated and safe in ALS. A pivotal phase III trial is needed...
- Antiangiogenic VEGF isoform in inflammatory myopathiesNila Volpi
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy
Mediators Inflamm 2013:219313. 2013....
- Further insight on A-wave in acute and chronic demyelinating neuropathiesFerdinando Sartucci
Unit of Neurology, Department of Neurosciences, Pisa University Medical School, Via Roma, n 67, 56126, Pisa, Italy
Neurol Sci 31:609-16. 2010..7 years (SD 15.4), were recovered from clinical records and their neurophysiological tests retrieved for reanalysis. Our results seem to indicate that A-waves can represent an early sign of acute pathology of peripheral nervous system...
- Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degenerationRaffaella Zannolli
Department of Pediatrics, Obstetrics, and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
Arch Neurol 59:1319-26. 2002..The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations...
- Mononeuropathies of the radial nerve: clinical and neurographic findings in 91 consecutive casesMauro Mondelli
EMG Service, ASL7, Via Pian d Ovile, 9, 53100 Siena, Italy
J Electromyogr Kinesiol 15:377-83. 2005..No differences were found between men and women. EMG is essential for confirming the site of injury and neurographic study may be helpful for diagnosis, providing information about lesion type and severity...
- Colchicine myopathy and neuromyopathy: two cases with different characteristicsLuca Cantarini
Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy
J Clin Rheumatol 16:229-32. 2010..Gastrointestinal side effects are quite common and often minor in nature or duration, whereas neuromuscular toxicity is rare. We report 2 cases of colchicine myopathy in the context of very different clinical settings...
- Polysomnographic characterization of pergolide-induced sleep attacks in idiopathic PDM Ulivelli
Dipartimento di Neuroscienze, Sezione Neurologia, Policlinico Le Scotte, Viale Bracci, Universita di Siena, I 53100 Siena, Italy
Neurology 58:462-5. 2002..Sleep episodes shared with narcolepsy both behavioral and EEG findings. However, pergolide partly restored a more physiologic sleep architecture, which was disrupted during therapy with levodopa alone...
- Ulnar neuropathy at the elbow: how frequent is the idiopathic form? An ultrasonographic study in a cohort of patientsG Filippou
Department of Clinical Medicine and Immunology, Rheumatology Unit, University of Siena, Siena, Italy
Clin Exp Rheumatol 28:63-7. 2010..Ulnar neuropathy at the elbow (UNE) is the second most frequent focal neuropathy of the arm. The aim of our study was to establish the frequency of anatomical changes of the cubital tunnel capable of causing UNE...
- Inter-observer reproducibility and responsiveness of a clinical severity scale in surgically treated carpal tunnel syndromeM Mondelli
Servizio EMG ASL 7, Siena, Italy
Acta Neurol Scand 106:263-8. 2002....
- Provocative tests in different stages of carpal tunnel syndromeM Mondelli
Servizio di EMG, Azienda Sanitaria Locale n.7 di Siena, Siena, Italy
Clin Neurol Neurosurg 103:178-83. 2001..This correlation may also explain the contradictory results in the literature...
- A self-administered questionnaire of ulnar neuropathy at the elbowM Mondelli
Servizio di EMG, ASL 7, Via Pian d Ovile 9, I 53100, Siena, Italy
Neurol Sci 27:402-11. 2006..Although further studies are required to test its responsiveness to clinical changes, UNEQ may be also considered responsive. UNEQ can be used to measure subjective discomfort in UNE patients...
- Italian multicentre study of peroneal mononeuropathy at the fibular head: study design and preliminary resultsI Aprile
Department of Neuroscience, Institute of Neurology, Universita Cattolica, Roma, Italy
Acta Neurochir Suppl 92:63-8. 2005..In recent years, multicenter studies have been suggested; moreover it is commonly accepted that a multiperspective approach provides more comprehensive results...
- Prevalence and characteristics of peripheral neuropathy in hepatitis C virus populationL Santoro
Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, and Department of Neurology, Hospital Maggiore, Lodi, Italy
J Neurol Neurosurg Psychiatry 77:626-9. 2006..To assess the prevalence of peripheral neuropathy (PN) and its correlation with cryoglobulinemia (CG) in an unselected, untreated referral hepatitis C virus (HCV) population...