SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts.
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| Title: | SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts. |
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| Authors: | Cook SL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Stout C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Kirkeby L; Center for Regenerative Medicine, Mayo Clinic, Rochester, MN, United States., Vidal-Folch N; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Selcen D; Department of Neurology, Mayo Clinic, Rochester, MN, United States., Milone M; Department of Neurology, Mayo Clinic, Rochester, MN, United States., Anderson D; Department of Neurology, Mayo Clinic Health System, La Crosse, WI, United States., Staff NP; Department of Neurology, Mayo Clinic, Rochester, MN, United States. |
| Source: | Frontiers in genetics [Front Genet] 2024 Jul 30; Vol. 15, pp. 1406819. Date of Electronic Publication: 2024 Jul 30 (Print Publication: 2024). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39139818 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Cook+SL%22">Cook SL</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.<br /><searchLink fieldCode="AU" term="%22Stout+C%22">Stout C</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.<br /><searchLink fieldCode="AU" term="%22Kirkeby+L%22">Kirkeby L</searchLink>; Center for Regenerative Medicine, Mayo Clinic, Rochester, MN, United States.<br /><searchLink fieldCode="AU" term="%22Vidal-Folch+N%22">Vidal-Folch N</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.<br /><searchLink fieldCode="AU" term="%22Oglesbee+D%22">Oglesbee D</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.<br /><searchLink fieldCode="AU" term="%22Hasadsri+L%22">Hasadsri L</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.<br /><searchLink fieldCode="AU" term="%22Selcen+D%22">Selcen D</searchLink>; Department of Neurology, Mayo Clinic, Rochester, MN, United States.<br /><searchLink fieldCode="AU" term="%22Milone+M%22">Milone M</searchLink>; Department of Neurology, Mayo Clinic, Rochester, MN, United States.<br /><searchLink fieldCode="AU" term="%22Anderson+D%22">Anderson D</searchLink>; Department of Neurology, Mayo Clinic Health System, La Crosse, WI, United States.<br /><searchLink fieldCode="AU" term="%22Staff+NP%22">Staff NP</searchLink>; Department of Neurology, Mayo Clinic, Rochester, MN, United States. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2024 Jul 30; Vol. 15, pp. 1406819. <i>Date of Electronic Publication: </i>2024 Jul 30 (<i>Print Publication: </i>2024). – 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="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39139818 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fgene.2024.1406819 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1406819 Titles: – TitleFull: SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cook SL – PersonEntity: Name: NameFull: Stout C – PersonEntity: Name: NameFull: Kirkeby L – PersonEntity: Name: NameFull: Vidal-Folch N – PersonEntity: Name: NameFull: Oglesbee D – PersonEntity: Name: NameFull: Hasadsri L – PersonEntity: Name: NameFull: Selcen D – PersonEntity: Name: NameFull: Milone M – PersonEntity: Name: NameFull: Anderson D – PersonEntity: Name: NameFull: Staff NP IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 07 Text: 2024 Jul 30 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 1664-8021 Numbering: – Type: volume Value: 15 Titles: – TitleFull: Frontiers in genetics Type: main |
| ResultId | 1 |
