Publication:
Non-GAA repeat expansions in FGF14 are likely not pathogenic—reply to: “shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a chilean family”

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dc.contributor.coauthorPellerin, David
dc.contributor.coauthorIruzubieta, Pablo
dc.contributor.coauthorDanzi, Matt C.
dc.contributor.coauthorAshton, Catherine
dc.contributor.coauthorDicaire, Marie-Josée
dc.contributor.coauthorWandzel, Marion
dc.contributor.coauthorRoth, Virginie
dc.contributor.coauthorLamont, Phillipa J.
dc.contributor.coauthorBonnet, Céline
dc.contributor.coauthorRenaud, Mathilde
dc.contributor.coauthorSynofzik, Matthis
dc.contributor.coauthorZuchner, Stephan
dc.contributor.coauthorBrais, Bernard
dc.contributor.coauthorBaşak, Nazlı A.
dc.contributor.coauthorHoulden, Henry
dc.contributor.kuauthorTekgül, Şeyma
dc.contributor.schoolcollegeinstituteGraduate School of Sciences and Engineering
dc.contributor.unitAnimal Laboratory
dc.date.accessioned2024-12-29T09:38:58Z
dc.date.issued2023
dc.description.abstractN/A
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue8
dc.description.publisherscopeInternational
dc.description.sponsorsFunding text 1: We thank the patients and their families for participating in this study. We thank the Centre d'Expertise et de Services Génome Québec for assistance with Sanger sequencing. This study was supported as part of the PROSPAX consortium (by the Deutsche Forschungsgemeinschaft, DFG, German Research Foundation, no.: 441409627, to M.S. and B.B.) and of the TREAT-ARCA consortium (by the BMBF, 01GM2005, to M.S. and B.B.) both under the frame of the European Joint Programme on Rare Diseases (EJP RD), under EJP RD COFUND-EJP number 825575. B.B. is supported by the Fondation Groupe Monaco and the Montreal General Hospital Foundation. N.A.B. is supported by the Suna and Inan Kıraç Foundation. H.H. is supported by the Wellcome Trust, the UK Medical Research Council (MRC), and the UCLH/UCL Biomedical Research Centre. D.P. holds a Fellowship award from the Canadian Institutes of Health Research (CIHR). The funders had no role in the conduct of this study.; Funding text 2: We thank the patients and their families for participating in this study. We thank the Centre d'Expertise et de Services Génome Québec for assistance with Sanger sequencing. This study was supported as part of the PROSPAX consortium (by the Deutsche Forschungsgemeinschaft, DFG, German Research Foundation, no.: 441409627, to M.S. and B.B.) and of the TREAT‐ARCA consortium (by the BMBF, 01GM2005, to M.S. and B.B.) both under the frame of the European Joint Programme on Rare Diseases (EJP RD), under EJP RD COFUND‐EJP number 825575. B.B. is supported by the Fondation Groupe Monaco and the Montreal General Hospital Foundation. N.A.B. is supported by the Suna and Inan Kıraç Foundation. H.H. is supported by the Wellcome Trust, the UK Medical Research Council (MRC), and the UCLH/UCL Biomedical Research Centre. D.P. holds a Fellowship award from the Canadian Institutes of Health Research (CIHR). The funders had no role in the conduct of this study.
dc.description.volume38
dc.identifier.doi10.1002/mds.29552
dc.identifier.eissn1531-8257
dc.identifier.issn0885-3185
dc.identifier.quartileQ1
dc.identifier.scopus2-s2.0-85167886082
dc.identifier.urihttps://doi.org/10.1002/mds.29552
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22869
dc.identifier.wos1142827700018
dc.keywordsAtaxia
dc.keywordsCerebellar ataxia
dc.keywordsChile
dc.keywordsFriedreich ataxia
dc.keywordsHumans
dc.keywordsTrinucleotide repeat expansion
dc.languageen
dc.publisherJohn Wiley and Sons Inc
dc.relation.grantnoCentre d'Expertise et de Services Génome Québec
dc.relation.grantnoFondation Groupe Monaco
dc.relation.grantnoSuna and Inan Kıraç Foundation
dc.relation.grantnoWellcome Trust, WT
dc.relation.grantnoCanadian Institutes of Health Research, IRSC
dc.relation.grantnoMedical Research Council, MRC
dc.relation.grantnoUniversity College London, UCL
dc.relation.grantnoDeutsche Forschungsgemeinschaft, DFG, (441409627)
dc.relation.grantnoBundesministerium für Bildung und Forschung, BMBF, (01GM2005, 825575)
dc.relation.grantnoUCLH Biomedical Research Centre, NIHR BRC
dc.relation.grantnoFondation de l'Hôpital Général de Montréal
dc.sourceMovement Disorders
dc.subjectClinical neurology
dc.titleNon-GAA repeat expansions in FGF14 are likely not pathogenic—reply to: “shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a chilean family”
dc.typeLetter
dspace.entity.typePublication
local.contributor.kuauthorTekgül, Şeyma

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