Genomes and Genes
Emilio Di Maria
Affiliation: University of Genoa
- Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxiaPaola 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...
- Genetic variation in the G720/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's diseaseEmilio 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...
- Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairmentEmilio 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...
- No evidence of association between BDNF gene variants and age-at-onset of Huntington's diseaseEmilio 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...
- Gene symbol: VHL. Disease: von Hippel-Lindau syndromeE Di Maria
Dept of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy
Hum Genet 115:171. 2004
- The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairmentEmilio 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...
- Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control studyEmilio 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...
- Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremorSimona 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)...
- Essential tremor is not associated with alpha-synuclein gene haplotypesSimona 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...
- Does parkin play a role in the peripheral nervous system? A family reportGiovanni 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...
- A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotypeMassimiliano Cecconi
Laboratory of Genetics, Galliera Hospital, Genova, Italy
J Mol Diagn 10:272-5. 2008....
- 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) lociEmilia Bellone
Department of Oncology, Biology and Genetics, University of Genoa, Viale Benedetto XV, 6 16132 Genoa, Italy
Neuromuscul Disord 12:286-91. 2002....
- The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairmentAlessandro Cocchella
Division of Medical Genetics, Galliera Hospital, Genova, Italy
Am J Med Genet B Neuropsychiatr Genet 153:1342-6. 2010..2q32.3 deletion...
- 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...
- A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control studyRossella Gulli
Psychiatr Genet 17:355-6. 2007
- Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau diseaseAntonio Granata
Department of Nephrology and Dialysis, Garibaldi S Luigi Ascoli Tomaselli Hospital, Catania, Italy
J Nephrol 17:306-10. 2004....
- Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing 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...
- Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathiesKoen 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...