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Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

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Title: Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Authors: Zereg E; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Chaussenot A; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Morel G; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Bannwarth S; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Sacconi S; Department of Clinical Neurosciences, Neuromuscular Diseases Centre, Nice Teaching Hospital, Nice, France., Soriani MH; Department of Clinical Neurosciences, Neuromuscular Diseases Centre, Nice Teaching Hospital, Nice, France., Attarian S; Neurology Department, Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, Marseille, France., Cano A; Pediatric Neurology Department, Reference Center for Inherited Metabolic Diseases, Timone Hospital, Marseille, France., Pouget J; Neurology Department, Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, Marseille, France., Bellance R; Neuromyology Department, Neuromuscular Reference Center, Fort-de-France Teaching Hospital, Fort-de-France, France., Tranchant C; Department of Movement Pathology, Strasbourg Teaching Hospital, Strasbourg, France., Lannes B; Pathology Department, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France., de Paula AM; Pathology Department, Timone University Hospital, Aix-Marseille University, Marseille, France., Saadi Ait-El-Mkadem S; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Chafino B; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Berthet M; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Fragaki K; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Paquis-Flucklinger V; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France., Rouzier C; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.
Source: Human mutation [Hum Mutat] 2020 Aug; Vol. 41 (8), pp. 1394-1406. Date of Electronic Publication: 2020 Jun 12.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
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  Data: <searchLink fieldCode="AU" term="%22Zereg+E%22">Zereg E</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Chaussenot+A%22">Chaussenot A</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.<br /><searchLink fieldCode="AU" term="%22Morel+G%22">Morel G</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Bannwarth+S%22">Bannwarth S</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.<br /><searchLink fieldCode="AU" term="%22Sacconi+S%22">Sacconi S</searchLink>; Department of Clinical Neurosciences, Neuromuscular Diseases Centre, Nice Teaching Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Soriani+MH%22">Soriani MH</searchLink>; Department of Clinical Neurosciences, Neuromuscular Diseases Centre, Nice Teaching Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Attarian+S%22">Attarian S</searchLink>; Neurology Department, Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Cano+A%22">Cano A</searchLink>; Pediatric Neurology Department, Reference Center for Inherited Metabolic Diseases, Timone Hospital, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Pouget+J%22">Pouget J</searchLink>; Neurology Department, Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Bellance+R%22">Bellance R</searchLink>; Neuromyology Department, Neuromuscular Reference Center, Fort-de-France Teaching Hospital, Fort-de-France, France.<br /><searchLink fieldCode="AU" term="%22Tranchant+C%22">Tranchant C</searchLink>; Department of Movement Pathology, Strasbourg Teaching Hospital, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Lannes+B%22">Lannes B</searchLink>; Pathology Department, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22de+Paula+AM%22">de Paula AM</searchLink>; Pathology Department, Timone University Hospital, Aix-Marseille University, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Saadi+Ait-El-Mkadem+S%22">Saadi Ait-El-Mkadem S</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.<br /><searchLink fieldCode="AU" term="%22Chafino+B%22">Chafino B</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Berthet+M%22">Berthet M</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Fragaki+K%22">Fragaki K</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.<br /><searchLink fieldCode="AU" term="%22Paquis-Flucklinger+V%22">Paquis-Flucklinger V</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.<br /><searchLink fieldCode="AU" term="%22Rouzier+C%22">Rouzier C</searchLink>; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2020 Aug; Vol. 41 (8), pp. 1394-1406. <i>Date of Electronic Publication: </i>2020 Jun 12.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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