Zobrazeno 1 - 10
of 1 567
pro vyhledávání: '"Alston, CL"'
Autor:
Correia SP; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Moedas MF; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Taylor LS; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Lim AZ; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Kazior Z; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Rumyantseva A; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Wibom R; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Engvall M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Bruhn H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Lesko N; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Végvári Á; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Käll L; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH-Royal Institute of Technology, Solna, Sweden., Trost M; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Laboratory for Biomedical Mass Spectrometry, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom., Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Freyer C; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Publikováno v:
JCI insight [JCI Insight] 2024 Oct 22; Vol. 9 (20). Date of Electronic Publication: 2024 Oct 22.
Autor:
Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Tabara LC; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Munro B; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 3EB, UK., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Sonmezler E; Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Lu S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Tilokani L; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Flannery PJ; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Patel N; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Pope SAS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Heales SJR; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Hammadi DBH; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa ON K1H 8L1, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa ON K1Y 4E9, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg 79106, Germany.; Centro Nacional de Análisis Genómico (CNAG), Barcelona Institute of Science and Technology (BIST), Barcelona 08003, Spain., Woodward CE; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK., Labrum R; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Chronopoulou E; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol BS1 3NU, UK., Pierre G; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol BS1 3NU, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Taanman JW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Hiz S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey.; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey., Oktay Y; Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey.; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12311, Egypt., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 3EB, UK., Prudent J; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Aug 30. Date of Electronic Publication: 2024 Aug 30.
Autor:
Sung AY; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Guerra RM; Department of Cell Biology and Physiology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Steenberge LH; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA., Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Okazaki Y; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Shimura M; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany., Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, Germany., Ghezzi D; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milan, Italy., Torraco A; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Carrozzo R; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rötig A; Université Paris Cité, Imagine Institute, INSERM UMR 1163, Paris, France., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Keck JL; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Pagliarini DJ; Department of Cell Biology and Physiology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. pagliarini@wustl.edu.; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO, USA. pagliarini@wustl.edu.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. pagliarini@wustl.edu.
Publikováno v:
Nature metabolism [Nat Metab] 2024 Jun; Vol. 6 (6), pp. 1128-1142. Date of Electronic Publication: 2024 May 08.
Autor:
Deen D; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hudson G; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Pyle A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. angela.pyle@newcastle.ac.uk.
Publikováno v:
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2023; Vol. 2615, pp. 397-425.
Autor:
Ng, YS, Martikainen, M, Gorman, G, Blain, A, Bugiardini, E, Bunting, A, Schaefer, A, Alston, CL, Blakely, EL, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Chinnery, P, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, M, Pitceathly, R, Taylor, RW, Turnbull, D, McFarland, R
Importance: Mutations in the mitochondrial MT-ATP6 gene are an important cause of mitochondrial disease. Phenotypes related to these mutations include Leigh syndrome (LS), and the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP); howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::a9e0a514531f2ca259874b1236918180
https://ora.ox.ac.uk/objects/uuid:65d43f24-a25e-4a5d-95d0-6b3be8e1104f
https://ora.ox.ac.uk/objects/uuid:65d43f24-a25e-4a5d-95d0-6b3be8e1104f
Autor:
Mavraki E; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Labrum R; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Sergeant K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Alston CL; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Woodward C; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Smith C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Knowles CVY; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Patel Y; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Hodsdon P; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Baines JP; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Blakely EL; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Polke J; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Taylor RW; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Fratter C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. Carl.Fratter@ouh.nhs.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Feb; Vol. 31 (2), pp. 148-163. Date of Electronic Publication: 2022 Dec 13.
Autor:
Nolden KA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Egner JM; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Collier JJ; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada., Russell OM; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Harwig MC; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Widlansky ME; Department of Medicine, Division of Cardiovascular Medicine and Department of Pharmacology, Medical College of Wisconsin, Milwaukee, WI, USA., Sasorith S; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire and PhyMedExp, INSERM U1046, CNRS UMR 9214, Montpellier, France., Barbosa IA; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK., Douglas AG; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK., Walker M; Department of Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK., Morris AA; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Tan HJ; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Kurian MA; Developmental Neurosciences Department, Zayed Centre for Research into Rare Diseases in Children, University College London Great Ormond Street Institute of Child Health, Faculty of Population Health Sciences, London, UK., Gorman K; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Mordekar S; Department of Paediatric Neurology, Sheffield Children's Hospital, Sheffield, UK., Deshpande C; Clinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London, UK., Samanta R; Department of Paediatric Neurology, University Hospitals Leicester NHS Trust, Leicester, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hill RB; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Oláhová M; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK monika.olahova@ncl.ac.uk.
Publikováno v:
Life science alliance [Life Sci Alliance] 2022 Aug 01; Vol. 5 (12). Date of Electronic Publication: 2022 Aug 01.
Autor:
Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R
Publikováno v:
Annals of Neurology
Distinct clinical syndromes have been associated with pathogenicMT‐ATP6variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one individuals p
Autor:
Yépez VA; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Informatics, Technical University of Munich, Garching, Germany.; Quantitative Biosciences Munich, Department of Biochemistry, Ludwig-Maximilians-Universität, Munich, Germany., Gusic M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany., Kopajtich R; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Mertes C; Department of Informatics, Technical University of Munich, Garching, Germany., Smith NH; Department of Informatics, Technical University of Munich, Garching, Germany., Alston CL; 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 Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK., Ban R; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), Center for Rare Diseases, University Hospitals, University of Leipzig, Leipzig, Germany., Berutti R; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Blessing H; Department for Inborn Metabolic Diseases, Children's and Adolescents' Hospital, University of Erlangen-Nürnberg, Erlangen, Germany., Ciara E; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany., Freisinger P; Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany., Häberle J; University Children's Hospital Zurich and Children's Research Centre, Zürich, Switzerland., Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, USA., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Itkis YS; Research Centre for Medical Genetics, Moscow, Russia., Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Krylova TD; Research Centre for Medical Genetics, Moscow, Russia., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy., Lenz D; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Makowski C; Department of Pediatrics, Technical University of Munich, Munich, Germany., Mosegaard S; Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Müller MF; Department of Informatics, Technical University of Munich, Garching, Germany., Muñoz-Pujol G; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Nadel A; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Ohtake A; Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan., Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan., Procopio E; Inborn Metabolic and Muscular Disorders Unit, Anna Meyer Children Hospital, Florence, Italy., Schwarzmayr T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Smet J; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Staufner C; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Stenton SL; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Strom TM; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Terrile C; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Tort F; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Van Coster R; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Vanlander A; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Wagner M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Xu M; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Fang F; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Mayr JA; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria., Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Ribes A; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Rötig A; Université de Paris, Institut Imagine, INSERM UMR 1163, Paris, France., Taylor RW; 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 Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK., Wortmann SB; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc Nijmegen, Nijmegen, The Netherlands., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Meitinger T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Gagneur J; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. gagneur@in.tum.de.; Department of Informatics, Technical University of Munich, Garching, Germany. gagneur@in.tum.de.; Institute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany. gagneur@in.tum.de., Prokisch H; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. prokisch@helmholtz-muenchen.de.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany. prokisch@helmholtz-muenchen.de.; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. prokisch@helmholtz-muenchen.de.
Publikováno v:
Genome medicine [Genome Med] 2022 Apr 05; Vol. 14 (1), pp. 38. Date of Electronic Publication: 2022 Apr 05.
Autor:
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 967.