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Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.

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Bibliographic Details
Title: Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.
Authors: Thys L; Department of Pediatric Neurology, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium. Electronic address: liene.thys@uza.be., Beysen D; Department of Pediatric Neurology, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium., Janssens K; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium., Jansen AC; Department of Pediatric Neurology, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium., Gueguen N; University Angers, MitoLab Team, MitoVasc Unit, CNRS UMR6015, Inserm U1083, SFR-ICAT, Angers, France; Departments of Biochemistry and Molecular Biology, Angers University Hospital, Angers, France., LeMao M; University Angers, MitoLab Team, MitoVasc Unit, CNRS UMR6015, Inserm U1083, SFR-ICAT, Angers, France., Fontaine F; Department of Biochemistry, University Hospital of Caen, Caen, France; Physiopathology and Imaging of Neurological Disorders, UMRS1237, University of Caen Normandie, Caen, France., Allouche S; Department of Biochemistry, University Hospital of Caen, Caen, France; Physiopathology and Imaging of Neurological Disorders, UMRS1237, University of Caen Normandie, Caen, France., Lenaers G; University Angers, MitoLab Team, MitoVasc Unit, CNRS UMR6015, Inserm U1083, SFR-ICAT, Angers, France; Departments of Biochemistry and Molecular Biology, Angers University Hospital, Angers, France; Department of Biochemistry, University Hospital of Caen, Caen, France; Physiopathology and Imaging of Neurological Disorders, UMRS1237, University of Caen Normandie, Caen, France; Department of Neurology, Angers University Hospital, Angers, France., Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109266. Date of Electronic Publication: 2025 Oct 24.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2025.109266