E Pegoraro

Summary

Affiliation: University of Padova
Country: Italy

Publications

  1. doi request reprint Sphingomonas paucimobilis associated with localised calf myositis
    E Pegoraro
    Department of Neurosciences, University of Padova, Padova, Italy
    J Neurol Neurosurg Psychiatry 79:1194-5. 2008
  2. pmc Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
    Luca Bello
    Neuromuscular Center, Department of Neurosciences, University of Padova, Padova
    Neurology 79:159-62. 2012
  3. pmc SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
    E Pegoraro
    Neuromuscular Center, Department of Neurosciences, University of Padova, 35128 Padova, Italy
    Neurology 76:219-26. 2011
  4. ncbi request reprint Co-segregation of LMNA and PMP22 gene mutations in the same family
    Elena Pegoraro
    Department of Neurosciences, University of Padova, Via Giustiniani 5, Italy
    Neuromuscul Disord 15:858-62. 2005
  5. ncbi request reprint MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
    Elena Pegoraro
    Department of Neurosciences, University of Padova, Italy
    Neuromuscul Disord 17:321-9. 2007
  6. ncbi request reprint X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients
    Elena Pegoraro
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Am J Med Genet A 119:37-40. 2003
  7. pmc Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology
    Elena Pegoraro
    Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Padova, Italy
    Am J Pathol 160:2135-43. 2002
  8. doi request reprint Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis
    V Orsetti
    Department of Neurosciences, University of Padua, Padua, Italy
    Neurodegener Dis 8:491-5. 2011
  9. ncbi request reprint LGMD2E patients risk developing dilated cardiomyopathy
    M Fanin
    Department of Neurological and Psychiatric Sciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
    Neuromuscul Disord 13:303-9. 2003
  10. doi request reprint Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes
    M Fanin
    Department of Neurosciences, University of Padova, via Giuseppe Orus 2, 35129 Padova, Italy
    Neurology 72:1432-5. 2009

Detail Information

Publications46

  1. doi request reprint Sphingomonas paucimobilis associated with localised calf myositis
    E Pegoraro
    Department of Neurosciences, University of Padova, Padova, Italy
    J Neurol Neurosurg Psychiatry 79:1194-5. 2008
  2. pmc Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
    Luca Bello
    Neuromuscular Center, Department of Neurosciences, University of Padova, Padova
    Neurology 79:159-62. 2012
    ..To test the effect of the single nucleotide polymorphism -66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD)...
  3. pmc SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
    E Pegoraro
    Neuromuscular Center, Department of Neurosciences, University of Padova, 35128 Padova, Italy
    Neurology 76:219-26. 2011
    ..Substantial patient-patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modifiers...
  4. ncbi request reprint Co-segregation of LMNA and PMP22 gene mutations in the same family
    Elena Pegoraro
    Department of Neurosciences, University of Padova, Via Giustiniani 5, Italy
    Neuromuscul Disord 15:858-62. 2005
    ..This study provides further insights into the relevance of lamin A/C in muscle and nerve...
  5. ncbi request reprint MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
    Elena Pegoraro
    Department of Neurosciences, University of Padova, Italy
    Neuromuscul Disord 17:321-9. 2007
    ..In conclusion, phenotypic and histopathological variability may underlie MYH7 gene mutation and the absence of hyaline bodies in muscle biopsies does not rule out MYH7 gene mutations...
  6. ncbi request reprint X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients
    Elena Pegoraro
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Am J Med Genet A 119:37-40. 2003
    ..We found no evidence of skewed X-inactivation in the affected tissues, thus weakening further the hypothesized involvement of a specific X chromosome locus in the pathophysiological expression of LHON...
  7. pmc Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology
    Elena Pegoraro
    Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Padova, Italy
    Am J Pathol 160:2135-43. 2002
    ..We conclude that secondary integrin alpha 7 deficiency is rather common in muscular dystrophy/myopathy of unknown etiology, emphasizing the multiple mechanisms that may modulate integrin function and stability...
  8. doi request reprint Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis
    V Orsetti
    Department of Neurosciences, University of Padua, Padua, Italy
    Neurodegener Dis 8:491-5. 2011
    ....
  9. ncbi request reprint LGMD2E patients risk developing dilated cardiomyopathy
    M Fanin
    Department of Neurological and Psychiatric Sciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
    Neuromuscul Disord 13:303-9. 2003
    ..Careful cardiac monitoring should be carried out in beta-sarcoglycanopathy patients who are at high risk of developing cardiomyopathy...
  10. doi request reprint Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes
    M Fanin
    Department of Neurosciences, University of Padova, via Giuseppe Orus 2, 35129 Padova, Italy
    Neurology 72:1432-5. 2009
    ..The frequency of various limb-girdle muscular dystrophy (LGMD) molecular diagnoses has previously been investigated only in cohorts of patients presenting LGMD phenotype...
  11. doi request reprint Quality of life and motor impairment in ALS: Italian validation of ALSAQ
    A Palmieri
    Department of Neurosciences, University of Padova, Padova, Italy
    Neurol Res 32:32-40. 2010
    ....
  12. doi request reprint Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2
    Vincenzo Romeo
    Department of Neurosciences, School of Medicine, University of Padova, Via Giustiniani, 5, 35128 Padua, Italy
    J Neurol 257:1246-55. 2010
    ..A temporo-insular diffuse lesional pattern, specific for DM1, was found on MRI. This confirms greater expansion size as a risk factor for more extensive brain involvement in DM1...
  13. ncbi request reprint Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
    M Fanin
    Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Neurology 56:660-5. 2001
    ..Mutations in the genes encoding for calpain-3 and dysferlin are responsible for limb-girdle muscular dystrophy (LGMD) type 2A and 2B, the most common forms of autosomal recessive LGMD...
  14. 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
  15. doi request reprint Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I
    A Palmieri
    Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121 Padua, Italy
    J Neurol 258:1312-20. 2011
    ..Abnormal glycosylation of α-dystroglycan in LGMD2I may interfere with brain development and cognitive performances involving the frontal and posterior parietal regions, but does not result in specific brain MRI abnormalities...
  16. ncbi request reprint LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy
    P Prandini
    Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy
    Neurology 63:1118-21. 2004
    ..This patient suggests that modulating factors can be associated with a less severe clinical phenotype in MDC1A...
  17. doi request reprint Emotional Lability in MND: Relationship to cognition and psychopathology and impact on caregivers
    A Palmieri
    Department of Neurosciences, University of Padova, Italy
    J Neurol Sci 278:16-20. 2009
    ..The findings suggest that those involved in the care of MND patients should be more aware of the effects of EL in the management of the disease...
  18. doi request reprint MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies
    R Stramare
    Department of Medical Diagnostic Sciences and Special Therapies, University of Padova, Via Giustiniani 2, 35128, Padova, Italy
    Radiol Med 115:585-99. 2010
    ..The continuous discovery of new subtypes of neuromuscular disorders demands more accurate imaging analyses. We set out to establish the specific patterns of muscular involution using magnetic resonance imaging (MRI)...
  19. ncbi request reprint A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy
    E Pegoraro
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Neurology 55:1128-34. 2000
    ..The reason for the variation in the severity of the clinical phenotype in congenital muscular dystrophy (CMD) with laminin alpha2 deficiency is not known...
  20. doi request reprint CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis
    A Bruson
    Department of Pediatrics, Clinical Genetics Unit, Universita di Padova, Padova, Italy
    Eur J Neurol 19:1373-5. 2012
    ..The AR gene contains a polymorphic CAG trinucleotide repeat, whose expansion over a certain threshold is toxic to motor neurons, causing spinal and bulbar muscular atrophy (SBMA)...
  21. doi request reprint Right hemisphere dysfunction and emotional processing in ALS: an fMRI study
    A Palmieri
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
    J Neurol 257:1970-8. 2010
    ..Such findings may suggest extra-motor neurodegeneration involving key circuits of emotions, mostly negative, commonly involved in FTD...
  22. doi request reprint Epidemiology of ALS in Padova district, Italy, from 1992 to 2005
    V Cima
    Department of Neurosciences, University of Padova, Padova, Italy
    Eur J Neurol 16:920-4. 2009
    ..To analyze ALS incidence over time we conducted a retrospective incidence study in the Padova district of Italy (1992 to 2005). We had previously conducted a survey in the same area in the years 1980-1991...
  23. doi request reprint Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients
    Vincenzo Romeo
    Department of Neurosciences, School of Medicine, University of Padova, Via Giustiniani 5, Padua, Italy
    Neurol Sci 31:757-63. 2010
    ..These abnormalities involve the left more often than the right hemisphere, the frontal lobe more than other lobes. Such abnormalities are more often cortical than subcortical...
  24. pmc The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy
    D M Bonifati
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
    J Neurol Neurosurg Psychiatry 77:1177-9. 2006
    ..Steroid administration is beneficial in Duchenne muscular dystrophy (DMD), but the response, incidence, and the severity of side effects are variable...
  25. ncbi request reprint Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy
    E Pegoraro
    Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, PA, USA
    Neuromuscul Disord 9:323-5. 1999
    ..We suggest that direct gene mutation detection is more reliable than linkage or protein study in the prenatal diagnosis of sarcoglycanopathies...
  26. doi request reprint Natural history of upper motor neuron-dominant ALS
    Gianni Sorarù
    Department of Neurosciences, University of Padova, Italy
    Amyotroph Lateral Scler 11:424-9. 2010
    ..Our findings suggest that there is both a different pattern of disability and longer survival in UMN-dominant ALS compared to classic ALS patients...
  27. doi request reprint TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis
    Gianni Sorarù
    Department of Neurological Sciences, University of Padova, Italy
    Amyotroph Lateral Scler 11:240-3. 2010
    ..Our results suggest that TDP-43 pathology is probably confined to the central nervous system in ALS...
  28. pmc Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II
    Corrado Angelini
    Department of Neurosciences University of Padova Padova Italy
    Ther Adv Neurol Disord 2:143-53. 2009
    ..The use of different clinical parameters in the proposed protocol seems crucial to determine the efficacy of ERT, since not all late-onset patients respond similarly to ERT...
  29. ncbi request reprint Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females
    Gianni Sorarù
    Department of Neurological Sciences, University of Padova, Italy
    J Neurol Sci 264:100-5. 2008
    ..Here we suggest that myopathic changes in SBMA muscle are not only related to denervation and that muscle satellite cells may have a role in the pathogenesis of muscle damage...
  30. doi request reprint Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients
    Arianna Palmieri
    Department of Neurosciences, University of Padova, Via Giustiniani 5, Padua, Italy
    Neurol Sci 31:735-40. 2010
    ..Rorschach test may be an useful tool to assess psychopathological features in ALS. Results of our study highlight the need of an early psychopathological diagnosis and specific psychotherapeutic treatment in patients with ALS...
  31. 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...
  32. doi request reprint Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
    C Angelini
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
    J Neurol 259:952-8. 2012
    ..These results, obtained in a large case series on therapy, indicate a favourable effect of ERT therapy, even in more advanced stage of the disease...
  33. ncbi request reprint Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy
    M Fanin
    Regional Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Hum Mutat 16:13-7. 2000
    ..The recurrence of specific sarcoglycan mutations in Northern Italy is probably due to a founder effect, combined with a relative genetic isolation...
  34. doi request reprint Muscle histopathology in upper motor neuron-dominant amyotrophic lateral sclerosis
    Gianni Sorarù
    Department of Neurological Sciences, University of Padova, Italy
    Amyotroph Lateral Scler 9:287-93. 2008
    ..The extent rather than the presence of LMN signs may allow to categorize patients with motor neuron disease involving mainly UMN into distinct entities...
  35. ncbi request reprint Novel spastin mutations and their expression analysis in two Italian families
    Annamaria Molon
    Department of Neurosciences, University of Padua, Via Giustiniani 5, 35128 Padua, Italy
    Eur J Hum Genet 11:710-3. 2003
    ..These data suggest that varying spastin RNA levels are found in out-of-frame and missense spastin mutations and imply different mechanisms involved in the molecular pathology of SPG4 linked HSP...
  36. doi request reprint Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR
    S Martignago
    Department of Neurosciences, University of Padova, Padova, Italy
    Neuropathol Appl Neurobiol 35:103-10. 2009
    ..While the immunopathogenesis of seropositive MG is well known, there is a lack of pathological studies in anti-MuSK antibody-positive (MuSK+) MG...
  37. ncbi request reprint Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I
    Chiara A Boito
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
    Virchows Arch 451:1047-55. 2007
    ....
  38. ncbi request reprint Expression profiling characterization of laminin alpha-2 positive MDC
    Caterina Millino
    CRIBI Biotechnology Center and Dipartimento di Biologia, Universita degli Studi di Padova, Padova, Italy
    Biochem Biophys Res Commun 350:345-51. 2006
    ..We suggest that expression profiling will provide important information to improve our understanding of the molecular basis of laminin alpha-2 positive MDC...
  39. ncbi request reprint Memory deficits and retrieval processes in ALS
    M C Mantovan
    Department of Neurological and Psychiatric Sciences, University of Padua, Padua, Italy
    Eur J Neurol 10:221-7. 2003
    ..We hypothesize abnormal retrieval processes related to frontal lobe dysfunction which entails difficulties in generating stable long-memory traces at encoding...
  40. ncbi request reprint Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
    Stefano Campanaro
    CRIBI Biotechnology Centre and Dipartimento di Biologia, Universita degli Studi di Padova, Padova, Italy
    Hum Mol Genet 11:3283-98. 2002
    ..There was a major up-regulation of proteins interacting with calcium, namely S100 calcium-binding proteins and sarcolipin, a sarcoplasmic calcium regulator...
  41. ncbi request reprint A pilot trial with clenbuterol in amyotrophic lateral sclerosis
    Gianni Sorarù
    Department of Neurosciences, Neurology Unit, Piove di Sacco Hospital, Padova, Italy
    Amyotroph Lateral Scler 7:246-8. 2006
  42. ncbi request reprint Novel CLCN1 mutations with unique clinical and electrophysiological consequences
    Fen fen Wu
    Department of Human Genetics, University of Pittsburgh, PA, USA
    Brain 125:2392-407. 2002
    ..Our results provide novel insights into functional alterations and clinical symptoms caused by mutations in CLCN1...
  43. ncbi request reprint Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency
    Zivana Tezak
    Research Center for Genetic Medicine, Children s Research Hospital, Washington, DC, USA
    Hum Mutat 21:103-11. 2003
    ..The clinical presentation and disease progression was homogeneous in the laminin alpha2-mutation positive and negative CMD patients...
  44. ncbi request reprint Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
    Marina Bakay
    Research Center for Genetic Medicine, Children s National Medical Center, Washington DC 20010, USA
    Brain 129:996-1013. 2006
    ..Our data is consistent with mutations of nuclear lamina components leading to destabilization of the transcriptome in differentiated cells...
  45. ncbi request reprint Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient
    Elisabetta Gianazza
    Dipartimento di Scienze Farmacologiche, Gruppo di Studio per la Proteomica e la Struttura delle Proteine, Universita degli Studi, Milano, Italy
    Electrophoresis 27:1182-98. 2006
    ....
  46. ncbi request reprint Decorin and biglycan expression is differentially altered in several muscular dystrophies
    Simona Zanotti
    Division of Neuromuscular Diseases and Neuroimmunology, Istituto Nazionale Neurologico C Besta, Milano, Italy
    Brain 128:2546-55. 2005
    ..The significantly lowered decorin levels in DMD and MDC1A may be related to the increased TGF-beta1 levels, suggesting a therapeutic role of decorin in these severe dystrophies...