Biallelic Variants in ARHGAP19 Cause a Progressive Inherited Motor-Predominant Neuropathy-An Update

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dc.contributor.authorDominik, Natalia
dc.contributor.authorEfthymiou, Stephanie
dc.contributor.authorRecord, Chris
dc.contributor.authorMiao, Xinyu
dc.contributor.authorLin, Renee
dc.contributor.authorParmar, Jevin
dc.contributor.authorScardamaglia, Annarita
dc.date.accessioned2026-04-04T13:37:51Z
dc.date.available2026-04-04T13:37:51Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstract[No abstract available]
dc.description.sponsorshipWellcome Trust [WT093205 MA, WT104033AIA]; National Institute for Health Research University College London Hospitals Biomedical Research Centre; MRC
dc.description.sponsorshipThe families were collected as part of the SYNaPS Study Group collaboration funded by The Wellcome Trust and strategic award (Synaptopathies) funding (WT093205 MA and WT104033AIA) and research was conducted as part of the Queen Square Genomics group at University College London, supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. This work was partly supported by an MRC strategic award to establish ICGNMD
dc.identifier.endpage25
dc.identifier.issn1085-9489
dc.identifier.issn1529-8027
dc.identifier.issue3
dc.identifier.orcid0000-0002-3357-2801
dc.identifier.orcid0000-0002-3484-3423
dc.identifier.orcid0000-0003-4900-9877
dc.identifier.orcid0000-0001-9398-2127
dc.identifier.startpage24
dc.identifier.urihttps://hdl.handle.net/11616/110109
dc.identifier.volume30
dc.identifier.wosWOS:001642234100043
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofJournal of the Peripheral Nervous System
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250329
dc.subjectARHGAP19
dc.subjectCMT
dc.subjectNeuropathy
dc.subjectCharcot-Marie-Tooth
dc.subjectRho-pathway
dc.titleBiallelic Variants in ARHGAP19 Cause a Progressive Inherited Motor-Predominant Neuropathy-An Update
dc.typeConference Object

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