79143d5c74d5c0c6c0a13b5300a5b9de pmc_9853890.pdf 20e6679778da857a8ebdd6bd3f9448dd19e48548 pmc_9853890.pdf fdc50b0e982d0b0bc0c819c97f1842ac0755b3a0b6cd68171c23ca980fa830fb pmc_9853890.pdf Title: Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome Subject: Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs). Keywords: FXTAS, AQP4, FMR1 premutation, genetic variation, glymphatic system Author: Andrea Elias-Mas Creator: LaTeX with hyperref package Producer: pdfTeX-1.40.16 CreationDate: Wed Jan 4 06:55:16 2023 CET ModDate: Wed Jan 4 07:49:12 2023 CET Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 7 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 320421 bytes Optimized: no PDF version: 1.5 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- ECLDOX+MinionPro-Regular Type 1 Custom yes yes no 27 0 VIUKEK+MuseoSans-700 Type 1 Custom yes yes no 28 0 CAVKXX+MuseoSans-300 Type 1 Custom yes yes no 29 0 XIZUJH+HelveticaNeueLTStd-Lt Type 1 Custom yes yes no 34 0 SJEQLY+MuseoSans-300Italic Type 1 Custom yes yes no 35 0 XGYLHJ+MuseoSans-500 Type 1 Custom yes yes no 36 0 TEBFYT+MuseoSans-700Italic Type 1 Custom yes yes no 97 0 NSSTJH+MinionPro-It Type 1 Custom yes yes no 101 0 XAYTEH+MTGU Type 1 Builtin yes yes no 102 0 FHEIOE+MinionPro-Bold Type 1 Custom yes yes no 110 0 HGHVPI+MuseoSans-500Italic Type 1 Custom yes yes no 154 0 QYDHCM+MTSYN Type 1 Builtin yes yes no 155 0 XODHDR+RBLMI Type 1 Builtin yes yes no 162 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2023-05-20 02:29:32 CEST RepresentationInformation: pmc_9853890.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2023-02-09 02:18:54 CET Size: 320421 Format: PDF Version: 1.5 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 451 FreeObjects: 3 IncrementalUpdates: 1 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Outlines: Item: Title: Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome Children: Item: Title: Introduction Item: Title: Materials and methods Children: Item: Title: Study population Item: Title: SNPs of the AQP4 gene and haplotype analysis Item: Title: Genotyping of AQP4 SNPs Item: Title: Statistical analysis Item: Title: Results Item: Title: Discussion Item: Title: Data availability statement Item: Title: Ethics statement Item: Title: Author contributions Item: Title: Funding Item: Title: Conflict of interest Item: Title: Publisher's note Item: Title: References Info: Title: Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome Author: Andrea Elias-Mas Subject: Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55 200 CGGs). Keywords: FXTAS, AQP4, FMR1 premutation, genetic variation, glymphatic system Creator: LaTeX with hyperref package Producer: pdfTeX-1.40.16 CreationDate: Wed Jan 04 07:25:16 CET 2023 ModDate: Wed Jan 04 08:19:12 CET 2023 ID: 0x086c5b8c551e38450715adffb8250e82, 0xd52de2e28fe94c49a5ff4d91685b79a9 Filters: FilterPipeline: FlateDecode Fonts: Type1: Font: BaseFont: TEBFYT+MuseoSans-700Italic FontSubset: true FirstChar: 49 LastChar: 82 FontDescriptor: FontName: TEBFYT+MuseoSans-700Italic Flags: Symbolic FontBBox: -254, -210, 1112, 902 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: XIZUJH+HelveticaNeueLTStd-Lt FontSubset: true FirstChar: 134 LastChar: 134 FontDescriptor: FontName: XIZUJH+HelveticaNeueLTStd-Lt Flags: Symbolic FontBBox: -166, -214, 1050, 967 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: XODHDR+RBLMI FontSubset: true FirstChar: 60 LastChar: 62 FontDescriptor: FontName: XODHDR+RBLMI Flags: Symbolic FontBBox: -11, -230, 987, 750 FontFile: true Font: BaseFont: SJEQLY+MuseoSans-300Italic FontSubset: true FirstChar: 46 LastChar: 117 FontDescriptor: FontName: SJEQLY+MuseoSans-300Italic Flags: Symbolic FontBBox: -245, -210, 1030, 883 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: XGYLHJ+MuseoSans-500 FontSubset: true FirstChar: 3 LastChar: 134 FontDescriptor: FontName: XGYLHJ+MuseoSans-500 Flags: Symbolic FontBBox: -121, -210, 1088, 892 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: NSSTJH+MinionPro-It FontSubset: true FirstChar: 40 LastChar: 122 FontDescriptor: FontName: NSSTJH+MinionPro-It Flags: Symbolic FontBBox: -201, -360, 1684, 919 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: XAYTEH+MTGU FontSubset: true FirstChar: 36 LastChar: 98 FontDescriptor: FontName: XAYTEH+MTGU Flags: Symbolic FontBBox: 25, -213, 839, 683 FontFile: true Font: BaseFont: FHEIOE+MinionPro-Bold FontSubset: true FirstChar: 49 LastChar: 108 FontDescriptor: FontName: FHEIOE+MinionPro-Bold Flags: Symbolic FontBBox: -318, -360, 1684, 917 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: HGHVPI+MuseoSans-500Italic FontSubset: true FirstChar: 52 LastChar: 110 FontDescriptor: FontName: HGHVPI+MuseoSans-500Italic Flags: Symbolic FontBBox: -249, -210, 1047, 892 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: ECLDOX+MinionPro-Regular FontSubset: true FirstChar: 2 LastChar: 241 FontDescriptor: FontName: ECLDOX+MinionPro-Regular Flags: Symbolic FontBBox: -289, -360, 1684, 917 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: QYDHCM+MTSYN FontSubset: true FirstChar: 6 LastChar: 48 FontDescriptor: FontName: QYDHCM+MTSYN Flags: Symbolic FontBBox: 0, -954, 1043, 900 FontFile: true Font: BaseFont: VIUKEK+MuseoSans-700 FontSubset: true FirstChar: 40 LastChar: 121 FontDescriptor: FontName: VIUKEK+MuseoSans-700 Flags: Symbolic FontBBox: -125, -210, 1126, 902 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: CAVKXX+MuseoSans-300 FontSubset: true FirstChar: 2 LastChar: 250 FontDescriptor: FontName: CAVKXX+MuseoSans-300 Flags: Symbolic FontBBox: -118, -210, 1088, 883 FontFile: true EncodingDictionary: Differences: true XMP: FXTAS, AQP4, FMR1 premutation, genetic variation, glymphatic system pdfTeX-1.40.16 1.5 application/pdf fnagi-14-1073258.tex Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs). Andrea Elias-Mas Miriam Potrony Jaume Bague David J. Cutler Maria Isabel Alvarez-Mora Teresa Torres Tamara Barcos Joan Anton Puig-Butille Marta Rubio Irene Madrigal Susana Puig Emily G. 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