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Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Boutaud, Lucile; Ruzzenente, Benedetta; Tessier, Aude; Anselem, Olivia; Pannier, Emmanuelle; Grotto, Sarah; Talhi, Naïma; Amram, Daniel; Willems, Marjolaine; Wells, Constance; Blanchet, Patricia; Musizzano, Yuri; Jauny, Clémence; Nitschke, Patrick; Bole-Feysot, Christine; Bessières, Bettina; Salhi, Houria; Achaiaa, Amale; Metodiev, Metodi D; Razavi, Ferechte; Rötig, Agnès; Loeuilllet, Laurence; Attié-Bitach, Tania.
Afiliação
  • Boutaud L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.
  • Ruzzenente B; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.
  • Tessier A; Embryology and genetics of human malformations, Université Paris Cité, Imagine institute, Inserm UMR 1163, 75015 Paris, France.
  • Anselem O; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France.
  • Pannier E; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.
  • Grotto S; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.
  • Talhi N; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.
  • Amram D; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.
  • Willems M; Pathological Anatomy and Cytology, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France.
  • Wells C; Medical Genetics Department, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France.
  • Blanchet P; Medical Genetics Department, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Montpellier university Hospital, 34295 Montpellier, France.
  • Musizzano Y; Medical Genetics Department, Montpellier university Hospital, 34295 Montpellier, France.
  • Jauny C; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.
  • Nitschke P; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.
  • Bole-Feysot C; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.
  • Bessières B; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.
  • Salhi H; Bioinformatics platform, Structure Fédérative de Recherche de Necker, Université Paris Cité, Institut Imagine, Inserm UMR 1163, 75015 Paris, France.
  • Achaiaa A; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, 75015 Paris, France.
  • Metodiev MD; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.
  • Razavi F; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.
  • Rötig A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.
  • Loeuilllet L; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France.
  • Attié-Bitach T; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.
Brain ; 146(5): 1804-1811, 2023 05 02.
Article em En | MEDLINE | ID: mdl-36349561

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Corpo Caloso / Doenças Mitocondriais Tipo de estudo: Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Brain Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Corpo Caloso / Doenças Mitocondriais Tipo de estudo: Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Brain Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França