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Objects: 566 FreeObjects: 1 IncrementalUpdates: 1 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Outlines: Item: Title: The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of’biochemical dysfun挀琀椀漀温㸾൥湤潢樍㔴㘠〠潢樍㰼⽃嬰⸰‰⸰‰⸰崯䍯畮琠〯䑥獴⣾＀䄀ㄩ⽆‰⽎數琠㔵㔠〠刯偡牥湴‵㐵‰⁒⽔楴汥⣾＀䤀一吀刀伀䐀唀䌀吀䤀伀丩㸾൥湤潢樍㔴㜠〠潢樍㰼⽃嬰⸰‰⸰‰⸰崯䍯畮琠〯䑥獴⣾＀䄀㘩⽆‰⽐慲敮琠㔴㔠〠刯偲敶‵㐸‰⁒⽔楴汥⣾＀刀攀昀攀爀攀渀挀攀猩㸾൥湤潢樍㔴㠠〠潢樍㰼⽃嬰⸰‰⸰‰⸰崯䍯畮琠〯䑥獴⣾＀䴀㈩⽆‰⽎數琠㔴㜠〠刯偡牥湴‵㐵‰⁒⽐牥瘠㔴㤠〠刯呩瑬攨DISCLOSURE Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6121c9d6 Children: Item: Title: INTRODUCTION Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@87f383f Item: Title: MATERIALS AND METHODS Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4eb7f003 Children: Item: Title: Ethics statement Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@eafc191 Item: Title: Generation of PPP2R1A mutants Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612fc6eb Item: Title: Cellular PP2A binding assays Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1060b431 Item: Title: PP2A activity assays Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612679d6 Item: Title: Functional studies with p.Ser152Phe variant Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@11758f2a Item: Title: Statistics Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@e720b71 Item: Title: RESULTS Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1b26f7b2 Children: Item: Title: Mutational spectrum is diverse and suggests impaired PPP2R1A subunit functioning Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@491cc5c9 Item: Title: Clinical spectrum associated with PPP2R1A variants Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@74ad1f1f Item: Title: PPP2R1A variants show altered PP2A B-type subunit binding in a variant-specific manner Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6a1aab78 Item: Title: Some PPP2R1A variants show altered C subunit binding and impaired overall PP2A activity Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@462d5aee Item: Title: Decreased number of dendritic spines in hippocampal neurons expressing p.Ser152Phe Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@69b0fd6f Item: Title: DISCUSSION Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@757942a1 Item: Title: Supplementary information Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4a87761d Item: Title: ACKNOWLEDGMENTS Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@66d1af89 Item: Title: DISCLOSURE Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@8646db9 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@37374a5e Info: Title: The broad phenotypic spectrum of PPP2R1A-related 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Font: BaseFont: JNPILN+AdvOT3b30f6db.B FontSubset: true FirstChar: 48 LastChar: 57 FontDescriptor: FontName: JNPILN+AdvOT3b30f6db.B Flags: Nonsymbolic FontBBox: -31, -250, 875, 895 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: JOBBPP+AdvTTab7e17fd FontSubset: true FirstChar: 43 LastChar: 61 FontDescriptor: FontName: JOBBPP+AdvTTab7e17fd Flags: Nonsymbolic FontBBox: -156, -250, 1072, 947 FontFile3: true Encoding: WinAnsiEncoding XMP: application/pdf doi:10.1038/s41436-020-00981-2 The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Lisa Lenaerts Sara Reynhout Iris Verbinnen Frédéric Laumonnier Annick Toutain Frédérique Bonnet-Brilhault Yana Hoorne Shelagh Joss Anna K. Chassevent Constance Smith-Hicks Bart Loeys Pascal Joset Katharina Steindl Anita Rauch Sarju G. Mehta Wendy K. Chung Koenraad Devriendt Susan E. Holder Tamison Jewett Lauren M. Baldwin William G. Wilson Shelley Towner Siddharth Srivastava Hannah F. Johnson Cornelia Daumer-Haas Martina Baethmann Anna Ruiz Elisabeth Gabau Vani Jain Vinod Varghese Ali Al-Beshri Stephen Fulton Oded Wechsberg Naama Orenstein Katrina Prescott Anne-Marie Childs Laurence Faivre Sébastien Moutton Jennifer A. Sullivan Vandana Shashi Suzanne M. Koudijs Malou Heijligers Emma Kivuva Amy McTague Alison Male Yvette van Ierland Barbara Plecko Isabelle Maystadt Rizwan Hamid Vickie L. Hannig Gunnar Houge Veerle Janssens Springer US PPP2R1A PP2A intellectual disability neurodevelopmental disorder epilepsy GENETICS in MEDICINE, doi:10.1038/s41436-020-00981-2 10.1038/s41436-020-00981-2 http://dx.doi.org/10.1038/s41436-020-00981-2 journal GENETICS in MEDICINE © 2020, The Author(s) 1530-0366 10.1038/s41436-020-00981-2 springer.com springerlink.com 2010-04-23 True 10.1038/s41436-020-00981-2 springer.com springerlink.com Springer 2021-01-27T15:58:37+05:30 2021-01-27T15:57:55+05:30 2021-01-27T15:58:37+05:30 True PPP2R1A; PP2A; intellectual disability; neurodevelopmental disorder; epilepsy VoR uuid:a31650f3-e86c-4c1b-99a1-7a7efd108510 uuid:89b1815e-3d49-40d6-88a2-0463ee4acdfd default 1 converted uuid:8df75a40-787a-406b-96d4-59fbd49335d8 converted to PDF/A-2b pdfToolbox 2021-01-27T15:58:37+05:30 2 B Veerle Janssens http://orcid.org/0000-0002-6772-8448 http://ns.adobe.com/pdf/1.3/ pdf Adobe PDF Schema internal A name object indicating whether the document has been modified to include trapping information Trapped Text http://ns.adobe.com/pdfx/1.3/ pdfx pdfx internal ID of PDF/X standard GTS_PDFXVersion Text internal Conformance level of PDF/X standard GTS_PDFXConformance Text internal Company creating the PDF Company Text internal Date when document was last modified SourceModified Text external Mirrors crossmark:CrosMarkDomains CrossMarkDomains Seq Text internal Mirrors crossmark:DOI doi Text http://ns.adobe.com/xap/1.0/mm/ xmpMM XMP Media Management Schema internal UUID based identifier for specific incarnation of a document InstanceID URI internal The common identifier for all versions and renditions of a document. 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In lieu of using #other please reach out to the PRISM group at info@prismstandard.org to request addition of your term to the Aggregation Type Controlled Vocabulary. aggregationType Text external Copyright copyright Text external The Digital Object Identifier for the article. The DOI may also be used as the dc:identifier. If used as a dc:identifier, the URI form should be captured, and the bare identifier should also be captured using prism:doi. If an alternate unique identifier is used as the required dc:identifier, then the DOI should be specified as a bare identifier within prism:doi only. If the URL associated with a DOI is to be specified, then prism:url may be used in conjunction with prism:doi in order to provide the service endpoint (i.e. the URL). doi Text external ISSN for an electronic version of the issue in which the resource occurs. 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