NOTCH3 Variant Position Affects the Phenotype at the Pluripotent Stem Cell Level in CADASIL.
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| Title: | NOTCH3 Variant Position Affects the Phenotype at the Pluripotent Stem Cell Level in CADASIL. |
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| Authors: | Bugallo-Casal A; Translational Stroke Laboratory Group (TREAT), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain.; University of Santiago de Compostela (USC), 15705, Santiago de Compostela, Spain., Muiño E; Stroke Pharmacogenomics and Genetics, Sant Pau Institute of Research (IR Sant Pau), 08041, Barcelona, Spain.; Epilepsy Unit, Hospital de la Santa Creu i Sant Pau, 08025, Barcelona, Spain., Bravo SB; Proteomic Unit, Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain., Hervella P; Neuroimaging and Biotechnology Laboratory Group (NOBEL), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain., Arias-Rivas S; Stroke Unit, Department of Neurology, Hospital Clínico Universitario, 15706, Santiago de Compostela, Spain., Rodríguez-Yáñez M; Stroke Unit, Department of Neurology, Hospital Clínico Universitario, 15706, Santiago de Compostela, Spain., Vara-León E; Galician Public Foundation of Genomic Medicine, Genomics Medicine Group, 15706, Santiago de Compostela, Spain., Quintas-Rey R; Galician Public Foundation of Genomic Medicine, Genomics Medicine Group, Genetic Group, Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain., Pérez-Gayol L; Translational Stroke Laboratory Group (TREAT), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain., Maisterra-Santos O; Unidad de Memoria y Demencias, Hospital Universitario Vall d'Hebron/Vall d'Hebron Institut de Reçerca, 08035, Barcelona, Spain., Pizarro-Gonzálvez J; Unidad de Memoria y Demencias, Hospital Universitario Vall d'Hebron/Vall d'Hebron Institut de Reçerca, 08035, Barcelona, Spain., Martorell-Riera MR; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitari Son Espases, 07120, Palma, Spain., Vives-Bauzá C; Research Unit, Hospital Universitari Son Espases, IdISBa, Department of Biology, University of Balearic Islands (UIB), IUNICS, 07120, Palma, Spain., Fernández-Cadenas I; Stroke Pharmacogenomics and Genetics, Sant Pau Institute of Research (IR Sant Pau), 08041, Barcelona, Spain., Castillo J; Neuroimaging and Biotechnology Laboratory Group (NOBEL), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain., Campos F; Translational Stroke Laboratory Group (TREAT), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain. francisco.campos.perez@sergas.es. |
| Source: | Neuromolecular medicine [Neuromolecular Med] 2025 Feb 27; Vol. 27 (1), pp. 18. Date of Electronic Publication: 2025 Feb 27. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Humana Press Country of Publication: United States NLM ID: 101135365 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1174 (Electronic) Linking ISSN: 15351084 NLM ISO Abbreviation: Neuromolecular Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40016442 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: NOTCH3 Variant Position Affects the Phenotype at the Pluripotent Stem Cell Level in CADASIL. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bugallo-Casal+A%22">Bugallo-Casal A</searchLink>; Translational Stroke Laboratory Group (TREAT), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain.; University of Santiago de Compostela (USC), 15705, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Muiño+E%22">Muiño E</searchLink>; Stroke Pharmacogenomics and Genetics, Sant Pau Institute of Research (IR Sant Pau), 08041, Barcelona, Spain.; Epilepsy Unit, Hospital de la Santa Creu i Sant Pau, 08025, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Bravo+SB%22">Bravo SB</searchLink>; Proteomic Unit, Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Hervella+P%22">Hervella P</searchLink>; Neuroimaging and Biotechnology Laboratory Group (NOBEL), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Arias-Rivas+S%22">Arias-Rivas S</searchLink>; Stroke Unit, Department of Neurology, Hospital Clínico Universitario, 15706, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Rodríguez-Yáñez+M%22">Rodríguez-Yáñez M</searchLink>; Stroke Unit, Department of Neurology, Hospital Clínico Universitario, 15706, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Vara-León+E%22">Vara-León E</searchLink>; Galician Public Foundation of Genomic Medicine, Genomics Medicine Group, 15706, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Quintas-Rey+R%22">Quintas-Rey R</searchLink>; Galician Public Foundation of Genomic Medicine, Genomics Medicine Group, Genetic Group, Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Pérez-Gayol+L%22">Pérez-Gayol L</searchLink>; Translational Stroke Laboratory Group (TREAT), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Maisterra-Santos+O%22">Maisterra-Santos O</searchLink>; Unidad de Memoria y Demencias, Hospital Universitario Vall d'Hebron/Vall d'Hebron Institut de Reçerca, 08035, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Pizarro-Gonzálvez+J%22">Pizarro-Gonzálvez J</searchLink>; Unidad de Memoria y Demencias, Hospital Universitario Vall d'Hebron/Vall d'Hebron Institut de Reçerca, 08035, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Martorell-Riera+MR%22">Martorell-Riera MR</searchLink>; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitari Son Espases, 07120, Palma, Spain.<br /><searchLink fieldCode="AU" term="%22Vives-Bauzá+C%22">Vives-Bauzá C</searchLink>; Research Unit, Hospital Universitari Son Espases, IdISBa, Department of Biology, University of Balearic Islands (UIB), IUNICS, 07120, Palma, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Cadenas+I%22">Fernández-Cadenas I</searchLink>; Stroke Pharmacogenomics and Genetics, Sant Pau Institute of Research (IR Sant Pau), 08041, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Castillo+J%22">Castillo J</searchLink>; Neuroimaging and Biotechnology Laboratory Group (NOBEL), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Campos+F%22">Campos F</searchLink>; Translational Stroke Laboratory Group (TREAT), Clinical Neurosciences Research Laboratory (LINC), Health Research Institute of Santiago de Compostela (IDIS), 15706, Santiago de Compostela, Spain. francisco.campos.perez@sergas.es. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101135365%22">Neuromolecular medicine</searchLink> [Neuromolecular Med] 2025 Feb 27; Vol. 27 (1), pp. 18. <i>Date of Electronic Publication: </i>2025 Feb 27. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Humana+Press%22">Humana Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101135365 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1559-1174 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215351084%22">15351084 </searchLink><i>NLM ISO Abbreviation: </i>Neuromolecular Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40016442 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s12017-025-08840-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 18 Titles: – TitleFull: NOTCH3 Variant Position Affects the Phenotype at the Pluripotent Stem Cell Level in CADASIL. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bugallo-Casal A – PersonEntity: Name: NameFull: Muiño E – PersonEntity: Name: NameFull: Bravo SB – PersonEntity: Name: NameFull: Hervella P – PersonEntity: Name: NameFull: Arias-Rivas S – PersonEntity: Name: NameFull: Rodríguez-Yáñez M – PersonEntity: Name: NameFull: Vara-León E – PersonEntity: Name: NameFull: Quintas-Rey R – PersonEntity: Name: NameFull: Pérez-Gayol L – PersonEntity: Name: NameFull: Maisterra-Santos O – PersonEntity: Name: NameFull: Pizarro-Gonzálvez J – PersonEntity: Name: NameFull: Martorell-Riera MR – PersonEntity: Name: NameFull: Vives-Bauzá C – PersonEntity: Name: NameFull: Fernández-Cadenas I – PersonEntity: Name: NameFull: Castillo J – PersonEntity: Name: NameFull: Campos F IsPartOfRelationships: – BibEntity: Dates: – D: 27 M: 02 Text: 2025 Feb 27 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1559-1174 Numbering: – Type: volume Value: 27 – Type: issue Value: 1 Titles: – TitleFull: Neuromolecular medicine Type: main |
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