Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Autor: Boutaud L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.; Embryology and genetics of human malformations, Université Paris Cité, Imagine institute, Inserm UMR 1163, 75015 Paris, France., Ruzzenente B; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France., Tessier A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Anselem O; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France., Pannier E; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France., Grotto S; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France., Talhi N; Pathological Anatomy and Cytology, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France., Amram D; Medical Genetics Department, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France., Willems M; Medical Genetics Department, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Montpellier university Hospital, 34295 Montpellier, France., Wells C; Medical Genetics Department, Montpellier university Hospital, 34295 Montpellier, France.; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France., Blanchet P; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France., Musizzano Y; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France., Jauny C; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France., Nitschke P; Bioinformatics platform, Structure Fédérative de Recherche de Necker, Université Paris Cité, Institut Imagine, Inserm UMR 1163, 75015 Paris, France., Bole-Feysot C; 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., Bessières B; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Salhi H; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Achaiaa A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Metodiev MD; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 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; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France., Loeuilllet L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 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.; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.

Publikováno v: Brain : a journal of neurology [Brain] 2023 May 02; Vol. 146 (5), pp. 1804-1811.

Modality Agnostic Model for Spatial Resolution in Mass Spectrometry Imaging: Application to MALDI MSI Data.

Autor: Metodiev MD; National Centre of Excellence in Mass Spectrometry Imaging (NiCE-MSI), National Physical Laboratory (NPL), Teddington, TW11 0LW, U.K.; Faculty of Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, London SW7 2AZ, U.K., Steven RT; National Centre of Excellence in Mass Spectrometry Imaging (NiCE-MSI), National Physical Laboratory (NPL), Teddington, TW11 0LW, U.K., Loizeau X; National Centre of Excellence in Mass Spectrometry Imaging (NiCE-MSI), National Physical Laboratory (NPL), Teddington, TW11 0LW, U.K., Takats Z; Faculty of Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, London SW7 2AZ, U.K.; Biological Mass Spectrometry, The Rosalind Franklin Institute, Harwell Campus, Didcot OX11 OFA, U.K., Bunch J; National Centre of Excellence in Mass Spectrometry Imaging (NiCE-MSI), National Physical Laboratory (NPL), Teddington, TW11 0LW, U.K.; Faculty of Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, London SW7 2AZ, U.K.; Biological Mass Spectrometry, The Rosalind Franklin Institute, Harwell Campus, Didcot OX11 OFA, U.K.

Publikováno v: Analytical chemistry [Anal Chem] 2021 Nov 23; Vol. 93 (46), pp. 15295-15305. Date of Electronic Publication: 2021 Nov 12.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

Autor: Barcia G; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France., Rio M; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France., Assouline Z; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France., Zangarelli C; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Roux CJ; Department of Pediatric Radiology, INSERM UMR 1163, INSERM U1000, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France., de Lonlay P; Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, INEM-1151, G2M, MetabERN, Paris, France., Steffann J; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France.; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Desguerre I; Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Munnich A; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France.; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Bonnefont JP; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France.; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Boddaert N; Department of Pediatric Radiology, INSERM UMR 1163, INSERM U1000, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France., Rötig A; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France.; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Metodiev MD; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Ruzzenente B; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. benedetta.ruzzenente@inserm.fr.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Mar; Vol. 29 (3), pp. 533-538. Date of Electronic Publication: 2020 Nov 09.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Autor: Barcia G; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Rio M; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Assouline Z; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Zangarelli C; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France., Gueguen N; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France., Dumas VD; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France., Marcorelles P; Department of Pathology, CHRU Brest, Brest, France., Schiff M; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Reference Center for Inherited Metabolic Diseases, Robert Debré Hospital, Paris, France., Slama A; Biochemistry laboratory, Bicêtre Hospital, Le Kremlin Bicêtre, France., Barth M; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France., Hully M; Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., de Lonlay P; Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, INEM-1151, G2M, MetabERN, Paris, France., Munnich A; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Desguerre I; Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Bonnefont JP; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Steffann J; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Procaccio V; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France., Boddaert N; Department of Pediatric Radiology, INSERM UMR 1163, INSERM U1000, Necker Enfants Malades Hospital, Imagine Institute, Université Paris Descartes-Sorbonne Paris Cité, Paris, France., Rötig A; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France., Metodiev MD; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France., Ruzzenente B; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.

Publikováno v: Human mutation [Hum Mutat] 2020 Feb; Vol. 41 (2), pp. 397-402. Date of Electronic Publication: 2019 Nov 11.

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Autor: Ruzzenente B; INSERM UMR1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France., Assouline Z; Departments of Pediatrics, Neurology and Genetics, Hôpital Necker-Enfants-Malades, Paris, France., Barcia G; Departments of Pediatrics, Neurology and Genetics, Hôpital Necker-Enfants-Malades, Paris, France., Rio M; Departments of Pediatrics, Neurology and Genetics, Hôpital Necker-Enfants-Malades, Paris, France., Boddaert N; Department of pediatric radiology, INSERM 1000 and INSERM UMR1136, Hôpital Necker-Enfants-Malades AP-HP, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France., Munnich A; INSERM UMR1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.; Departments of Pediatrics, Neurology and Genetics, Hôpital Necker-Enfants-Malades, Paris, France., Rötig A; INSERM UMR1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France., Metodiev MD; INSERM UMR1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.

Publikováno v: Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2047-2059. Date of Electronic Publication: 2018 Oct 03.