Gabriele Siciliano

Summary

Affiliation: University of Pisa
Country: Italy

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. doi request reprint Oxidative stress biomarkers in patients with untreated obstructive sleep apnea syndrome
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Sleep Med 13:632-6. 2012
  7. 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
  8. ncbi request reprint DNMT3B promoter polymorphisms and risk of late onset Alzheimer's disease
    Fabio Coppede
    Faculty of Medicine, University of Pisa, Italy
    Curr Alzheimer Res 9:550-4. 2012
  9. 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
  10. pmc Mapping cortical degeneration in ALS with magnetization transfer ratio and voxel-based morphometry
    Mirco Cosottini
    Department of Neuroscience, University of Pisa, Pisa, Italy
    PLoS ONE 8:e68279. 2013

Detail Information

Publications98

  1. 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..
  2. 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...
  3. 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...
  4. 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...
  5. 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...
  6. doi request reprint Oxidative stress biomarkers in patients with untreated obstructive sleep apnea syndrome
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Sleep Med 13:632-6. 2012
    ..The pathogenic role of oxidative stress in obstructive sleep apnea syndrome (OSAS) is still a matter of debate, with different studies obtaining contrasting results...
  7. 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...
  8. ncbi request reprint DNMT3B promoter polymorphisms and risk of late onset Alzheimer's disease
    Fabio Coppede
    Faculty of Medicine, University of Pisa, Italy
    Curr Alzheimer Res 9:550-4. 2012
    ..Overall, present results do not support a major role for rs2424913 or rs1569686 in LOAD pathogenesis...
  9. 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...
  10. pmc Mapping cortical degeneration in ALS with magnetization transfer ratio and voxel-based morphometry
    Mirco Cosottini
    Department of Neuroscience, University of Pisa, Pisa, Italy
    PLoS ONE 8:e68279. 2013
    ..MT imaging changes exist beyond volume loss in frontotemporal cortices. ..
  11. 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...
  12. doi request reprint Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls
    Fabio Coppede
    Faculty of Medicine, University of Pisa, Pisa, Italy
    Antioxid Redox Signal 17:195-204. 2012
    ..Moreover, we searched for correlation between each of the studied polymorphisms and available data on plasma homocysteine (Hcy), serum folate, and vitamin B12 values...
  13. doi request reprint Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurol Sci 33:449-52. 2012
    ..Our study supports the variability of the clinical expression of MD. Further studies are needed to better understand the molecular basis underlying the phenotypic variability among MD patients...
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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
    ....
  21. 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...
  22. doi request reprint Oxidative stress treatment for clinical trials in neurodegenerative diseases
    Elena Caldarazzo Ienco
    Department of Neuroscience, Clinical Neurology, University of Pisa, Pisa, Italy
    J Alzheimers Dis 24:111-26. 2011
    ..Here we review the antioxidant approaches performed so far in neurodegenerative diseases and the future challenges in modern medicine...
  23. 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...
  24. doi request reprint Clock T3111C and Per2 C111G SNPs do not influence circadian rhythmicity in healthy Italian population
    Anna Choub
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    Neurol Sci 32:89-93. 2011
    ..Present results do not support a role of these polymorphisms in the circadian phenotypes...
  25. doi request reprint "Mitochondrial neuropathies": A survey from the large cohort of the Italian Network
    Michelangelo Mancuso
    Neurological Clinic, University of Pisa, Pisa, Italy Electronic address
    Neuromuscul Disord 26:272-6. 2016
    ..Furthermore, the presence or absence of peripheral neuropathy, as well as its specific forms and the association with neuropathic pain (indicative of a POLG-associated disease) can guide the molecular analysis. ..
  26. doi request reprint Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa
    Clin Neurol Neurosurg 120:14-9. 2014
    ..Moreover, we aim to study the minimum prevalence of HSP in our area and to propose a schematic diagnostic approach to HSP patients based on the available data from the literature...
  27. ncbi request reprint Vascular factors and mitochondrial dysfunction: a central role in the pathogenesis of Alzheimer's disease
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Curr Neurovasc Res 10:76-80. 2013
    ..In this short review we revise the link between vascular factors and mitochondrial dysfunction in AD pathogenesis...
  28. 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
    ....
  29. 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)...
  30. 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...
  31. 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...
  32. doi request reprint The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
    Michelangelo Mancuso
    Neurological Clinic, University of Pisa, Via Roma 67, 56100, Pisa, Italy
    J Neurol 261:504-10. 2014
    ..A better elucidation of the complex network linking mitochondrial dysfunction, apoptosis, estrogen effects and stroke-like episodes may hold therapeutic promises. ..
  33. doi request reprint Psychiatric involvement in adult patients with mitochondrial disease
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurol Sci 34:71-4. 2013
    ..Moreover, the possibility of mitochondrial diseases should be considered in patients with psychiatric diseases. Finally, we encourage psychiatric evaluation as a routinary approach to mitochondrial patients...
  34. 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...
  35. doi request reprint A new truncating MPZ mutation associated with a very mild CMT1 B phenotype
    Selina Piazza
    Department of Neuroscience, Neurological Clinic, Pisa, Italy
    Neuromuscul Disord 20:817-9. 2010
    ..Our report expands the number of MPZ mutations and indicates that mutations in exon 4 may cause a mild Charcot-Marie-Tooth type 1B phenotype...
  36. 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...
  37. 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...
  38. pmc Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1
    Sigrid Baldanzi
    Department of Clinical and Experimental Medicine, University of Pisa, Via Savi 10, 56126 Pisa, Italy
    Neuroimage Clin 12:190-7. 2016
    ..These data suggest that disrupted complex neuronal networks can underlie cognitive-behavioural dysfunctions in DM1. ..
  39. doi request reprint Redefining phenotypes associated with mitochondrial DNA single deletion
    Michelangelo Mancuso
    Neurological Clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    J Neurol 262:1301-9. 2015
    ..We believe that the new phenotype definitions implemented here may contribute to a more homogeneous patient categorization, which will be useful in future cohort studies of natural history and clinical trials...
  40. doi request reprint Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus
    Michelangelo Mancuso
    Department of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy
    Am J Med Genet A 164:2922-5. 2014
    ....
  41. pmc A pilot study evaluating the contribution of SLC19A1 (RFC-1) 80G>a polymorphism to Alzheimer's disease in Italian Caucasians
    Fabio Coppede
    Division of Medical Genetics, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Medical School, Via Roma 56, 56126 Pisa, Italy
    Biomed Res Int 2014:608104. 2014
    ..Present results do not support a role for the RFC-1 c.80G>A polymorphism as independent risk factor for sporadic AD in Italian Caucasians...
  42. pmc Lack of association between nuclear factor erythroid-derived 2-like 2 promoter gene polymorphisms and oxidative stress biomarkers in amyotrophic lateral sclerosis patients
    Annalisa Logerfo
    Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Savi 10, 56126 Pisa, Italy
    Oxid Med Cell Longev 2014:432626. 2014
    ....
  43. pmc Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes
    Giulia Ricci
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Neuromuscul Disord 22:534-40. 2012
    ..We discuss the hypothesis that the two genetic mutations may exert a synergistic effect in determining the phenotype observed in this patient...
  44. 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...
  45. 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
    ....
  46. 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...
  47. 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...
  48. doi request reprint Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy
    Michela Tosetti
    Department of Developmental Neuroscience and MR Laboratory, IRCCS Stella Maris, viale del Tirreno 331, 56128 Calambrone, Pisa, Italy
    Muscle Nerve 44:816-9. 2011
    ..We also observed increased reliance upon anaerobic metabolism during sustained submaximal contraction and maintenance of oxidative function during recovery...
  49. 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...
  50. doi request reprint Myoclonus in mitochondrial disorders
    Michelangelo Mancuso
    Neurological Clinic, University of Pisa, Pisa, Italy
    Mov Disord 29:722-8. 2014
    ..Finally, this study reinforces the notion that myoclonus is not inextricably linked to epilepsy in MERRF patients, and therefore the term "myoclonic epilepsy" seems inadequate and potentially misleading...
  51. pmc Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
    Giulia Ricci
    1 Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Brain 136:3408-17. 2013
    ..These results indicate that the identification of new susceptibility factors for this disease will require an accurate classification of families...
  52. doi request reprint Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
    Michelangelo Mancuso
    Neurological Clinic, University of Pisa, Pisa, Italy
    Neurology 80:2049-54. 2013
    ..The primary aim of this study was the characterization of a large cohort of patients with the 8344A>G mutation. The secondary aim was revision of the previously published data...
  53. doi request reprint Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neuromuscul Disord 22:767-70. 2012
    ..The time course could support a main role for capecitabine, which may have some neurotoxic effects (more frequently central), but a detrimental interaction between the two drugs cannot be ruled out and further studies are needed...
  54. 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...
  55. 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...
  56. 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...
  57. pmc Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
    Sigrid Baldanzi
    Department of Clinical and Experimental Medicine, Neurological Unit, University of Pisa, Via Roma 67, 56126, Pisa, Italy
    Orphanet J Rare Dis 11:34. 2016
    ....
  58. doi request reprint Evidences of Reduced Antioxidant Activity in Patients With Chronic Migraine and Medication-Overuse Headache
    Cinzia Lucchesi
    Department of Clinical and Experimental Medicine, Institute of Neurology, University of Pisa, Pisa, Italy
    Headache 55:984-91. 2015
    ....
  59. doi request reprint Cardiac involvement in chronic progressive external ophthalmoplegia
    Fabio Galetta
    Department of Clinical and Experimental Medicine, University of Pisa, Italy
    J Neurol Sci 345:189-92. 2014
    ..Although cardiac involvement in PEO is generally considered to be limited to the cardiac conduction system, left ventricular dysfunction may be present and should receive more attention in the management of these patients...
  60. doi request reprint Advances in molecular diagnostics for mitochondrial diseases
    Michelangelo Mancuso
    University of Pisa, Neurological Clinic, Department of Neuroscience, Via Roma 67, 56126 Pisa, Italy 0039 050 992440 0039 050 554808
    Expert Opin Med Diagn 3:557-69. 2009
    ..Molecular soluble markers of mitochondrial dysfunction, at rest and during exercise, can identify the impairment of the aerobic system in MD, but a reliable biomarker for the screening or diagnosis of MD is still needed...
  61. doi request reprint Structural and functional evaluation of cortical motor areas in Amyotrophic Lateral Sclerosis
    Mirco Cosottini
    Department of Neuroscience, University of Pisa, Pisa, Italy
    Exp Neurol 234:169-80. 2012
    ..However, the concomitant fronto-parietal cortical atrophy arises the possibility that such a hyper-activation reflects cortical hyper-excitability due to loss of inhibitory inter-neurons...
  62. doi request reprint Fabry disease with atypical neurological presentation: report of a case
    Costanza Simoncini
    Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy
    Neurologist 18:413-4. 2012
    ..Neurological complications include central nervous system involvement with cerebrovascular disease, peripheral neuropathy, and autonomic dysfunction...
  63. doi request reprint Drugs and mitochondrial diseases: 40 queries and answers
    Michelangelo Mancuso
    University of Pisa, Neurological Clinic, Department of Neuroscience, Via Roma 67, 56126 Pisa, Italy
    Expert Opin Pharmacother 13:527-43. 2012
    ..However, their role in the treatment of the majority of mitochondrial diseases is still unclear. Furthermore, some drugs may potentially have detrimental effects on mitochondrial dysfunction...
  64. doi request reprint POLG1-related and other "mitochondrial Parkinsonisms": an overview
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    J Mol Neurosci 44:17-24. 2011
    ..Lastly, we try to introduce a possible diagnostic approach for patients with parkinsonism and suspected mitochondrial disorder...
  65. 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...
  66. pmc Mitochondrial DNA sequence variation and neurodegeneration
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy
    Hum Genomics 3:71-8. 2008
    ..In this review, some of the major neurodegenerative disorders are highlighted and the role of mitochondrial haplogroups in the pathogenetic cascade leading to these diseases is discussed...
  67. pmc Evidence of increased restless legs syndrome occurrence in chronic and highly disabling migraine
    Cinzia Lucchesi
    Institute of Neurology, Department of Neurosciences, University of Pisa, Italy
    Funct Neurol 27:91-4. 2012
    ..These findings could have important therapeutic and prognostic implications in clinical practice...
  68. 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...
  69. 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
    ....
  70. 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...
  71. ncbi request reprint MERRF syndrome without ragged-red fibers: the need for molecular diagnosis
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Biochem Biophys Res Commun 354:1058-60. 2007
    ..The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings...
  72. 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
    ....
  73. doi request reprint Human dental pulp stem cells protect mouse dopaminergic neurons against MPP+ or rotenone
    Claudia Nesti
    RRMR CUCCS Rete Regionale di Medicina Rigenerativa Center for the Clinical Use of Stem Cells, Italy Stella Maris Scientific Institute, Pisa, Italy
    Brain Res 1367:94-102. 2011
    ..Blocking BDNF and NGF with neutralizing antibodies, the neuroprotecting effect of DPSCs was completely abolished. Therefore DPSCs can be viewed as possible candidates for studies on cell-based therapy in neurodegenerative disorders...
  74. pmc May "mitochondrial eve" and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease?
    Elena Caldarazzo Ienco
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Int J Alzheimers Dis 2011:709061. 2011
    ..Here, we highlight the role of the mitochondrial haplogroups in the pathogenetic cascade leading to diseases, with special attention to Alzheimer's disease...
  75. doi request reprint Inflammatory myopathy in a patient with postural and kinetik tremor
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy
    Neurol Sci 32:1175-8. 2011
    ..Our case suggests that in patients with isolated postural and kinetic tremor routine laboratory assays should include CK blood screening...
  76. pmc Tetracyclines and neuromuscular disorders
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy, Via Roma
    Curr Neuropharmacol 10:134-8. 2012
    ..Here, we review the neuroprotective effects of tetracyclines in animal models, the clinical studies in humans, and we focus on their potential application in patients with neuromuscular disorders...
  77. 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
  78. 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
  79. ncbi request reprint Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy
    Mirco Cosottini
    Department of Neuroscience, University of Pisa, Via Roma 67, 56100 Pisa, Italy
    Radiology 237:258-64. 2005
    ....
  80. 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...
  81. 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...
  82. 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
    ....
  83. 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...
  84. 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...
  85. pmc Current and emerging treatment options in the management of Friedreich ataxia
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy
    Neuropsychiatr Dis Treat 6:491-9. 2010
    ..In this review, we try to provide an answer to some questions related to current and emerging treatment options in the management of FRDA...
  86. doi request reprint Serum gamma-glutamyltransferase fractions in myotonic dystrophy type I: differences with healthy subjects and patients with liver disease
    Maria Franzini
    Scuola Superiore S Anna, Pisa, Italy
    Clin Biochem 43:1246-8. 2010
    ..Elevation of serum gamma-glutamyltransferase (GGT), in absence of a clinically significant liver damage, is often found in Myotonic Dystrophy type-1 (DM1). In this study we investigated if a specific GGT fraction pattern is present in DM1...
  87. 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...
  88. 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...
  89. 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...
  90. doi request reprint Cognitive impairment and McArdle disease: Is there a link?
    M Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Neuromuscul Disord 21:356-8. 2011
    ..Further studies are needed to assess the prevalence of central neurological manifestations in this disease...
  91. ncbi request reprint Phenotype modulators in myophosphorylase deficiency
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy
    Ann Neurol 53:497-502. 2003
    ..We show that ACE insertion/deletion polymorphism may play a significant role as phenotype modulator in McArdle's disease...
  92. ncbi request reprint SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
    Stefania 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...
  93. ncbi request reprint Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I
    Chiara A Boito
    Department of Neurosciences, University of Padova, Italy
    Arch Neurol 62:1894-9. 2005
    ..Limb-girdle muscular dystrophy type 2I is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in alpha-dystroglycan glycosylation...
  94. 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...
  95. ncbi request reprint Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients
    Alberto Ferri
    Ist di Neuroscienze CNR, Sez Psicobiologia e Psicofarmacologia, Rome, Italy
    J Neurochem 90:1237-42. 2004
    ..These data confirm that modification of calcineurin activity and possibly of calcineurin-mediated pathways of signal transduction (including modulation of apoptotic neuronal death) may contribute to the pathogenesis of ALS...
  96. ncbi request reprint Absence of angiogenic genes modification in Italian ALS patients
    Roberto Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
    Neurobiol Aging 29:314-6. 2008
    ..Overall, our data argue against the hypothesis of both genes as risk factors for motoneuron neurodegeneration, at least in an Italian population...
  97. ncbi request reprint A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis
    Michelangelo Mancuso
    Department of Neurology, Columbia University, College of Physicians and Surgeons, New York, USA
    Amyotroph Lateral Scler Other Motor Neuron Disord 3:215-8. 2002
    ....
  98. ncbi request reprint Antimyoclonic effect of levetiracetam in MERRF syndrome
    Michelangelo Mancuso
    Neurophysiopathology Unit, Hospital of Pontedera, Italy
    J Neurol Sci 243:97-9. 2006
    ..LEV may benefit myoclonus in PME of mitochondrial origin without altering mitochondrial function, and it could be considered the drug of first choice for the treatment of myoclonus in MERRF...