Fabrizio Salvi

Summary

Publications

  1. doi request reprint Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis
    Fabrizio Salvi
    IRCCS Istituto delle Scienze Neurologiche, UOC Neurologia, Centro Il Bene, Bellaria Hospital, Bologna, Italy
    Amyloid 19:58-60. 2012
  2. pmc Guideline of transthyretin-related hereditary amyloidosis for clinicians
    Yukio Ando
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1 1 1 Honjo, Chuo Ku, Kumamoto, 860 8556, Japan
    Orphanet J Rare Dis 8:31. 2013
  3. pmc Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis
    Donato Gemmati
    Department of Biomedical Sciences and Advanced Therapies, Hematology Unit Center Hemostasis and Thrombosis, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:70. 2012
  4. pmc Venous angioplasty in multiple sclerosis: neurological outcome at two years in a cohort of relapsing-remitting patients
    Fabrizio Salvi
    Department of Neurological Science, Bellaria Hospital, Bologna, Italy
    Funct Neurol 27:55-9. 2012
  5. pmc Hypoperfusion of brain parenchyma is associated with the severity of chronic cerebrospinal venous insufficiency in patients with multiple sclerosis: a cross-sectional preliminary report
    Paolo Zamboni
    Vascular Diseases Center, University of Ferrara Bellaria Neurosciences, Ferrara and Bologna, Italy
    BMC Med 9:22. 2011
  6. pmc Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    Adriano Chio
    Department of Neuroscience, University of Turin and Azienda Ospedale Università San Giovanni Battista of Turin, I 10126 Turin, Italy
    Brain 135:784-93. 2012
  7. doi request reprint Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis
    Claudio Rapezzi
    Institute of Cardiology, University of Bologna and S Orsola Malpighi Hospital, Bologna, Italy
    JACC Cardiovasc Imaging 4:659-70. 2011
  8. pmc Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
    Adriano Chio
    Department of Neuroscience, University of Torino, Via Cherasco 15, Turin, Italy
    Arch Neurol 68:594-8. 2011
  9. doi request reprint Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy
    Claudio Rapezzi
    Institute of Cardiology, University of Bologna and Policlinico S Orsola Malpighi Hospital, Bologna, Italy
    Eur J Nucl Med Mol Imaging 38:470-8. 2011
  10. doi request reprint Gender-related risk of myocardial involvement in systemic amyloidosis
    Claudio Rapezzi
    Institute of Cardiology, University of Bologna, Bologna, Italy
    Amyloid 15:40-8. 2008

Detail Information

Publications18

  1. doi request reprint Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis
    Fabrizio Salvi
    IRCCS Istituto delle Scienze Neurologiche, UOC Neurologia, Centro Il Bene, Bellaria Hospital, Bologna, Italy
    Amyloid 19:58-60. 2012
    ....
  2. pmc Guideline of transthyretin-related hereditary amyloidosis for clinicians
    Yukio Ando
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1 1 1 Honjo, Chuo Ku, Kumamoto, 860 8556, Japan
    Orphanet J Rare Dis 8:31. 2013
    ....
  3. pmc Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis
    Donato Gemmati
    Department of Biomedical Sciences and Advanced Therapies, Hematology Unit Center Hemostasis and Thrombosis, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:70. 2012
    ..Conversely, systemic iron overload is not always observed. We explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes in MS patients...
  4. pmc Venous angioplasty in multiple sclerosis: neurological outcome at two years in a cohort of relapsing-remitting patients
    Fabrizio Salvi
    Department of Neurological Science, Bellaria Hospital, Bologna, Italy
    Funct Neurol 27:55-9. 2012
    ..Randomized controlled studies are needed to further assess the clinical effects of endovascular treatment of CCSVI in MS...
  5. pmc Hypoperfusion of brain parenchyma is associated with the severity of chronic cerebrospinal venous insufficiency in patients with multiple sclerosis: a cross-sectional preliminary report
    Paolo Zamboni
    Vascular Diseases Center, University of Ferrara Bellaria Neurosciences, Ferrara and Bologna, Italy
    BMC Med 9:22. 2011
    ..We hypothesized a possible relationship between abnormal perfusion in MS and hampered venous outflow at the extracranial level, a condition possibly associated with MS and known as chronic cerebrospinal venous insufficiency (CCSVI)...
  6. pmc Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    Adriano Chio
    Department of Neuroscience, University of Turin and Azienda Ospedale Università San Giovanni Battista of Turin, I 10126 Turin, Italy
    Brain 135:784-93. 2012
    ..Their pedigrees typically display a high frequency of cases with pure frontotemporal dementia, widening the concept of familial amyotrophic lateral sclerosis...
  7. doi request reprint Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis
    Claudio Rapezzi
    Institute of Cardiology, University of Bologna and S Orsola Malpighi Hospital, Bologna, Italy
    JACC Cardiovasc Imaging 4:659-70. 2011
    ....
  8. pmc Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
    Adriano Chio
    Department of Neuroscience, University of Torino, Via Cherasco 15, Turin, Italy
    Arch Neurol 68:594-8. 2011
    ..To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations...
  9. doi request reprint Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy
    Claudio Rapezzi
    Institute of Cardiology, University of Bologna and Policlinico S Orsola Malpighi Hospital, Bologna, Italy
    Eur J Nucl Med Mol Imaging 38:470-8. 2011
    ..We extended our study to a larger cohort of patients with AC...
  10. doi request reprint Gender-related risk of myocardial involvement in systemic amyloidosis
    Claudio Rapezzi
    Institute of Cardiology, University of Bologna, Bologna, Italy
    Amyloid 15:40-8. 2008
    ..In conclusion, these findings raise the hypothesis that some biological characteristic associated with female gender protects against myocardial involvement in familial ATTR...
  11. 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...
  12. 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...
  13. ncbi request reprint Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?
    Claudio Rapezzi
    Institute of Cardiology, University of Bologna and S Orsola Malpighi Hospital, Bologna, Italy
    Amyloid 13:143-53. 2006
    ..We think that combined heart-liver transplantation could be considered for Glu89Gln carriers with established, morphologically severe cardiomyopathy...
  14. pmc A seasonal periodicity in relapses of multiple sclerosis? A single-center, population-based, preliminary study conducted in Bologna, Italy
    Fabrizio Salvi
    Department of Neuroscience, Multiple Sclerosis Center, Bellaria Hospital, Bologna, Italy
    BMC Neurol 10:105. 2010
    ....
  15. ncbi request reprint Long-term influence of combined oral contraceptive use on the clinical course of relapsing-remitting multiple sclerosis
    Giulia Gava
    Gynecology and Physiopathology of Human Reproduction, University of Bologna and S Orsola Malpighi Hospital, Bologna, Italy
    Fertil Steril 102:116-22. 2014
    ....
  16. ncbi request reprint High MUC2 immunohistochemical expression is a predictor of poor response to preoperative radiochemotherapy (RCT) in rectal adenocarcinoma
    Andrea Ambrosini-Spaltro
    Anatomic Pathology, University of Bologna, Bellaria Hospital, Italy
    Appl Immunohistochem Mol Morphol 16:227-31. 2008
    ....
  17. ncbi request reprint Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome
    Gianluca Marucci
    Section of Pathology, Department of Oncology, University of Bologna, Bellaria Hospital, Via Altura, 3, 40139 Bologna, Italy
    Neuromuscul Disord 17:673-6. 2007
    ..The missense mutation of SOD1 gene in two of the three alleles could have increased its toxic effects in the Down syndrome patient leading to an earlier onset and rapid progression of the disease...
  18. doi request reprint p-ANCA pachymeningitis presenting with isolated "optic neuropathy"
    Fabrizio Salvi
    Centro per le Malattie Rare e Neuroimmuni, Unita Operativa di Neurologia, Dipartimento di Neuroscienze, Ospedale Bellaria, Bologna, Italy
    Neurol Sci 31:639-41. 2010
    ..In conclusion, our case demonstrates that bilateral optic neuropathy may be the presenting symptom of p-ANCA-associated pachymeningitis, whose causative role may be demonstrated by MRI...