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CEST Size: 7446941 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf Profile: Linearized PDF PDFMetadata: Objects: 925 FreeObjects: 1 IncrementalUpdates: 1 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Language: en Outlines: Item: Title: Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy Destination: titlink1 Children: Item: Title: Introduction Destination: flink1 Item: Title: Results Destination: flink2 Children: Item: Title: Cx32 expression following intrathecal AAV9-Mpz.GJB1 injection in CMT1X mutant mice Destination: slink1 Item: Title: Improvement of motor performance in pre-onset-treated R75W/Gjb1-null and N175D/Gjb1-null mice Destination: slink2 Item: Title: Improved nerve conduction velocities in pre-onset-treated R75W/Gjb1-null and N175D/Gjb1-null mice Destination: slink3 Item: Title: Neurofilament light concentrations in pre-onset-treated R75W/Gjb1-null and N175D/Gjb1-null mice Destination: slink4 Item: Title: Improved nerve pathology in pre-onset-treated R75W/Gjb1-null and N175D/Gjb1-null mice Destination: slink5 Item: Title: Improvement of functional performance in post-onset-treated R75W/Gjb1-null and N175D/Gjb1-null mice Destination: slink6 Item: Title: Improved nerve conduction velocities in post-onset-treated R75W/Gjb1-null and N175D/Gjb1-null mice Destination: slink7 Item: Title: Improved nerve pathology in post-onset-treated R75W/Gjb1-null and N175D/Gjb1-null mice Destination: slink8 Item: Title: Discussion Destination: flink3 Item: Title: Materials and methods Destination: flink4 Children: Item: Title: Cloning and production of AAV vectors Destination: slink9 Item: Title: Experimental animals Destination: slink10 Item: Title: Study design Destination: slink11 Item: Title: Intrathecal vector delivery Destination: slink12 Item: Title: Immunofluorescence staining Destination: slink13 Item: Title: Immunoblot analysis Destination: slink14 Item: Title: Behavioral analysis Destination: slink15 Children: Item: Title: Grip strength testing Destination: tlink1 Item: Title: Rotarod testing Destination: tlink2 Item: Title: Electrophysiological analysis Destination: slink16 Children: Item: Title: MNCV Destination: tlink3 Item: Title: NF-L plasma level evaluation Destination: slink17 Item: Title: Morphometric analysis of myelination in lumbar roots and peripheral nerves Destination: slink18 Item: Title: Statistical analysis Destination: slink19 Item: Title: Data and code availability Destination: flink5 Item: Title: Supplemental information Destination: falink6 Item: Title: Acknowledgments Destination: acklink1 Item: Title: Author contributions Destination: acklink2 Item: Title: Declaration of interests Destination: acklink3 Item: Title: References Destination: blink1 Info: Title: Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy 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JHJJEF+AdvPSA189 Flags: Nonsymbolic FontBBox: -156, -208, 1072, 802 FontFile3: true Encoding: MacRomanEncoding XMP: application/pdf doi:10.1016/j.omtm.2023.07.011 Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy Alexia Kagiava Christos Karaiskos George Lapathitis Amanda Heslegrave Irene Sargiannidou Henrik Zetterberg Assumpció Bosch Kleopas A. Kleopa X-linked Charcot-Marie-Tooth gene therapy AAV9 Golgi-retained mutations demyelination R75W N175D Connexin 32 Molecular Therapy: Methods & Clinical Development, 30 (2023) 377-393. doi:10.1016/j.omtm.2023.07.011 The Author(s) journal Molecular Therapy: Methods & Clinical Development © 2023 The Author(s). 2329-0501 30 14 September 2023 2023-09-14 377-393 377 393 10.1016/j.omtm.2023.07.011 https://doi.org/10.1016/j.omtm.2023.07.011 2010-04-23 true 10.1016/j.omtm.2023.07.011 elsevier.com sciencedirect.com VoR 7.0 10.1016/j.omtm.2023.07.011 noindex 2010-04-23 true sciencedirect.com elsevier.com Elsevier 2023-09-09T18:12:52+05:30 2023-09-09T18:14:59+05:30 2023-09-09T18:14:59+05:30 True Acrobat Distiller 8.1.0 (Windows) uuid:c8184cdd-a9c8-4b21-8708-a1a748649553 uuid:cc6e533a-2054-4dc9-b88e-9cc28fa86628 http://creativecommons.org/licenses/by-nc-nd/4.0/ Pages: Page: Label: 377 Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 116, 571, 120, 582 Destination: 748 Annotation: Subtype: 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