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Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

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Title: Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Authors: Carli S; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Italy., Levarlet A; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Italy., Diodato D; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy., Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy., Martinelli D; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy., Malandrini A; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy., Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy., Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy., Ganetzky RD; Division of Human Genetics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, PA., La Morgia C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche, UOC Clinica Neurologica, Bologna, Italy., Carelli V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Primiano G; Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Domínguez-González C; Neurology Department. Neuromuscular Unit, ERN-NMD. Hospital Universitario 12 de Octubre, Madrid, Spain.; Mitochondrial and Neuromuscular Disorders Group, Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Serrano-Lorenzo P; Mitochondrial and Neuromuscular Disorders Group, Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Martín MA; Mitochondrial and Neuromuscular Disorders Group, Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Ardissone A; Neuropschiatric Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lamperti C; Neuropschiatric Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Nicoletta V; Neuropschiatric Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Germany.; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University Düsseldorf, Germany., Zeng L; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Germany.; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany., Büchner B; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Germany.; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa and AOUP, Italy., Schuelke M; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, Germany., Prigione A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany; and., Garone C; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Italy.; UOC Neuropsichiatria dell'Età Pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Source: Neurology [Neurology] 2025 Apr; Vol. 104 (7), pp. e213462. Date of Electronic Publication: 2025 Mar 20.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
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  Data: <searchLink fieldCode="AU" term="%22Carli+S%22">Carli S</searchLink>; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Levarlet+A%22">Levarlet A</searchLink>; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Diodato+D%22">Diodato D</searchLink>; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+ES%22">Bertini ES</searchLink>; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Martinelli+D%22">Martinelli D</searchLink>; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Malandrini+A%22">Malandrini A</searchLink>; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Lopergolo+D%22">Lopergolo D</searchLink>; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Gallus+GN%22">Gallus GN</searchLink>; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Ganetzky+RD%22">Ganetzky RD</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, PA.<br /><searchLink fieldCode="AU" term="%22La+Morgia+C%22">La Morgia C</searchLink>; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche, UOC Clinica Neurologica, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Carelli+V%22">Carelli V</searchLink>; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Primiano+G%22">Primiano G</searchLink>; Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Domínguez-González+C%22">Domínguez-González C</searchLink>; Neurology Department. Neuromuscular Unit, ERN-NMD. Hospital Universitario 12 de Octubre, Madrid, Spain.; Mitochondrial and Neuromuscular Disorders Group, Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Serrano-Lorenzo+P%22">Serrano-Lorenzo P</searchLink>; Mitochondrial and Neuromuscular Disorders Group, Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martín+MA%22">Martín MA</searchLink>; Mitochondrial and Neuromuscular Disorders Group, Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ardissone+A%22">Ardissone A</searchLink>; Neuropschiatric Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Lamperti+C%22">Lamperti C</searchLink>; Neuropschiatric Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Nicoletta+V%22">Nicoletta V</searchLink>; Neuropschiatric Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Klopstock+T%22">Klopstock T</searchLink>; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Germany.; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Distelmaier+F%22">Distelmaier F</searchLink>; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Zeng+L%22">Zeng L</searchLink>; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Germany.; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Büchner+B%22">Büchner B</searchLink>; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Germany.; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Mancuso+M%22">Mancuso M</searchLink>; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa and AOUP, Italy.<br /><searchLink fieldCode="AU" term="%22Schuelke+M%22">Schuelke M</searchLink>; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, Germany.<br /><searchLink fieldCode="AU" term="%22Prigione+A%22">Prigione A</searchLink>; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany; and.<br /><searchLink fieldCode="AU" term="%22Garone+C%22">Garone C</searchLink>; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Italy.; UOC Neuropsichiatria dell'Età Pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
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  Data: <searchLink fieldCode="JN" term="%220401060%22">Neurology</searchLink> [Neurology] 2025 Apr; Vol. 104 (7), pp. e213462. <i>Date of Electronic Publication: </i>2025 Mar 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0401060 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1526-632X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200283878%22">00283878 </searchLink><i>NLM ISO Abbreviation: </i>Neurology <i>Subsets: </i>MEDLINE
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