Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.
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| Title: | Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA. |
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| Authors: | Peruzzo P; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, P. Le Santa Maria Della Misericordi 15, 33100, Udine, Italy., Bergamin N; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, P. Le Santa Maria Della Misericordi 15, 33100, Udine, Italy., Bon M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, P. Le Santa Maria Della Misericordi 15, 33100, Udine, Italy., Cappelli S; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy., Longo A; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy., Goina E; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy., Stuani C; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy., Buratti E; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy., Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, P. Le Santa Maria Della Misericordi 15, 33100, Udine, Italy. andrea.dardis@asufc.sanita.fvg.it. |
| Source: | Molecular medicine (Cambridge, Mass.) [Mol Med] 2025 Feb 04; Vol. 31 (1), pp. 45. Date of Electronic Publication: 2025 Feb 04. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39905333 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Peruzzo+P%22">Peruzzo P</searchLink>; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, P. Le Santa Maria Della Misericordi 15, 33100, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Bergamin+N%22">Bergamin N</searchLink>; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, P. Le Santa Maria Della Misericordi 15, 33100, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Bon+M%22">Bon M</searchLink>; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, P. Le Santa Maria Della Misericordi 15, 33100, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Cappelli+S%22">Cappelli S</searchLink>; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Longo+A%22">Longo A</searchLink>; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Goina+E%22">Goina E</searchLink>; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Stuani+C%22">Stuani C</searchLink>; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Buratti+E%22">Buratti E</searchLink>; International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Dardis+A%22">Dardis A</searchLink>; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, P. Le Santa Maria Della Misericordi 15, 33100, Udine, Italy. andrea.dardis@asufc.sanita.fvg.it. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229501023%22">Molecular medicine (Cambridge, Mass.)</searchLink> [Mol Med] 2025 Feb 04; Vol. 31 (1), pp. 45. <i>Date of Electronic Publication: </i>2025 Feb 04. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9501023 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1528-3658 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210761551%22">10761551 </searchLink><i>NLM ISO Abbreviation: </i>Mol Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39905333 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s10020-025-01090-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 45 Titles: – TitleFull: Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Peruzzo P – PersonEntity: Name: NameFull: Bergamin N – PersonEntity: Name: NameFull: Bon M – PersonEntity: Name: NameFull: Cappelli S – PersonEntity: Name: NameFull: Longo A – PersonEntity: Name: NameFull: Goina E – PersonEntity: Name: NameFull: Stuani C – PersonEntity: Name: NameFull: Buratti E – PersonEntity: Name: NameFull: Dardis A IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 02 Text: 2025 Feb 04 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1528-3658 Numbering: – Type: volume Value: 31 – Type: issue Value: 1 Titles: – TitleFull: Molecular medicine (Cambridge, Mass.) Type: main |
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