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Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.
Lhuissier, Charlène; Wagner, Bart E; Vincent, Amy; Garraux, Gaëtan; Hougrand, Olivier; Van Coster, Rudy; Benoit, Valerie; Karadurmus, Deniz; Lenaers, Guy; Gueguen, Naïg; Chevrollier, Arnaud; Maystadt, Isabelle.
Afiliação
  • Lhuissier C; MitoLab Team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Université d'Angers, Angers, France.
  • Wagner BE; Department of Histopathology, Royal Hallamshire Hospital, Sheffield, United Kingdom.
  • Vincent A; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Garraux G; GIGA-CRC in vivo Imaging, University of Liège, Liège, Belgium.
  • Hougrand O; Department of Neurology, CHU Liège, Liège, Belgium.
  • Van Coster R; Département d'Anatomie Pathologique, CHU Liège, Liège, Belgium.
  • Benoit V; Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.
  • Karadurmus D; Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Lenaers G; Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Gueguen N; MitoLab Team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Université d'Angers, Angers, France.
  • Chevrollier A; Service de Neurologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
  • Maystadt I; MitoLab Team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Université d'Angers, Angers, France.
Front Neurol ; 13: 937885, 2022.
Article em En | MEDLINE | ID: mdl-36212643
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França