G Siciliano

Summary

Affiliation: University of Pisa
Country: Italy

Publications

  1. ncbi request reprint Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis
    G Siciliano
    Dept of Neuroscience Neurological clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    J Neurol 254:575-80. 2007
  2. pmc Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies
    Gabriele Siciliano
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Neuromuscul Disord 22:S172-7. 2012
  3. ncbi request reprint Functional diagnostics in mitochondrial diseases
    Gabriele Siciliano
    Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    Biosci Rep 27:53-67. 2007
  4. ncbi request reprint Clinical trials for neuroprotection in ALS
    G Siciliano
    Department of Neuroscience, Clinical Neurology, University of Pisa, Pisa, Italy
    CNS Neurol Disord Drug Targets 9:305-13. 2010
  5. doi request reprint Molecular diagnostics and mitochondrial dysfunction: a future perspective
    Gabriele Siciliano
    Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Expert Rev Mol Diagn 8:531-49. 2008
  6. ncbi request reprint Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany
    M Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, I 56126, Pisa, Italy
    Neurol Sci 28:142-7. 2007
  7. ncbi request reprint Impaired oxidative metabolism in exercising muscle from ALS patients
    G Siciliano
    Neurological Clinics, Department of Neuroscience, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    J Neurol Sci 191:61-5. 2001
  8. ncbi request reprint Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis
    G Siciliano
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Clin Genet 59:344-9. 2001
  9. ncbi request reprint No evidence for allelic association of serotonin 2A receptor and transporter gene polymorphisms with depression in Alzheimer disease
    D Micheli
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    J Alzheimers Dis 10:371-8. 2006
  10. doi request reprint Metabolic myopathies: functional evaluation by different exercise testing approaches
    L Volpi
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Musculoskelet Surg 95:59-67. 2011

Detail Information

Publications116 found, 100 shown here

  1. ncbi request reprint Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis
    G Siciliano
    Dept of Neuroscience Neurological clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    J Neurol 254:575-80. 2007
    ....
  2. pmc Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies
    Gabriele Siciliano
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Neuromuscul Disord 22:S172-7. 2012
    ..5% respectively at the corresponding times during the exercise test (P=0.06). These data indicate that, in mitochondrial patients, oxidative stress occurs and that an aerobic training is useful in partially reverting this condition...
  3. ncbi request reprint Functional diagnostics in mitochondrial diseases
    Gabriele Siciliano
    Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    Biosci Rep 27:53-67. 2007
    ..Exercise is a particularly important tool in diagnosis as well as in the management of these diseases...
  4. ncbi request reprint Clinical trials for neuroprotection in ALS
    G Siciliano
    Department of Neuroscience, Clinical Neurology, University of Pisa, Pisa, Italy
    CNS Neurol Disord Drug Targets 9:305-13. 2010
    ..This knowledge is expected to improve our understanding of the pathogenetic mechanism in ALS and developing more effective therapies...
  5. doi request reprint Molecular diagnostics and mitochondrial dysfunction: a future perspective
    Gabriele Siciliano
    Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Expert Rev Mol Diagn 8:531-49. 2008
    ....
  6. ncbi request reprint Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany
    M Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, I 56126, Pisa, Italy
    Neurol Sci 28:142-7. 2007
    ..Further studies will be required to define the contribution of mtDNA haplogroups, if any, to the pathogenesis of AD. A correct population selection, in order to minimise the risk of genetic contamination, is essential in these studies...
  7. ncbi request reprint Impaired oxidative metabolism in exercising muscle from ALS patients
    G Siciliano
    Neurological Clinics, Department of Neuroscience, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    J Neurol Sci 191:61-5. 2001
    ....
  8. ncbi request reprint Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis
    G Siciliano
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Clin Genet 59:344-9. 2001
    ....
  9. ncbi request reprint No evidence for allelic association of serotonin 2A receptor and transporter gene polymorphisms with depression in Alzheimer disease
    D Micheli
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    J Alzheimers Dis 10:371-8. 2006
    ..These results suggest that the serotoninergic system may be not involved in the pathogenesis of depressive symptoms in AD patients, and it may be involved in other aspects of disease pathophysiology like cognitive symptoms and psychosis...
  10. doi request reprint Metabolic myopathies: functional evaluation by different exercise testing approaches
    L Volpi
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Musculoskelet Surg 95:59-67. 2011
    ..Exercise tests are, therefore, reliable screening tools. Here, we discuss the possible role of such exercise testing techniques in the diagnostic approach of a patient with suspected metabolic myopathy...
  11. ncbi request reprint Coenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonic dystrophy
    G Siciliano
    Department of Neuroscience, Neurological Clinics, University of Pisa, Pisa, Italy
    Brain Res Bull 56:405-10. 2001
    ..Our data indicates the occurrence of reduced CoQ10 levels in DM, possibly related to disease pathogenic mechanisms associated with abnormal CTG trinucleotide amplification...
  12. ncbi request reprint The relationship of plasma catecholamine and lactate during anaerobic threshold exercise in mitochondrial myopathies
    G Siciliano
    Department of Neurosciences, Neurological Clinics, University of Pisa, Italy
    Neuromuscul Disord 9:411-6. 1999
    ..36 versus 1.48 and 2.40 versus 1.57, respectively). The study shows that the abnormal lactate production in mitochondrial myopathies is independent of the catecholaminergic response at the transition from aerobic to anaerobic exercise...
  13. ncbi request reprint Searching for the role and the most suitable biomarkers of oxidative stress in Alzheimer's disease and in other neurodegenerative diseases
    L Migliore
    Department of Human and Environmental Sciences, University of Pisa, Via S Giuseppe 22, 56126 Pisa, Italy
    Neurobiol Aging 26:587-95. 2005
    ....
  14. ncbi request reprint A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation
    M Mancuso
    Department of Neurosciences, Neurological Clinics, University of Pisa, Pisa, Italy
    Acta Neurol Scand 110:72-4. 2004
    ..Patients with hearing loss due to mtDNA mutations should be considered as good candidates for cochlear implantation...
  15. doi request reprint Tetracycline treatment in patients with progressive external ophthalmoplegia
    M Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Acta Neurol Scand 124:417-23. 2011
    ....
  16. ncbi request reprint Cortical silent period in patients with amyotrophic lateral sclerosis
    G Siciliano
    Department of Neurosciences, Neurological Clinics, University of Pisa, Pisa, Italy
    J Neurol Sci 169:93-7. 1999
    ....
  17. ncbi request reprint Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A): association studies with psychosis in Alzheimer disease
    A Rocchi
    Department of Neuroscience Neurological Clinics, University of Pisa, Pisa, Italy
    Genet Test 7:309-14. 2003
    ..On the contrary, the serotonin transporter does not appear to be a major susceptibility factor in the pathophysiology of the disease...
  18. pmc Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
    Adriano Chio
    ALS Center, Department of Neuroscience, University of Turin, Turin, Italy
    Neurobiol Aging 30:1272-5. 2009
    ..R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation...
  19. doi request reprint The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation
    Gianfranco Cafforio
    Department of Neuroscience O U of Neurology, S Chiara Hospital, University of Pisa, Pisa, Italy
    Neurol Sci 29:189-91. 2008
    ..This family confirms the clinical heterogeneity associated with this specific mutation. Moreover, this is the first report in which neuroimaging seems to confirm the pyramidal alterations in dHMN associated to SPG17...
  20. doi request reprint Oxidative stress and APO E polymorphisms in Alzheimer's disease and in mild cognitive impairment
    L Chico
    Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy
    Free Radic Res 47:569-76. 2013
    ..This study, in confirming the occurrence of oxidative stress in AD and MCI patients, shows how it can be related, at least for superoxide dismutase activity in MCI, to APO E4 allele risk factor...
  21. ncbi request reprint Targeting mitochondrial dysfunction and neurodegeneration by means of coenzyme Q10 and its analogues
    D Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Curr Med Chem 18:4053-64. 2011
    ....
  22. ncbi request reprint Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study
    R Sposito
    Department of Neuroscience, University of Pisa, 56126 Pisa, Italy
    Genet Test 9:30-6. 2005
    ..Furthermore, it underlines the usefulness of routine adoption of the genetic testing in confirming clinical suspicion of FSHD1A as well as in correctly diagnosing atypical and otherwise misclassified cases...
  23. ncbi request reprint Mitochondrial syndromic sensorineural hearing loss
    F Forli
    Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa, 56126, Italy
    Biosci Rep 27:113-23. 2007
    ....
  24. ncbi request reprint From mild cognitive impairment to dementia: a prevalence study in a district of Tuscany, Italy
    G Tognoni
    Department of Neuroscience, Clinical Neurology, University of Pisa, Pisa, Italy
    Acta Neurol Scand 112:65-71. 2005
    ..Identification of cases with mild cognitive impairment (MCI) was given high priority, because this condition has been suggested as a term for the boundary area between normal aging and dementia...
  25. ncbi request reprint Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker
    M Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Curr Mol Med 9:1095-107. 2009
    ..In this paper we review the diagnostic approach to MD, from serum lactate to other blood and urinary markers, from muscular biopsy to imaging studies, and we highlight some potentially interesting perspectives in this field...
  26. ncbi request reprint Mitochondria, mitochondrial DNA and Alzheimer's disease. What comes first?
    M Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Curr Alzheimer Res 5:457-68. 2008
    ..In this review we discuss the role of the mitochondria in the cascade of events leading to AD, and we will try to provide an answer to the question "what comes first"...
  27. pmc Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports
    G Siciliano
    Department of Neurosciences, Neurology Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    J Neurol Neurosurg Psychiatry 71:685-7. 2001
    ....
  28. ncbi request reprint Coenzyme Q10 in neuromuscular and neurodegenerative disorders
    M Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Curr Drug Targets 11:111-21. 2010
    ..We also briefly report a case of the myopathic form of CoQ10 deficiency...
  29. ncbi request reprint Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies
    G Siciliano
    Department of Neurosciences, University of Pisa, Italy
    Neuromuscul Disord 10:40-5. 2000
    ..This in turn suggests that the lactate decrease can be explained, at least in part, by the improved muscle oxidative metabolism consequent to the proposed training program...
  30. doi request reprint A personal monitoring architecture to detect muscular fatigue in elderly
    G Tartarisco
    Institute of Clinical Physiology, National Research Council of Italy, Pisa, Italy
    Neuromuscul Disord 22:S192-7. 2012
    ..In this study, we report a novel, non-invasive assistive architecture for the elderly to assess muscle fatigue by biomedical sensors (surface electromyography) using wireless platform during exercise in an ergonomic platform...
  31. ncbi request reprint Oxidative DNA damage in peripheral leukocytes of mild cognitive impairment and AD patients
    L Migliore
    Department of Human and Environmental Sciences, University of Pisa, Via S Giuseppe 22, 56126 Pisa, Italy
    Neurobiol Aging 26:567-73. 2005
    ..Our results give a further indication that oxidative stress, at least at the DNA level, is an earlier event in the pathogenesis of AD...
  32. doi request reprint Low frequency stimulation of the nucleus tegmenti pedunculopontini increases cortical metabolism in parkinsonian patients
    R Ceravolo
    Clinica Neurologica, Dipartimento di Neuroscienze, Universita di Pisa, Pisa, Italy
    Eur J Neurol 18:842-9. 2011
    ..To evaluate the effects of 25-Hz deep brain stimulation of the nucleus tegmenti pedunculopontini (PPTg) on brain metabolic activity...
  33. ncbi request reprint Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions
    F Forli
    Division of ENT, Department of Neuroscience, University of Pisa, Italy
    J Laryngol Otol 120:888-91. 2006
    ....
  34. doi request reprint CSF phosporylated TAU protein levels correlate with cerebral glucose metabolism assessed with PET in Alzheimer's disease
    R Ceravolo
    Department of Neuroscience, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Brain Res Bull 76:80-4. 2008
    ..These results indicate the existence of a correlation between impairment of cerebral metabolism, estimated throughout FDG-PET, and CSF Tau protein levels...
  35. doi request reprint Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication
    L Volpi
    Department of Neuroscience, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neuromuscul Disord 20:512-6. 2010
    ..We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy...
  36. ncbi request reprint Sudden bilateral hearing loss and sporadic mitochondrial DNA deletion
    S Berrettini
    Neuroscience Department, ENT Unit, University of Pisa, Italy
    J Laryngol Otol 115:128-31. 2001
    ..The case underscores the importance of investigating a mitochondrial disease in cases of SNHL of unknown origin and points out the importance of an increased blood level of lactic acid as a screening test...
  37. ncbi request reprint Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation
    G Siciliano
    Department of Neurosciences, Neurological Clinics, University of Pisa, Italy
    Clin Genet 56:51-8. 1999
    ..The combined reduction of DMD/BMD diagnostic error rate and familial recurrence could explain these results, providing the bases for a consistent redefinition of dystrophinopathy carrier frequency in the area considered...
  38. ncbi request reprint Cx26 gene mutations in idiopathic progressive hearing loss
    Francesca Ravecca
    Neuroscience Department, University of Pisa, Pisa, Italy
    J Otolaryngol 34:126-34. 2005
    ..The present study evaluated the frequency and type of mutations throughout the entire GJB2 region in a population of 39 patients affected with sporadic progressive "idiopathic" hearing loss...
  39. ncbi request reprint Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children
    Fabio Coppede
    Department of Neurosciences, University of Pisa, Pisa, Italy
    Am J Med Genet A 143:2006-15. 2007
    ....
  40. ncbi request reprint Mitochondrial dysfunction, oxidative stress and neurodegeneration
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    J Alzheimers Dis 10:59-73. 2006
    ..Here we examine the current evidences in this field, which indicate a key role of mitochondria and oxidative stress in contributing to the neurodegenerative processes...
  41. ncbi request reprint Mitochondria and neurodegeneration
    Lucia Petrozzi
    Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
    Biosci Rep 27:87-104. 2007
    ....
  42. ncbi request reprint The role of vascular factors in late-onset sporadic Alzheimer's disease. Genetic and molecular aspects
    A Rocchi
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Curr Alzheimer Res 6:224-37. 2009
    ....
  43. pmc Pes cavus and hereditary neuropathies: when a relationship should be suspected
    S Piazza
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    J Orthop Traumatol 11:195-201. 2010
    ....
  44. ncbi request reprint Causative and susceptibility genes for Alzheimer's disease: a review
    A Rocchi
    Department of Neurosciences, Neurological Clinics, University of Pisa Medical School, Via Roma 67, 56126 Pisa, Italy
    Brain Res Bull 61:1-24. 2003
    ....
  45. doi request reprint G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype
    Stefania 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...
  46. doi request reprint Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurosci Lett 444:83-6. 2008
    ..No significant difference was observed between different haplogroups and haplogroup clusters in the cognitive or motor progression of the disease. Our study does not support any association between mtDNA haplogroups and HD...
  47. doi request reprint Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    J Neurol 257:774-81. 2010
    ..Oxidative stress biomarkers may be useful to detect redox imbalance in mitochondrial diseases and to provide non-invasive tools to monitor disease status...
  48. pmc Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases
    M Mancuso
    Neurological Clinic, University of Pisa, Italy
    Neuromuscul Disord 22:S226-9. 2012
    ..Multicenter efforts are strongly needed for rare disorders such as mitochondrial diseases, and may represent the basis for more rigorous longitudinal studies...
  49. ncbi request reprint Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
    C Pizzanelli
    Neurophysiopathology Unit, Hospital Lotti, Via Roma 180, I 56025, Pontedera, and Department of Neuroscience, University of Pisa, Italy
    Neurol Sci 27:134-6. 2006
    ..Involvement of tissues other than the skeletal muscle has not been reported so far. Here we describe the unusual association of LGMD2A and idiopathic generalised epilepsy in a 14-year-old girl...
  50. ncbi request reprint Gastric emptying in myotonic dystrophic patients
    M Bellini
    Dig Liver Dis 34:484-8. 2002
    ..Although motility disorders may be observed in these patients at any level of the gastrointestinal tract, upper gastrointestinal symptoms have up to now usually been considered to be due to oesophageal rather than gastric dysmotility...
  51. ncbi request reprint Impaired oxidative metabolism and lipid peroxidation in exercising muscle from ALS patients
    Gabriele Siciliano
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Amyotroph Lateral Scler Other Motor Neuron Disord 3:57-62. 2002
    ..selective loss of motor neurons in amyotrophic lateral sclerosis (ALS) are unknown, there is increasing evidence for the hypothesis of an oxidative stress-related mitochondrial involvement as key determinant of motor neuron degeneration..
  52. pmc Lithium delays progression of amyotrophic lateral sclerosis
    Francesco Fornai
    Department of Human Morphology and Applied Biology, University of Pisa 56100 Pisa, Italy
    Proc Natl Acad Sci U S A 105:2052-7. 2008
    ..All these mechanisms may contribute to the effects of lithium, and these results offer a promising perspective for the treatment of human patients affected by ALS...
  53. ncbi request reprint Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis
    Fabio Coppede
    Department of Neurosciences, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurosci Lett 420:163-8. 2007
    ..Present results suggest a possible involvement of the hOGG1 Ser326Cys polymorphism in sALS pathogenesis...
  54. doi request reprint Lithium in ALS: from the bench to the bedside
    Francesco Fornai
    Department of Human Morphology and Applied Biology, University of Pisa, Italy
    Amyotroph Lateral Scler 9:123-4. 2008
  55. doi request reprint Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis
    Fabio Coppede
    Department of Neuroscience, Neurological Clinic, University of Pisa, 56126 Pisa, Italy
    Neurobiol Aging 31:353-5. 2010
    ..Present results do not support a role for the APEX1 Asp148Glu polymorphism in sALS pathogenesis in the Italian population...
  56. doi request reprint Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature
    Stefano Berrettini
    Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa, 56126, Italy
    Biosci Rep 28:49-59. 2008
    ..In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment...
  57. doi request reprint Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring
    Fabio Coppede
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Neurosci Lett 449:15-9. 2009
    ..0001) and, in the total population, a significant correlation between micronucleated cells and both MTHFR 677C>T (P=0.031) and 1298A>C (P=0.047) polymorphisms...
  58. ncbi request reprint A Ser326Cys polymorphism in the DNA repair gene hOGG1 is not associated with sporadic Alzheimer's disease
    Fabio Coppede
    Department of Neurosciences, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurosci Lett 414:282-5. 2007
    ..03, p=0.86) or genotype (chi2=0.25, p=0.882) frequencies of hOGG1 Ser326Cys and the risk of sAD. Present results suggest that the Ser326Cys polymorphism of the hOGG1 gene is not an independent risk factor for sAD...
  59. doi request reprint The hOGG1 Ser326Cys polymorphism is not associated with sporadic Parkinson's disease
    Fabio Coppede
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurosci Lett 473:248-51. 2010
    ..Moreover, the hOGG1 Ser326Cys polymorphism was not associated with disease age at onset (p=0.791). Overall, present results suggest that the hOGG1 Ser326Cys polymorphism is not associated with sporadic PD...
  60. ncbi request reprint Advanced oxidation protein products in serum of patients with myotonic disease type I: association with serum gamma-glutamyltransferase and disease severity
    Gabriele Siciliano
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Clin Chem Lab Med 43:745-7. 2005
    ....
  61. ncbi request reprint Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy
    Fabio Galetta
    Department of Internal Medicine, School of Medicine, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neuromuscul Disord 15:403-8. 2005
    ..Moreover, septal CV-IBS was inversely related to the Kpnl-BinI4q fragment size. These results suggest a subclinical cardiac involvement in FSHD1A patients, which can represent a substrate for ventricular arrhythmias and heart failure...
  62. ncbi request reprint The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia
    Gabriele Siciliano
    Department of Neurosciences, Neurological Clinic, University of Pisa, Italy
    Funct Neurol 18:83-7. 2003
    ....
  63. doi request reprint Is there a primary role of the mitochondrial genome in Alzheimer's disease?
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy
    J Bioenerg Biomembr 41:411-6. 2009
    ..Indeed, results of studies on the role of mtDNA polymorphisms or haplogroups in AD are controversial. In this minireview, we summarize the actual knowledge about the involvement of mtDNA in AD pathology...
  64. ncbi request reprint Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease
    Michelangelo Mancuso
    Department of Neurosciences, Neurological Clinics, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    Exp Neurol 182:421-6. 2003
    ..These results support the hypothesis of a systemic impairment of the mitochondrial function in AD and indicate that decreased COX activity could have functional consequences on metabolism...
  65. doi request reprint Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis
    Fabio Coppede
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Amyotroph Lateral Scler 11:122-4. 2010
    ..We observed a statistically significant difference in XRCC1 Gln399 allele frequencies between SALS cases and controls (0.39/0.28; p=0.001). The present study suggests that the XRCC1 Arg399Gln polymorphism might contribute to SALS risk...
  66. ncbi request reprint Lactate production and catecholamine profile during aerobic exercise in normotensive OSAS patients
    Enrica Bonanni
    Neurological Clinic, Department of Neurosciences, University of Pisa, Via Roma 67, Pisa 56126, Italy
    Sleep Med 5:137-45. 2004
    ..The aim of the study was to evaluate the catecholaminergic activity and lactate concentration during exercise in normotensive patients with obstructive sleep apnoea syndrome (OSAS)...
  67. ncbi request reprint Genes and the environment in neurodegeneration
    Fabio Coppede
    Department of Neurosciences, University of Pisa, Via Roma 67, Pisa 56126, Italy
    Biosci Rep 26:341-67. 2006
    ..and discuss possible links of gene-environment interplay including, where implicated, mitochondrial genes...
  68. ncbi request reprint Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurosci Lett 371:158-62. 2004
    ..Further it may help elucidate the mechanism of the mitochondrial dysfunction detectable in ALS, and may be of relevance in development of strategies for the treatment of this disease...
  69. doi request reprint Protein clearing pathways in ALS
    Michela Ferrucci
    Department of Human Morphology and Applied Biology University of Pisa, Italy
    Arch Ital Biol 149:121-49. 2011
    ..Conversely stimulation of autophagy alleviates motor neuron degeneration.Therefore, autophagy represents an important target when developing novel treatments in ALS...
  70. pmc Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathy
    Gabriele Siciliano
    Department of Neuroscience, University of Pisa, Italy
    Mol Med 8:326-33. 2002
    ..The aim of this study has been to relate h-mtTFA levels in the skeletal muscle of patients affected by Hashimoto's hypothyroidism and myopathy (HHM) to muscle disease and thyroid status...
  71. doi request reprint The hOGG1 Ser326Cys polymorphism and Huntington's disease
    Fabio Coppede
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Toxicology 278:199-203. 2010
    ..041) earlier disease onset than Ser326Ser wild-type individuals, suggesting a possible role of the hOGG1 Ser326Cys polymorphism in HD phenotype...
  72. ncbi request reprint Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy
    L Migliore
    Dipartimento di Scienze dell Uomo e dell Ambiente, Via S Giuseppe 22, Pisa University, 56126 Pisa, Italy
    Mutagenesis 19:43-9. 2004
    ..Patients receiving ubidecarenone showed a statistically significant reduction in the frequency of micronucleated cells after therapy, while only a slight decrease was observed in the levels of both primary DNA damage and oxidized bases...
  73. ncbi request reprint Neuroprotective effects of tetracyclines: molecular targets, animal models and human disease
    D Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    CNS Neurol Disord Drug Targets 8:222-31. 2009
    ..Here, we review the neuroprotective effects of tetracyclines in animal models and in human disease, and we focus on their possible mechanism(s) of action, with special regard to mitochondrial dysfunction in neurodegeneration...
  74. pmc Astrocyte-neuron interactions in neurological disorders
    G Ricci
    Neurologic Clinic, University of Pisa, Pisa, Italy
    J Biol Phys 35:317-36. 2009
    ..Moreover, increasing evidence is stressing the emerging role of astrocyte dysfunction in the pathophysiology of neurological disorders, including neurodegenerative disease, stroke, epilepsy, migraine, and neuroinflammatory diseases...
  75. ncbi request reprint Effects of grating spatial orientation on visual evoked potentials and contrast sensitivity in multiple sclerosis
    F Logi
    Department of Neurosciences, Institute of Neurology, University of Pisa, Italy
    Acta Neurol Scand 103:97-104. 2001
    ....
  76. ncbi request reprint Clinical features and pathogenesis of Alzheimer's disease: involvement of mitochondria and mitochondrial DNA
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126, Italy
    Adv Exp Med Biol 685:34-44. 2010
    ....
  77. ncbi request reprint Mitochondrial DNA-related disorders
    Michelangelo Mancuso
    Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
    Biosci Rep 27:31-7. 2007
    ..In this review, we briefly report an updated classification and overview the main clinical pictures of this class of diseases...
  78. ncbi request reprint Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy
    J Affect Disord 106:173-7. 2008
    ..However, they are rarely the only persistent manifestation of a MD and they are usually associated with other neurological or non-neurological features...
  79. ncbi request reprint Visual hallucinations in Parkinson's disease are not influenced by polymorphisms of serotonin 5-HT2A receptor and transporter genes
    Lorenzo Kiferle
    Department of Neuroscience, University of Pisa, Via Roma 67, 56127 Pisa, Italy
    Neurosci Lett 422:228-31. 2007
    ..These data might suggest that 5-HTTLPR and 5-HT2A polymorphisms are not major susceptibility factors of psychotic symptoms in PD patients...
  80. ncbi request reprint Low prevalence of TT virus in the cerebrospinal fluid of viremic patients with central nervous system disorders
    F Maggi
    Retrovirus Center and Virology Section, Department of Biomedicine, University of Pisa, Pisa, Italy
    J Med Virol 65:418-22. 2001
    ..In addition, the TTV isolates detected in the two body fluids were distinct genetically. The detection of TTV DNA in CSF is of considerable interest but the clinical significance remains unknown...
  81. ncbi request reprint Dream recall after sleep interruption in brain-injured patients
    L Murri
    Institute of Neurology, University of Pisa, Italy
    Sleep 8:356-62. 1985
    ..The results obtained from compilation of a diary on morning awakening appear sufficiently reliable to reveal the presence or absence of dream recall in patients with focal cerebral lesions in the acute phase of the disease...
  82. doi request reprint Magnetization transfer imaging demonstrates a distributed pattern of microstructural changes of the cerebral cortex in amyotrophic lateral sclerosis
    M Cosottini
    Department of Neuroscience, University of Pisa, Pisa, Italy
    AJNR Am J Neuroradiol 32:704-8. 2011
    ..We explored the capability of MTI to map the microstructural changes in cerebral motor and extramotor cortices of patients with ALS...
  83. pmc Novel sarcoglycan gene mutations in a large cohort of Italian patients
    C Boito
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy Department of Neurosciences, University of Pisa, Italy
    J Med Genet 40:e67. 2003
  84. ncbi request reprint The role of autophagy: what can be learned from the genetic forms of amyotrophic lateral sclerosis
    Livia Pasquali
    Department of Neuroscience, Clinical Neurology, University of Pisa, Pisa, Italy
    CNS Neurol Disord Drug Targets 9:268-78. 2010
    ..These novel insights into the pathogenesis of ALS may lead to the identification of novel strategies to promote motor neuron survival...
  85. doi request reprint Evaluation of corticospinal tract impairment in the brain of patients with amyotrophic lateral sclerosis by using diffusion tensor imaging acquisition schemes with different numbers of diffusion-weighting directions
    Mirco Cosottini
    Department of Neuroscience, University of Pisa, Pisa, Italy
    J Comput Assist Tomogr 34:746-50. 2010
    ..86%). Diffusion tensor imaging confirms its potentials in diagnosing ALS with a good accuracy; the acquisition scheme with a higher diffusion-weighting directions seems to better discriminate between ALS patients and control subjects...
  86. ncbi request reprint The role of mitochondria in stem cell biology
    Claudia Nesti
    CUCCS Center for the Clinical Use of Stem Cells and Department of Neurosciences, Section of Neurology, University of Pisa, Via Roma 67, Pisa, 56126, Italy
    Biosci Rep 27:165-71. 2007
    ..The possible uses of stem cells as a therapeutic tool in mitochondrial disorders are also reported...
  87. ncbi request reprint Mitochondrial dysfunction and Alzheimer's disease: new developments
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    J Alzheimers Dis 9:111-7. 2006
    ..Here we focus our attention on the progress made in this field in the past few years, which indicates a key role of this fossil organelle and of its specific DNA in contributing to the disease...
  88. doi request reprint Thalidomide for improving cutaneous and pulmonary sarcoidosis in patients resistant or with contraindications to corticosteroids
    P Fazzi
    Respiratory Pathophysiology Section, Cardiothoracic and Vascular Department, University of Pisa, Pisa, Italy
    Biomed Pharmacother 66:300-7. 2012
    ..Limited data report thalidomide improves cutaneous sarcoidosis; no benefit has been reported for pulmonary localization...
  89. ncbi request reprint Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene
    G Siciliano
    Neurological Institute, University of Pisa, Pisa, Italy
    Neuromuscul Disord 13:162-5. 2003
    ..The authors identified a missense mutation (leucine 98-->proline) in the adenine nucleotide translocator 1 gene. The presence of bipolar affective disorder expands the phenotype of adenine nucleotide translocator 1 allelic variants...
  90. ncbi request reprint Dissection and atherosclerosis of carotid arteries in the young: role of the apolipoprotein E polymorphism
    G Orlandi
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Eur J Neurol 9:19-21. 2002
    ..Therefore, the epsilon4 allele seems to be involved in carotid premature atherosclerosis development whereas it may appear to be protective for artery dissection occurrence. A larger sample size is needed to support this suggestion...
  91. ncbi request reprint Inclusion body myopathy associated with motor neuron syndrome: three case reports
    G Cafforio
    Department of Neuroscience, University of Pisa, Italy
    Clin Neuropathol 24:36-41. 2005
    ..The association of both pathologies is not common and offers new hypotheses about the pathogenic mechanisms in skeletal muscle and nervous system degeneration...
  92. ncbi request reprint Electrophysiological evaluation of genito-sphincteric dysfunction in multiple system atrophy
    A Pellegrinetti
    Department of Neuroscience, Section of Neurology, University of Pisa, Pisa, Italy
    Int J Neurosci 113:1353-69. 2003
    ..Even if diagnostic yield is not improved using these investigations they provide evidence of multiple lesion sites other than Onuf's nucleus...
  93. ncbi request reprint Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance
    M Cristina Bianchi
    U O di Neuroradiologia, Ospedale S Chiara, Pisa, Italy Istituto Scientifico Stella Maris, Pisa, Italy
    AJNR Am J Neuroradiol 24:1958-66. 2003
    ..We performed MR imaging and (1)H MR spectroscopy of the brain in patients with different types of primary mitochondrial diseases to investigate the role of (1)H MR spectroscopy in the clinical evaluation of these disorders...
  94. ncbi request reprint Modulation of hydrogen peroxide-induced DNA damage, MAPKs activation and cell death in PC12 by ergothioneine
    Renato Colognato
    Dip Scienze dell Uomo e dell Ambiente, Universita di Pisa, Sezione di Genetica Via S Giuseppe 22, 56126 Pisa, Italy
    Clin Nutr 25:135-45. 2006
    ..The aim of this study was to assess the effect of EGT in the prevention of H2O2-dependent cell death and oxidative damage on a model of neural cell derived from rat pheocromocytoma, the PC12...
  95. ncbi request reprint Mitochondrial cascade hypothesis of Alzheimer's disease: myth or reality?
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Antioxid Redox Signal 9:1631-46. 2007
    ..This review presents the ways in which malfunctioning mitochondria and oxidative stress might contribute to neuronal death in AD...
  96. pmc A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
    Adriano Chio
    Department of Neuroscience, University of Turin, Turin, Italy
    Hum Mol Genet 18:1524-32. 2009
    ..Our findings suggest that ALS is more genetically and clinically heterogeneous than previously recognized. Genotype data from our study have been made available online to facilitate such future endeavors...
  97. pmc Mitochondria, oxidative stress and PARP-1 network: a new target for neuroprotective effects of tetracyclines?
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    J Physiol 586:2427-8. 2008
  98. doi request reprint Strategies for clinical approach to neurodegeneration in Amyotrophic lateral sclerosis
    Cecilia Carlesi
    Department of Neuroscience, Clinical Neurology, University of Pisa, Pisa, Italy
    Arch Ital Biol 149:151-67. 2011
    ..Here we review some of the recent progress in promoting therapeutic strategies for neurodegeneration...
  99. pmc Peripheral benzodiazepine binding sites in platelets of patients affected by mitochondrial diseases and large scale mitochondrial DNA rearrangements
    Claudia Martini
    Department of Psychiatry, Neurobiology, Pharmacology and Biotechnology, University of Pisa, Italy
    Mol Med 8:841-6. 2002
    ..The aim of this work has been to evaluate PBR kinetic binding parameters in platelets from patients affected by mitochondrial disorders (MD) with large-scale mitochondrial DNA deletions and reduced cytochrome c oxidase activity...
  100. doi request reprint Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy
    Neurol Sci 30:417-20. 2009
    ..Our report supports the variability of the clinical expression of the E200K genetic CJD. Further studies are needed to understand the molecular basis underlying the phenotypic variability among patients carrying this mutation...
  101. doi request reprint Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Nutr Rev 67:427-38. 2009
    ..This article reviews the rationale for their use and their role in clinical practice in the context of MDs and other disorders involving mitochondrial dysfunction...