Amalia C Bruni

Summary

Country: Italy

Publications

  1. pmc Somatic comorbidities and Alzheimer's disease treatment
    Alessandra Clodomiro
    Regional Neurogenetic Centre, ASP Catanzaro, 88046, Lamezia Terme CZ, Italy
    Neurol Sci 34:1581-9. 2013
  2. pmc The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring
    Giuseppina Rose
    Department of Cell Biology, University of Calabria, 87036 Rende, Italy
    BMC Genomics 8:293. 2007
  3. pmc Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation
    A C Bruni
    Centro Regionale di Neurogenetica, Azienda Sanitaria Provinciale Catanzaro, Viale A Perugini, 88046 Lamezia Terme CZ, Italy
    Neurology 74:798-806. 2010
  4. ncbi request reprint Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
    Amalia C Bruni
    Regional Neurogenetic Center AS6, Lamezia Terme, Italy
    Arch Neurol 61:1314-20. 2004
  5. ncbi request reprint Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation
    A C Bruni
    Regional Neurogenetic Centre, Lamezia Terme, CZ, Italy
    Neurology 69:140-7. 2007
  6. ncbi request reprint Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation
    Livia Bernardi
    Regional Neurogenetic Centre, ASP CZ, Lamezia Terme CZ, Italy
    J Alzheimers Dis 37:285-9. 2013
  7. doi request reprint Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia
    Livia Bernardi
    Regional Neurogenetic Centre, ASP Catanzaro, Lamezia Terme CZ, Italy
    Neurobiol Aging 30:1825-33. 2009
  8. doi request reprint A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features
    Maura Gallo
    Centro Regionale di Neurogenetica, ASP Catanzaro, Lamezia Terme CZ, Italy
    J Alzheimers Dis 25:425-31. 2011
  9. ncbi request reprint Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy
    Livia Bernardi
    Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy
    Neurobiol Aging 33:2948.e1-2948.e10. 2012
  10. doi request reprint PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype
    Livia Bernardi
    Regional Neurogenetic Centre, ASP CZ Lamezia Terme CZ, Italy
    J Alzheimers Dis 24:415-9. 2011

Collaborators

Detail Information

Publications23

  1. pmc Somatic comorbidities and Alzheimer's disease treatment
    Alessandra Clodomiro
    Regional Neurogenetic Centre, ASP Catanzaro, 88046, Lamezia Terme CZ, Italy
    Neurol Sci 34:1581-9. 2013
    ....
  2. pmc The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring
    Giuseppina Rose
    Department of Cell Biology, University of Calabria, 87036 Rende, Italy
    BMC Genomics 8:293. 2007
    ....
  3. pmc Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation
    A C Bruni
    Centro Regionale di Neurogenetica, Azienda Sanitaria Provinciale Catanzaro, Viale A Perugini, 88046 Lamezia Terme CZ, Italy
    Neurology 74:798-806. 2010
    ..Recently, several other EOFAD families with the same mutation have been described worldwide...
  4. ncbi request reprint Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
    Amalia C Bruni
    Regional Neurogenetic Center AS6, Lamezia Terme, Italy
    Arch Neurol 61:1314-20. 2004
    ..Spinocerebellar ataxia type 17 is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in the TATA box-binding protein gene. Ataxia is typically the first sign whereas behavioral symptoms occur later...
  5. ncbi request reprint Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation
    A C Bruni
    Regional Neurogenetic Centre, Lamezia Terme, CZ, Italy
    Neurology 69:140-7. 2007
    ..Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN)...
  6. ncbi request reprint Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation
    Livia Bernardi
    Regional Neurogenetic Centre, ASP CZ, Lamezia Terme CZ, Italy
    J Alzheimers Dis 37:285-9. 2013
    ..Our results suggest that, in the presence of the PSEN1 mutation, the slight difference in age of onset together with memory performance could be influenced by TOMM40 genotypes. ..
  7. doi request reprint Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia
    Livia Bernardi
    Regional Neurogenetic Centre, ASP Catanzaro, Lamezia Terme CZ, Italy
    Neurobiol Aging 30:1825-33. 2009
    ..Mutations in two genes, Microtubule Associated Protein Tau (MAPT) and Progranulin (PGRN), and rarely Presenilin mutations, have been causally linked to this disorder...
  8. doi request reprint A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features
    Maura Gallo
    Centro Regionale di Neurogenetica, ASP Catanzaro, Lamezia Terme CZ, Italy
    J Alzheimers Dis 25:425-31. 2011
    ..The peculiarity of the age at onset (not very early), the long course, and the frontal involvement, together with the rather complete absence of Aβ40 and of amyloid angiopathy, widen the spectrum of PSEN1-linked phenotypes...
  9. ncbi request reprint Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy
    Livia Bernardi
    Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy
    Neurobiol Aging 33:2948.e1-2948.e10. 2012
    ..We report an unusually high FTD prevalence in the investigated population, but a low prevalence of Alzheimer's disease. We confirm the heterogeneity of FTD phenotype associated with different GRN mutations...
  10. doi request reprint PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype
    Livia Bernardi
    Regional Neurogenetic Centre, ASP CZ Lamezia Terme CZ, Italy
    J Alzheimers Dis 24:415-9. 2011
    ..Genetic screening of the PRNP gene becomes of major importance in early onset autosomal dominant dementia...
  11. ncbi request reprint Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population
    Maria Anfossi
    Centro Regionale di Neurogenetica, ASP Catanzaro, Lamezia Terme CZ, Italy
    J Alzheimers Dis 38:351-7. 2014
    ..LRRK2 mutations are common in familial and sporadic Parkinson's disease (PD) cases. Objective: We present a screening of the most frequently mutated exons of LRRK2 in Calabrian population...
  12. doi request reprint Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia
    Maria Anfossi
    Regional Neurogenetic Centre, ASP Catanzaro, Lamezia Terme CZ, Italy
    Neurobiol Aging 32:757.e1-757.e11. 2011
    ..The compound heterozygosity of the patient increasing 3Rtau seems to be responsible for the disease and furthermore suggests that sporadic cases can be caused by genetic mutations...
  13. doi request reprint AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions
    Livia Bernardi
    Regional Neurogenetic Centre, ASP Catanzaro, Lamezia Terme CZ, Italy
    J Alzheimers Dis 17:383-9. 2009
    ..The identification of these patients suggests that genetic epidemiology in large cohorts of familial late onset AD with CVLs would increase the probability of identifying AbetaPP mutations...
  14. ncbi request reprint Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population
    Manuela Di Natale
    Centro Regionale di Neurogenetica AS 6, Viale A Perugini, 88046, Lamezia Terme CZ, Italy
    Neurosci Lett 343:210-2. 2003
    ....
  15. ncbi request reprint The effects of APOE and tau gene variability on risk of frontotemporal dementia
    L Bernardi
    Regional Neurogenetic Centre, ASL 6 Viale A Perugini, 88046 Lamezia Terme, CZ, Italy
    Neurobiol Aging 27:702-9. 2006
    ..007)...
  16. doi request reprint Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism
    Livia Bernardi
    J Neurol 255:604-6. 2008
  17. ncbi request reprint Apolipoprotein(a) null phenotype is related to a delayed age at onset of Alzheimer's disease
    Enzo Emanuele
    Molecular Medicine Laboratory, IRCCS Policlinico San Matteo, Piazzale Golgi 2, University of Pavia, 27100 Pavia, Italy
    Neurosci Lett 357:45-8. 2004
    ..We conclude that the expression of at least one apo(a) isoform may interact with other pathogenic mechanisms involved in controlling the age at onset of AD...
  18. ncbi request reprint Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17
    Elena Salvatore
    Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    Mov Disord 21:872-5. 2006
    ..Dopamine transporter reduction was symmetrical and uniform in caudate and putamen and it correlated with the clinical severity of ataxia...
  19. pmc Association studies between the plasmin genes and late-onset Alzheimer's disease
    Nobuto Shibata
    Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto and Toronto Western Hospital Research Institute, Toronto, Ontario, Canada
    Neurobiol Aging 28:1041-3. 2007
    ..Thus, the current survey does not support the notion that common polymorphisms in the plasmin genes influence the development of AD...
  20. ncbi request reprint Relation of apolipoprotein(a) size to alzheimer's disease and vascular dementia
    Enzo Emanuele
    Molecular Medicine Laboratory, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Dement Geriatr Cogn Disord 18:189-96. 2004
    ..Our results demonstrate that possession of at least one LMW apo(a) isoform is significantly associated with dementia and specifically offer new evidence of a strong association between the lipoprotein system and post-stroke dementia...
  21. ncbi request reprint Nicastrin gene in familial and sporadic Alzheimer's disease
    Annamaria Confaloni
    Laboratory of Metabolism, Istituto Superiore di Sanita, 00161 Rome, Italy
    Neurosci Lett 353:61-5. 2003
    ..We found some differences in the distribution of genotype alterations in the AD population compared to the controls. However, our data together with other evidence did not support the pathological role of missense mutation N417Y...
  22. ncbi request reprint PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases
    Junko Takahashi
    Laboratoire de Neuropathologie Raymond Escourolle, Hopital de la Salpetriere, AP HP, Paris, France
    Neurobiol Dis 13:230-7. 2003
    ..These data suggest that NIIs originate from nuclear bodies, where mutant proteins accumulate for degradation...
  23. ncbi request reprint Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease
    Carmine Tomaino
    J Neurol 254:391-3. 2007