Italian Huntington disease patients--data and tissue bank.
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| Title: | Italian Huntington disease patients--data and tissue bank. |
|---|---|
| Authors: | Squitieri, F., Cannella, M., Gaudio, L., Martino, T., Maglione, V., Giallonardo, P., Simonelli, M., Simonelli, G., Mangeruga, D., Ciarmiello, A., Pierelli, F. |
| Source: | Neurological Sciences. Oct2003, Vol. 24 Issue 3, p215-216. 2p. |
| Subjects: | Huntington disease, Tissue banks, Tissues, Health facilities, Neurogenetics, Cell culture, Cell lines, Medical records, Bioethics, Age factors in disease, Comparative studies, DNA, Family health, Magnetic resonance imaging, Research methodology, Medical cooperation, Genetic mutation, Research, Research funding, Positron emission tomography, Evaluation research, Sequence analysis |
| Geographic Terms: | Italy |
| Abstract: | We have collected clinical and genetic data on Huntington disease (HD) patients and their families over the last 5 years at the Unit of Neurogenetics, IRCCS Neuromed of Pozzilli (IS), Italy. Data on 854 mutation carriers are included in the data bank, together with a large number of DNA samples, blood, and other tissues. In particular, lymphoblastoid cell lines from 100 patients, including subjects carrying very rare genetic conditions (CAG mutation homozygosity, juvenile and infantile onset, pre-mutations) have been established. For all these initiatives ethical approval from the bioethics committee was obtained. We wish to extend this initiative to all families, investigators, and institutions within and, possibly outside, the Italian border in an attempt to enlarge the bank and to institute a HD Research Roster. [ABSTRACT FROM AUTHOR] |
| Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 16647465 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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Oct2003, Vol. 24 Issue 3, p215-216. 2p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Huntington+disease%22">Huntington disease</searchLink><br /><searchLink fieldCode="DE" term="%22Tissue+banks%22">Tissue banks</searchLink><br /><searchLink fieldCode="DE" term="%22Tissues%22">Tissues</searchLink><br /><searchLink fieldCode="DE" term="%22Health+facilities%22">Health facilities</searchLink><br /><searchLink fieldCode="DE" term="%22Neurogenetics%22">Neurogenetics</searchLink><br /><searchLink fieldCode="DE" term="%22Cell+culture%22">Cell culture</searchLink><br /><searchLink fieldCode="DE" term="%22Cell+lines%22">Cell lines</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+records%22">Medical records</searchLink><br /><searchLink fieldCode="DE" term="%22Bioethics%22">Bioethics</searchLink><br /><searchLink fieldCode="DE" term="%22Age+factors+in+disease%22">Age factors in disease</searchLink><br /><searchLink fieldCode="DE" term="%22Comparative+studies%22">Comparative studies</searchLink><br /><searchLink fieldCode="DE" term="%22DNA%22">DNA</searchLink><br /><searchLink fieldCode="DE" term="%22Family+health%22">Family health</searchLink><br /><searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Research+methodology%22">Research methodology</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+cooperation%22">Medical cooperation</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Research%22">Research</searchLink><br /><searchLink fieldCode="DE" term="%22Research+funding%22">Research funding</searchLink><br /><searchLink fieldCode="DE" term="%22Positron+emission+tomography%22">Positron emission tomography</searchLink><br /><searchLink fieldCode="DE" term="%22Evaluation+research%22">Evaluation research</searchLink><br /><searchLink fieldCode="DE" term="%22Sequence+analysis%22">Sequence analysis</searchLink> – Name: SubjectGeographic Label: Geographic Terms Group: Su Data: <searchLink fieldCode="DE" term="%22Italy%22">Italy</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: We have collected clinical and genetic data on Huntington disease (HD) patients and their families over the last 5 years at the Unit of Neurogenetics, IRCCS Neuromed of Pozzilli (IS), Italy. Data on 854 mutation carriers are included in the data bank, together with a large number of DNA samples, blood, and other tissues. In particular, lymphoblastoid cell lines from 100 patients, including subjects carrying very rare genetic conditions (CAG mutation homozygosity, juvenile and infantile onset, pre-mutations) have been established. For all these initiatives ethical approval from the bioethics committee was obtained. We wish to extend this initiative to all families, investigators, and institutions within and, possibly outside, the Italian border in an attempt to enlarge the bank and to institute a HD Research Roster. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=16647465 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10072-003-0137-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 2 StartPage: 215 Subjects: – SubjectFull: Huntington disease Type: general – SubjectFull: Tissue banks Type: general – SubjectFull: Tissues Type: general – SubjectFull: Health facilities Type: general – SubjectFull: Neurogenetics Type: general – SubjectFull: Cell culture Type: general – SubjectFull: Cell lines Type: general – SubjectFull: Medical records Type: general – SubjectFull: Bioethics Type: general – SubjectFull: Age factors in disease Type: general – SubjectFull: Comparative studies Type: general – SubjectFull: DNA Type: general – SubjectFull: Family health Type: general – SubjectFull: Magnetic resonance imaging Type: general – SubjectFull: Research methodology Type: general – SubjectFull: Medical cooperation Type: general – SubjectFull: Genetic mutation Type: general – SubjectFull: Research Type: general – SubjectFull: Research funding Type: general – SubjectFull: Positron emission tomography Type: general – SubjectFull: Evaluation research Type: general – SubjectFull: Sequence analysis Type: general – SubjectFull: Italy Type: general Titles: – TitleFull: Italian Huntington disease patients--data and tissue bank. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Squitieri, F. – PersonEntity: Name: NameFull: Cannella, M. – PersonEntity: Name: NameFull: Gaudio, L. – PersonEntity: Name: NameFull: Martino, T. – PersonEntity: Name: NameFull: Maglione, V. – PersonEntity: Name: NameFull: Giallonardo, P. – PersonEntity: Name: NameFull: Simonelli, M. – PersonEntity: Name: NameFull: Simonelli, G. – PersonEntity: Name: NameFull: Mangeruga, D. – PersonEntity: Name: NameFull: Ciarmiello, A. – PersonEntity: Name: NameFull: Pierelli, F. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2003 Type: published Y: 2003 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 24 – Type: issue Value: 3 Titles: – TitleFull: Neurological Sciences Type: main |
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