M Mancuso

Summary

Country: Italy

Publications

  1. ncbi 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
  2. ncbi Abdominal pseudohernia caused by herpes zoster truncal D12 radiculoneuropathy
    Michelangelo Mancuso
    Unit of Neurophysiopathology, Hospital Lotti, 56126 Pontedera, Italy
    Arch Neurol 63:1327. 2006
  3. ncbi Mitochondria and neurodegeneration
    Lucia Petrozzi
    Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
    Biosci Rep 27:87-104. 2007
  4. ncbi 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. ncbi Antimyoclonic effect of levetiracetam in MERRF syndrome
    Michelangelo Mancuso
    Neurophysiopathology Unit, Hospital of Pontedera, Italy
    J Neurol Sci 243:97-9. 2006
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Detail Information

Publications96

  1. ncbi 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...
  2. ncbi Abdominal pseudohernia caused by herpes zoster truncal D12 radiculoneuropathy
    Michelangelo Mancuso
    Unit of Neurophysiopathology, Hospital Lotti, 56126 Pontedera, Italy
    Arch Neurol 63:1327. 2006
  3. ncbi Mitochondria and neurodegeneration
    Lucia Petrozzi
    Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
    Biosci Rep 27:87-104. 2007
    ....
  4. ncbi 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. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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...
  10. ncbi 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...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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"...
  14. ncbi 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...
  15. ncbi 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...
  16. ncbi 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...
  17. ncbi 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...
  18. ncbi 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...
  19. ncbi 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...
  20. ncbi 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 Anti-Ri-associated paraneoplastic cerebellar degeneration. Report of a case and revision of the literature
    Michelangelo Mancuso
    Neurological Institute University of Pisa
    Arch Ital Biol 149:318-22. 2011
    ..Further studies must be directed to better characterize the mechanisms underlying this syndrome. Finally, paraneoplastic neurological syndromes should be kept in mind also when a neoplastic disease is not demonstrated...
  22. ncbi 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...
  23. ncbi 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
    ....
  24. ncbi 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...
  25. ncbi A novel mitochondrial tRNAPhe mutation causes MERRF syndrome
    M Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Neurology 62:2119-21. 2004
    ..This report shows that typical MERRF syndrome is not always associated with tRNA lysine mutations...
  26. ncbi 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...
  27. ncbi 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...
  28. ncbi 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...
  29. ncbi 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
    ....
  30. ncbi 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
    ....
  31. ncbi 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...
  32. ncbi POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness
    M Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Neurology 62:316-8. 2004
    ..These mutations were not detected in 120 healthy control subjects...
  33. ncbi 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
    ....
  34. ncbi 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...
  35. ncbi 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
    ....
  36. ncbi 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
    ....
  37. ncbi 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...
  38. ncbi 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...
  39. ncbi 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...
  40. ncbi 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...
  41. ncbi Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    J Neurol Sci 228:93-7. 2005
    ..Previously described patients with the same mutation also showed congenital or late-onset myopathy. Diabetes is frequently associated with both phenotypes and is a clinical clue to the molecular diagnosis...
  42. ncbi 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...
  43. ncbi 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...
  44. ncbi 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...
  45. ncbi Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene
    Michelangelo Mancuso
    Department of Neurology, 4 420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    J Neurol Sci 209:61-3. 2003
    ..This mutation fulfills all accepted criteria for pathogenicity...
  46. ncbi 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...
  47. ncbi Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies
    Massimiliano Filosto
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Ann Neurol 54:524-6. 2003
    ..We did not observe paternal inheritance in any of our patients...
  48. ncbi Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma
    Massimiliano Filosto
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 60:1279-84. 2003
    ..Mutations in POLG can also cause autosomal recessive PEO, which is often associated with multisystemic disorders...
  49. ncbi 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
    ....
  50. ncbi 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
    ....
  51. ncbi 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...
  52. ncbi 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...
  53. ncbi Does sphenopalatine endoscopic ganglion block have an effect in paroxysmal hemicrania? A case report
    N Morelli
    Neurology Unit, Guglielmo da Saliceto Hospital, Piacenza, Italy
    Cephalalgia 30:365-7. 2010
    ..SPG blockade could be considered a reasonable alternative in drug-resistant PH cases where indomethacin is contraindicated...
  54. ncbi 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...
  55. ncbi Multiple cranial nerve palsies in testicular lymphoma: report of a case
    Nicola Morelli
    Institute of Neurology, Department of Neurosciences, University of Pisa, Pisa, Italy
    Neurologist 13:222-4. 2007
    ..A paraneoplastic syndrome has been reported and may precede diagnosis of testicular cancer. A delay in diagnosis results in more advanced stage at clinical presentation and resultant poor outcome...
  56. ncbi 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...
  57. ncbi 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...
  58. ncbi Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Arch Neurol 60:1007-9. 2003
    ..Mutations in 2 genes involved in deoxyribonucleotide metabolism, the deoxyguanosine kinase gene (DGK) and the thymidine kinase 2 gene (TK2), have been related to this syndrome...
  59. ncbi Mitochondrial diseases: a nosological update
    M Filosto
    Neurological Clinic, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili of Brescia, Brescia, Italy
    Acta Neurol Scand 115:211-21. 2007
    ..We report an updated classification, briefly review the main clinical syndromes and describe the most recent genetic knowledge...
  60. ncbi 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...
  61. ncbi Mitochondrial encephalomyopathies: diagnostic approach
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians Surgeons, New York, New York 10032, USA
    Ann N Y Acad Sci 1011:217-31. 2004
    ..The ultimate goal is to reach, whenever possible, a definitive molecular diagnosis, which permits rational genetic counseling and a prenatal diagnosis...
  62. ncbi 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...
  63. ncbi 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
    ....
  64. ncbi 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...
  65. ncbi Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA
    M Mancuso
    Department of Neurology, P and S Building 5 431, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Neurology 59:1197-202. 2002
    ..Mutations in TK2 have been associated with the myopathic form of MDS, and mutations in dGK with the hepatoencephalopathic form...
  66. ncbi Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF
    Ali B Naini
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 62:473-6. 2005
    ..CONCLUSIONS: These data confirm that ND5 is a genetic hot spot for overlap syndromes, including MELAS and strokelike and myoclonus epilepsy with ragged-red fibers...
  67. ncbi Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency
    Stacey K H Tay
    Departments of Neurology, Genetics and Development, and Pathology, Columbia University College of Physicians and Surgeons, 630 W 168th Street, New York, NY 10032, USA
    Arch Neurol 61:1935-7. 2004
    ..Despite this progress, the molecular basis of COX deficiency remains elusive in many patients, justifying the identification and screening of additional COX assembly genes, such as COX16, COX19, and PET191...
  68. ncbi A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Arch Neurol 61:1777-9. 2004
    ..Extrapyramidal signs have been rarely described...
  69. ncbi 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...
  70. ncbi Early-onset familial parkinsonism due to POLG mutations
    Guido Davidzon
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Ann Neurol 59:859-62. 2006
    ..INTERPRETATION: POLG mutations can cause early-onset parkinsonism in the absence of progressive external ophthalmoplegia...
  71. ncbi Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 60:1445-7. 2003
    ....
  72. ncbi 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...
  73. ncbi Quality of neurology residency programmes: an Italian survey
    D M Bonifati
    Department of Neuroscience, University of Padova, Padova, Italy
    Eur J Neurol 10:301-6. 2003
    ..We conclude that there is marked heterogeneity in training programmes between different centres. Some important activities such as seminars and rotation in neurophysiology are performed poorly...
  74. ncbi Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)
    G Meola
    Department of Neurology, University of Milan, San Donato Hospital, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy
    Neuromuscul Disord 13:813-21. 2003
    ..The results suggest that there is a specific cognitive and behavioural profile in PROMM/DM-2 and in DM-1, and that this profile is associated with hypoperfusion in frontal and parieto-occipital regions of the brain...
  75. ncbi Reversible brachial diplegia in a case treated with cyclosporine
    N Morelli
    Department of Neurosciences, Institute of Neurology, Pisa, Italy
    Neurology 69:220. 2007
  76. ncbi 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
  77. ncbi Mitochondrial diseases: therapeutic approaches
    Salvatore DiMauro
    College of Physicians and Surgeons, Department of Neurology, Columbia University Medical Center, NewYork, NY 10032, USA
    Biosci Rep 27:125-37. 2007
    ..Progress in each of these approaches provides some glimmer of hope for the future, although much work remains to be done...
  78. ncbi New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 62:745-7. 2005
    ..To document novel homozygous mutations in the gene for deoxyguanosine kinase (DGK) in 3 children with mitochondrial DNA depletion...
  79. ncbi Mitochondrial encephalomyopathies: therapeutic approach
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians Surgeons, New York, New York 10032, USA
    Ann N Y Acad Sci 1011:232-45. 2004
    ..Preventive therapy through genetic counseling and prenatal diagnosis is still limited for mtDNA-related disorders but is becoming increasingly important for nDNA-related disorders...
  80. ncbi 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
    ..06 nM versus 5.63 +/- 0.46 nM, p< 0.05). CONCLUSIONS: These data suggest that the kinetic binding parameters of PBR are altered in MD and that the observed changes might be related to the mitochondrial dysfunction associated with MD...
  81. ncbi Mitochondrial DNA depletion and dGK gene mutations
    Leonardo Salviati
    Department of Neurology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Ann Neurol 52:311-7. 2002
    ..The patient with the missense mutations had isolated liver failure and responded well to liver transplantation, which may be a therapeutic option in selected cases...
  82. ncbi Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights
    Michelangelo Mancuso
    Department of Neurology, Columbia College of Physicians and Surgeons, New York, New York, USA
    J Neuropathol Exp Neurol 64:280-94. 2005
    ..Biochemical and immunohistochemical abnormalities in mitochondria also were demonstrated, probably due to an imbalance in iron homeostasis that had a deleterious effect on the respiratory chain...
  83. ncbi POLG mutations and Alpers syndrome
    Guido Davidzon
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Ann Neurol 57:921-3. 2005
    ..We conclude that AHS should be included in the clinical spectrum of mtDNA depletion and is often associated with POLG mutations, which can cause either multiple mtDNA deletions or mtDNA depletion...
  84. ncbi Vertebral artery dissection onset mimics migraine with aura in a graphic designer
    Nicola Morelli
    University Centre for Adaptive Disorders and Headache UCADH, Institute of Neurology, Department of Neurosciences, University of Pisa, Pisa, Italy
    Headache 48:621-4. 2008
    ..The suggestion of VD dissection should be kept in mind in those cases complaining of the first attack of headache that mimics migraine with aura. In these cases, an extensive neuroimaging study is advisable...
  85. ncbi 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
    ....
  86. ncbi Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease
    Francesca Bosetti
    Scuola Superiore di Studi Universitari e di Perfezionamento S Anna, Via G Carducci 40, 56127 Pisa, Italy
    Neurobiol Aging 23:371-6. 2002
    ..A reduced COX activity may make the tissue vulnerable to excitotoxicity or reduced oxygen availability...
  87. ncbi Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
    Massimiliano Filosto
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Italy
    Neuromuscul Disord 18:204-9. 2008
    ..This is the first reported case of mitochondrial myopathy/facioscapulohumeral muscular dystrophy (FSHD) "double trouble"...
  88. ncbi Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1
    Silvio Ferraris
    Department of Pediatrics, University of Turin, Turin, Italy
    Arch Neurol 65:125-31. 2008
    ..To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase gamma (POLG2) and a mutation in the OPA1 gene...
  89. ncbi The mtDNA A8344G "MERRF" mutation is not a common cause of sporadic Parkinson disease in Italian population
    Michelangelo Mancuso
    Parkinsonism Relat Disord 14:381-2. 2008
  90. ncbi Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: case study and effect of deep brain stimulation
    Maria Stella Aniello
    Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    Mov Disord 23:114-8. 2008
    ..Globus pallidus interna deep brain stimulation produced sustained benefit, with predominant improvements in disability...
  91. ncbi Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation
    Massimiliano Filosto
    Department of Neurological and Visual Sciences, Section of Neurology, University of Verona, Policlinico GB Rossi, 37134, Verona, Italy
    Acta Neuropathol 108:168-71. 2004
    ..Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement...
  92. ncbi Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy
    Fuki M Hisama
    Am J Med Genet A 135:217-9. 2005
  93. ncbi 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...
  94. ncbi P301L Tau mutation and non-Alzheimer dementias in Italy
    Michelangelo Mancuso
    Acta Neurol Scand 108:379-80. 2003
  95. ncbi Neurology residency training in Europe: an Italian perspective
    Maurizio Facheris
    Department of Neuroscience and Biomedical Technologies, University of Milano Bicocca, Via Donizetti 106, 20052 Monza, Italy
    Lancet Neurol 4:258-62. 2005
    ....
  96. ncbi Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia
    Angela Magariello
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Neuromuscul Disord 16:387-90. 2006
    ..1322-2A>C). The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%. This study contributes to expand the spectrum of SPG4 mutations in Italian population...