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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

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Title: Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Authors: Blickhäuser B; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany., Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Neuhofer CM; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Floride E; Institute for Human Genetics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Nesbitt V; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Fratter C; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Koch J; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands., Kauffmann B; Klinikum Bremen Mitte, Department of Pediatrics, Neuropediatrics, 28205 Bremen, Germany., Catarino C; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany., Schlieben LD; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Kopajtich R; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Sadun AA; Doheny Eye Institute, Pasadena, CA 91105, USA.; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA 10833, USA., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK., Fang F; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Paquay S; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium., Nassogne MC; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Wortmann S; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands., Poulton J; Nuffield Department of Women's and Reproductive Health University of Oxford, The Women's Centre, Oxford, OX3 9DU, UK., Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany., Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Source: Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 1967-1974.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
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  Data: <searchLink fieldCode="AU" term="%22Blickhäuser+B%22">Blickhäuser B</searchLink>; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Stenton+SL%22">Stenton SL</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Neuhofer+CM%22">Neuhofer CM</searchLink>; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Floride+E%22">Floride E</searchLink>; Institute for Human Genetics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Nesbitt+V%22">Nesbitt V</searchLink>; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.<br /><searchLink fieldCode="AU" term="%22Fratter+C%22">Fratter C</searchLink>; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.<br /><searchLink fieldCode="AU" term="%22Koch+J%22">Koch J</searchLink>; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kauffmann+B%22">Kauffmann B</searchLink>; Klinikum Bremen Mitte, Department of Pediatrics, Neuropediatrics, 28205 Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Catarino+C%22">Catarino C</searchLink>; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Schlieben+LD%22">Schlieben LD</searchLink>; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kopajtich+R%22">Kopajtich R</searchLink>; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Carelli+V%22">Carelli V</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Sadun+AA%22">Sadun AA</searchLink>; Doheny Eye Institute, Pasadena, CA 91105, USA.; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA 10833, USA.<br /><searchLink fieldCode="AU" term="%22McFarland+R%22">McFarland R</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK.<br /><searchLink fieldCode="AU" term="%22Fang+F%22">Fang F</searchLink>; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.<br /><searchLink fieldCode="AU" term="%22La+Morgia+C%22">La Morgia C</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Paquay+S%22">Paquay S</searchLink>; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium.<br /><searchLink fieldCode="AU" term="%22Nassogne+MC%22">Nassogne MC</searchLink>; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium.<br /><searchLink fieldCode="AU" term="%22Ghezzi+D%22">Ghezzi D</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Lamperti+C%22">Lamperti C</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Wortmann+S%22">Wortmann S</searchLink>; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Poulton+J%22">Poulton J</searchLink>; Nuffield Department of Women's and Reproductive Health University of Oxford, The Women's Centre, Oxford, OX3 9DU, UK.<br /><searchLink fieldCode="AU" term="%22Klopstock+T%22">Klopstock T</searchLink>; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Prokisch+H%22">Prokisch H</searchLink>; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
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        StartPage: 1967
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