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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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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
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  Data: Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.
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  Data: <searchLink fieldCode="AU" term="%22Thys+L%22">Thys L</searchLink>; Department of Pediatric Neurology, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium. Electronic address: liene.thys@uza.be.<br /><searchLink fieldCode="AU" term="%22Beysen+D%22">Beysen D</searchLink>; Department of Pediatric Neurology, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Janssens+K%22">Janssens K</searchLink>; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Jansen+AC%22">Jansen AC</searchLink>; Department of Pediatric Neurology, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Gueguen+N%22">Gueguen N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22LeMao+M%22">LeMao M</searchLink>; University Angers, MitoLab Team, MitoVasc Unit, CNRS UMR6015, Inserm U1083, SFR-ICAT, Angers, France.<br /><searchLink fieldCode="AU" term="%22Fontaine+F%22">Fontaine F</searchLink>; Department of Biochemistry, University Hospital of Caen, Caen, France; Physiopathology and Imaging of Neurological Disorders, UMRS1237, University of Caen Normandie, Caen, France.<br /><searchLink fieldCode="AU" term="%22Allouche+S%22">Allouche S</searchLink>; Department of Biochemistry, University Hospital of Caen, Caen, France; Physiopathology and Imaging of Neurological Disorders, UMRS1237, University of Caen Normandie, Caen, France.<br /><searchLink fieldCode="AU" term="%22Lenaers+G%22">Lenaers G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Meuwissen+M%22">Meuwissen M</searchLink>; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Wilrijk, Edegem, Belgium.
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  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109266. <i>Date of Electronic Publication: </i>2025 Oct 24.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
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              Text: 2025 Nov
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