Emilio Di Maria

Summary

Affiliation: University of Genoa
Country: Italy

Publications

  1. pmc Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia
    Paola Ciotti
    Department of Neuroscience, Ophthalmology, and Genetics, Section of Medical Genetics, University of Genova, c o DIMI Viale Benedetto XV, 6 16132 Genova, Italy
    J Mol Diagn 6:285-9. 2004
  2. doi Genetic variation in the G720/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease
    Emilio Di Maria
    Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy
    J Alzheimers Dis 18:953-60. 2009
  3. doi Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment
    Emilio Di Maria
    Department of Health Sciences, University of Genova, Genova, Italy
    J Alzheimers Dis 29:699-705. 2012
  4. ncbi No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease
    Emilio Di Maria
    Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, and Medical Genetics Unit, San Martino Hospital, Genova, Italy
    Neurobiol Dis 24:274-9. 2006
  5. ncbi Gene symbol: VHL. Disease: von Hippel-Lindau syndrome
    E Di Maria
    Dept of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy
    Hum Genet 115:171. 2004
  6. doi The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment
    Emilio Di Maria
    Department of Neuroscience, University of Genova, Genova, Italy
    J Alzheimers Dis 19:909-14. 2010
  7. ncbi Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study
    Emilio Di Maria
    Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa, c o DIMI Viale Benedetto XV 6, 16132 Genoa, Italy
    Am J Med Genet B Neuropsychiatr Genet 128:27-9. 2004
  8. ncbi Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor
    Simona Pigullo
    Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy
    Parkinsonism Relat Disord 10:357-62. 2004
  9. ncbi Essential tremor is not associated with alpha-synuclein gene haplotypes
    Simona Pigullo
    Department of Neurosciences, Ophthalmology and Genetics Section of Medical Genetics, University of Genova, Genova, Italy
    Mov Disord 18:823-6. 2003
  10. ncbi Does parkin play a role in the peripheral nervous system? A family report
    Giovanni Abbruzzese
    Department of Neuroscience, Ophthalmology and Genetics, Section of Neurology, University of Genova, Italy
    Mov Disord 19:978-81. 2004

Collaborators

Detail Information

Publications18

  1. pmc Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia
    Paola Ciotti
    Department of Neuroscience, Ophthalmology, and Genetics, Section of Medical Genetics, University of Genova, c o DIMI Viale Benedetto XV, 6 16132 Genova, Italy
    J Mol Diagn 6:285-9. 2004
    ..TP PCR represents an additional valuable tool for mutation detection in FRDA patients and carriers, but also can be used as screening test in a diagnostic laboratory...
  2. doi Genetic variation in the G720/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease
    Emilio Di Maria
    Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy
    J Alzheimers Dis 18:953-60. 2009
    ..If the results from the present study will be replicated, the glutamate hypothesis could be invoked to explain the occurrence of psychosis in neurodegenerative disorders...
  3. doi Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment
    Emilio Di Maria
    Department of Health Sciences, University of Genova, Genova, Italy
    J Alzheimers Dis 29:699-705. 2012
    ..47, 95% CI 1.03-2.08). These findings further suggest that proNGF may play a role in Alzheimer-type neurodegeneration and that genetic variations in the NGF locus may influence the occurrence of sporadic, late-onset Alzheimer's disease...
  4. ncbi No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease
    Emilio Di Maria
    Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, and Medical Genetics Unit, San Martino Hospital, Genova, Italy
    Neurobiol Dis 24:274-9. 2006
    ..Additional studies are warranted to further investigate BDNF as genetic modifier of the HD phenotype...
  5. ncbi Gene symbol: VHL. Disease: von Hippel-Lindau syndrome
    E Di Maria
    Dept of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy
    Hum Genet 115:171. 2004
  6. doi The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment
    Emilio Di Maria
    Department of Neuroscience, University of Genova, Genova, Italy
    J Alzheimers Dis 19:909-14. 2010
    ..They may help elucidating the genetic risk to cognitive decline and designing effective clinical trials...
  7. ncbi Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study
    Emilio Di Maria
    Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa, c o DIMI Viale Benedetto XV 6, 16132 Genoa, Italy
    Am J Med Genet B Neuropsychiatr Genet 128:27-9. 2004
    ..04). These results suggest that GRIN2B variations might be linked with susceptibility to schizophrenia. Replication studies on larger samples are warranted to further test this hypothesis...
  8. ncbi Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor
    Simona Pigullo
    Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy
    Parkinsonism Relat Disord 10:357-62. 2004
    ..To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET)...
  9. ncbi Essential tremor is not associated with alpha-synuclein gene haplotypes
    Simona Pigullo
    Department of Neurosciences, Ophthalmology and Genetics Section of Medical Genetics, University of Genova, Genova, Italy
    Mov Disord 18:823-6. 2003
    ..Our results did not confirm the association reported previously and failed to identify a alpha-synuclein specific haplotype as susceptibility factor for essential tremor...
  10. ncbi Does parkin play a role in the peripheral nervous system? A family report
    Giovanni Abbruzzese
    Department of Neuroscience, Ophthalmology and Genetics, Section of Neurology, University of Genova, Italy
    Mov Disord 19:978-81. 2004
    ..RT-PCR experiments revealed that the parkin gene is expressed in sural nerves from both controls and patient with parkin-related disease. Our findings support the view that parkin may play a role in the peripheral nervous system...
  11. pmc A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype
    Massimiliano Cecconi
    Laboratory of Genetics, Galliera Hospital, Genova, Italy
    J Mol Diagn 10:272-5. 2008
    ....
  12. ncbi A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci
    Emilia Bellone
    Department of Oncology, Biology and Genetics, University of Genoa, Viale Benedetto XV, 6 16132 Genoa, Italy
    Neuromuscul Disord 12:286-91. 2002
    ....
  13. doi The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment
    Alessandro Cocchella
    Division of Medical Genetics, Galliera Hospital, Genova, Italy
    Am J Med Genet B Neuropsychiatr Genet 153:1342-6. 2010
    ..2q32.3 deletion...
  14. doi Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?
    Elisa Cinotti
    Section of Dermatology, Department of Health Sciences, University of Genoa, and Unit of Radiology, Galliera Hospital, Genoa, Italy
    Am J Med Genet A 161:1214-20. 2013
    ..We discuss the resemblances and differences with polyfibromatosis and descriptions of other, similar patients. We conclude that at present it remains uncertain whether the patient has a variant of polyfibromatosis or a separate entity...
  15. ncbi A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study
    Rossella Gulli
    Psychiatr Genet 17:355-6. 2007
  16. ncbi Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease
    Antonio Granata
    Department of Nephrology and Dialysis, Garibaldi S Luigi Ascoli Tomaselli Hospital, Catania, Italy
    J Nephrol 17:306-10. 2004
    ....
  17. ncbi Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene
    Ming Jen Lee
    Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Hum Mol Genet 12:1917-25. 2003
    ..This is the first report of a mutation in a molecular chaperonin causing a hereditary neuropathy and raises the possibility that mis-folding proteins may be a cause of this group of neuropathies...
  18. ncbi Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies
    Koen Venken
    Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerpen, Belgium
    Neurogenetics 4:37-41. 2002
    ..Therefore, our analysis indicates that mutations in the human NABI and NAB2 genes are most likely not involved in the pathogenesis of peripheral neuropathies...