Research Topics
Genomes and GenesSpecies | A GambardellaSummaryAffiliation: National Research Council Country: Italy Publications
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Detail Information
Publications
Limited chronic focal encephalitis: another variant of Rasmussen syndrome?A Gambardella
Institute of Neurology, University Magna Graecia, Catanzaro Viale Europa, località Germaneto, 88100 Catanzaro, Italy
Neurology 70:374-7. 2008..To describe a more limited and less malignant form of Rasmussen encephalitis (RE)...
Clinical spectrum of SCN1A mutationsAntonio Gambardella
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Epilepsia 50:20-3. 2009..Functional studies so far show no consistent relationship between changes to channel properties and clinical phenotype...
Familial mesial temporal lobe epilepsies: clinical and genetic featuresAntonio Gambardella
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Epilepsia 50:55-7. 2009..The genetics of these conditions is largely unknown and the hope for the future is that the identification of FMTLE genes will lead to more appropriate approaches for the diagnosis and treatment of TLE...
Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern ItalyA Gambardella
Cattedra ed U O di Neurologia, Facolta di Medicina e Chirurgia di Catanzaro, Policlinico Mater Domini, Catanzaro, Italy
Epilepsy Res 38:127-32. 2000..Interictal anteromesiotemporal spiking was seen in 5/7 patients, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures...
GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsyA Gambardella
Institute of Neurology, School of Medicine, Catanzaro, Italy
Neurology 60:560-3. 2003..Dysfunction of gamma-aminobutyric acid (GABA) (B) receptors has been implicated in the pathogenesis of temporal lobe epilepsy (TLE)...
Apolipoprotein E polymorphisms and the risk of nonlesional temporal lobe epilepsyA Gambardella
Institute of Neurology, School of Medicine of Catanzaro, Italy
Epilepsia 40:1804-7. 1999....
The fragile X premutation presenting as postprandial hypotensionP Pugliese
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Neurology 63:2188-9. 2004
Juvenile Huntington's disease presenting as progressive myoclonic epilepsyA Gambardella
Institute of Neurology, School of Medicine, Catanzaro, Italy
Neurology 57:708-11. 2001..This diagnosis should be considered in addition to other causes in patients with PME. Moreover, the current case further supports the notion that HD should be considered even when a family history is not obvious...
Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)P Valentino
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Neurology 64:1477-8. 2005
Silent celiac disease in patients with childhood localization-related epilepsiesA Labate
Institute of Neurology, University Magna Graecia of Catanzaro, Italy
Epilepsia 42:1153-5. 2001..CONCLUSIONS: Our study indicates that CD screening should be performed routinely only in patients with CPEO...
Cerebral venous thrombosis and isolated intracranial hypertension without papilledema in CDHA Quattrone
Institutes of Neurology, University Magna Graecia, Catanzaro, Italy
Neurology 57:31-6. 2001..There is evidence that patients with chronic daily headache (CDH) may have isolated intracranial hypertension without papilledema (IHWOP). Recent studies have emphasized that isolated IH may be due to cerebral venous thrombosis (CVT)...
Usefulness of latero-orbital electrodes in detecting interictal epileptiform activity--a study of 60 patients with complex partial seizuresA Gambardella
Institute of Neurology School of Medicine, Catanzaro, Italy
Electroencephalogr Clin Neurophysiol 107:174-6. 1998..The use of latero-orbital (Lo) electrodes is a routine practice in any EEG laboratory to evaluate eye motion, but there are no data about their usefulness in revealing interictal epileptiform abnormalities...
A hypofibrinolytic state in overweight patients with cerebral venous thrombosis and isolated intracranial hypertensionA Quattrone
Cattedra ed U O di Neurologia, Facolta di Medicina e Chirurgia, Catanzaro, Italy
J Neurol 246:1086-9. 1999..In conclusion, the present study provides solid evidence that impaired fibrinolysis probably related to overweight, acting in concert with other prothrombotic abnormalities, is involved in the pathogenesis of CVT presenting as iIH...
Hippocampal and thalamic atrophy in mild temporal lobe epilepsy: a VBM studyA Labate
Cattedra ed UO di Neurologia, Universita degli Studi Magna Graecia, Campus Universitario Germaneto, Catanzaro, Italy
Neurology 71:1094-101. 2008..To better define the anatomic substrates associated with TLE, we applied voxel-based morphometry (VBM) analysis to patients with mild TLE...
Genetic association of alpha2-macroglobulin polymorphisms with AD in southern ItalyM Zappia
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Neurology 59:756-8. 2002..Moreover, subjects carrying the A2M genotype I/I-Val/Val had a threefold increase of risk for AD. These data support a population-based susceptibility for AD linked to A2M polymorphisms...
Interhemispheric threshold differences in idiopathic generalized epilepsies with versive or circling seizures determined with focal magnetic transcranial stimulationU Aguglia
Clinica Neurologica, Policlinico Materdomini, Universita degli Studi di Catanzaro, Via T Campanella, 88100, Catanzaro, Italy
Epilepsy Res 40:1-6. 2000..An interhemispheric imbalance of cortical excitability may explain lateralized ictal motor manifestations in patients with IGEvc...
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control studyA Labate
Institute of Neurology, University Magna Graecia, 88100 Catanzaro, Italy
Neurology 74:553-7. 2010..To prospectively assess the frequency of mesiotemporal abnormalities seen on brain MRI in healthy subjects in comparison with patients with temporal lobe epilepsy (TLE)...
MRI evidence of mesial temporal sclerosis in sporadic "benign" temporal lobe epilepsyA Labate
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Neurology 66:562-5. 2006..03) in patients with MRI-detected MTS (9/39; 23%) vs those with normal MRI (5/62; 8%). CONCLUSIONS: MRI-detected mesial temporal sclerosis is often encountered in patients with sporadic benign temporal lobe epilepsy...
Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literatureE Ferlazzo
Institute of Neurology, Magna Graecia University, Catanzaro, Italy
Eur J Neurol 19:1331-6. 2012..Furthermore, we reviewed literature data concerning the value of such a diagnostic procedure in the diagnosis of KD...
Anti-GM1 ganglioside antibodies in Parkinson's diseaseM Zappia
Institute of Neurology, University of Catanzaro, Catanzaro, Italy
Acta Neurol Scand 106:54-7. 2002..4%) and none of normal controls had sera positive for IgG anti-GM1 antibodies. CONCLUSION: A consistent portion of parkinsonians, mainly with a tremor-dominant form of PD, may have increased circulating IgM anti-GM1 antibodies...
Sleep-induced masticatory myoclonus: a rare parasomnia associated with insomniaU Aguglia
Institute of Neurological Sciences, School of Medicine, University of Reggio Cal, Catanzaro, Italy
Sleep 14:80-2. 1991..A purposive interdental plate was placed to prevent jaw closings during sleep: masticatory myoclonus still persisted, but it did not provoke arousals; insomnia disappeared and night hypnograms improved...
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutationA Labate
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Eur J Neurol 20:591-3. 2013....
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findingsR L Oliveri
Institute of Neurology, University Magna Graecia, 88100 Catanzaro, Italy
Arch Neurol 58:1418-22. 2001..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by mutations of the Notch3 gene, usually localized to exons 3 and 4...
The parkin gene is not involved in late-onset Parkinson's diseaseR L Oliveri
Institute of Neurology, University of Catanzaro, Italy
Neurology 57:359-62. 2001..Moreover, no differences were found between patients and 100 age-matched normal controls in the allele and genotype frequencies of four exonic parkin polymorphisms...
Health-related quality of life in epilepsy: findings obtained with a new Italian instrumentAda Piazzini
Epilepsy Center, St Paolo Hospital, Milan, Italy
Epilepsy Behav 13:119-26. 2008..We believe that a new specific questionnaire for the evaluation of HRQOL in Italy can contribute much to the understanding of the influence of epilepsy on patients' lives...
Gene conversion events in adult-onset spinal muscular atrophyR Mazzei
Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
Acta Neurol Scand 109:151-4. 2004....
Comparison of the safety and efficacy of paclitaxel plus gemcitabine combination in young and elderly patients with locally advanced or metastatic non-small cell lung cancer. A retrospective analysis of the Southern Italy Cooperative Oncology Group trialsPasquale Comella
Division of Medical Oncology A, Department of Medical Oncology, National Tumor Institute, Via M Semmola, 80131 Naples, Italy
Crit Rev Oncol Hematol 65:164-71. 2008..In conclusion, paclitaxel plus gemcitabine were similarly tolerated and active in younger and elderly patients. This regimen should be considered an option for the management of fit elderly patients...
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern ItalyM Muglia
Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone-Cosenza, Italy
Neurology 56:100-3. 2001..Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170...
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsyD D'Agostino
Department of Neurology, Montreal Neurological Institute
Neurology 63:1500-2. 2004..The authors conclude that CLCN2 mutations may be a rare cause of familial epilepsy. Further studies are needed to test if polymorphisms in this gene are associated with epilepsy...
