Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Sommerville Ew"'
Trichomonas vaginalisis one of the most widespread, sexually transmitted pathogens. The infection involves a morphological switch from a free-swimming pyriform trophozoite to an amoeboid cell upon adhesion to host epithelial cells. While details on h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b298c6e5c5afdc69c4a82bc699e69909
https://doi.org/10.1101/454884
https://doi.org/10.1101/454884
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Shintaku J; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, New York, USA., Pernice WM; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, New York, USA., Eyaid W; Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Gc JB; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York, USA., Brown ZP; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York, USA., Juanola-Falgarona M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, New York, USA., Torres-Torronteras J; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain., Sommerville EW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom., Hellebrekers DM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands., Blakely EL; Wellcome Centre for Mitochondrial Research, 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., Donaldson A; Clinical Genetics Service, University of Bristol NHS Foundation Trust, Bristol, United Kingdom., van de Laar I; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Leu CS; Mailman School of Public Health and., Marti R; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain., Frank J; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York, USA.; Department of Biological Sciences, Columbia University, New York, New York, USA., Tanji K; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Rodenburg RJ; Radboud Centre for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Nijmegen, Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Chinnery PF; MRC Mitochondrial Biology Unit and.; Department of Clinical Neuroscience, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Smeets HJM; Department of Genetics and Cell Biology, Clinical Genomics Unit, and.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands., Gorman GS; Wellcome Centre for Mitochondrial Research, 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., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Taylor RW; Wellcome Centre for Mitochondrial Research, 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., Hirano M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, New York, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2022 Jul 01; Vol. 132 (13).
Autor:
Oláhová M; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Peter B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Szilagyi Z; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Diaz-Maldonado H; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Singh M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Sommerville EW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Blakely EL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Collier JJ; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Hoberg E; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic., Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic., Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, USA., McBride KL; Center for Cardiovascular and Pulmonary Research, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, USA., Bowden SA; Division of Endocrinology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, USA., Korandová Z; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic.; Department of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic., Pecinová A; Department of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic., Ropers HH; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Tarnopolsky MA; Department of Pediatric and Medicines, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Children's Hospital, Hamilton, Canada., Brady LI; Department of Pediatric and Medicines, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Children's Hospital, Hamilton, Canada., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Prada CE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Department of Pediatrics, Cardiovascular Foundation of Colombia, Floridablanca, Colombia., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Syeda SB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Estrella EA; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Bruels CC; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA., Kunkel LM; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Kang PB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.; Department of Molecular Genetics & Microbiology, and Department of Neurology, University of Florida College of Medicine, Gainesville, FL, USA.; Genetics Institute and Myology Institute, University of Florida, Gainesville, FL, USA., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Mráček T; Department of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, 120 00, Czech Republic., Gorman GS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. claes.gustafsson@medkem.gu.se., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. robert.taylor@ncl.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2021 Feb 18; Vol. 12 (1), pp. 1135. Date of Electronic Publication: 2021 Feb 18.
Autor:
Sommerville EW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Dalla Rosa I; Department of Clinical and Movement Neurosciences, UCL Queens Square Institute of Neurology, Royal Free Campus, University College London, London, UK., Rosenberg MM; Department of Biology, Brandeis University, Waltham, MA., Bruni F; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari 'ldo Moro', Bari, Italy., Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Rocha M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Blakely EL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., He L; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Falkous G; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Schaefer AM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Yu-Wai-Man P; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Chinnery PF; Department of Clinical Neuroscience & Medical Research Council Mitochondrial Biology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Hedstrom L; Department of Biology, Brandeis University, Waltham, MA.; Department of Chemistry, Brandeis University, 415 South St., Waltham, MA., Spinazzola A; Department of Clinical and Movement Neurosciences, UCL Queens Square Institute of Neurology, Royal Free Campus, University College London, London, UK.; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Gorman GS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Publikováno v:
Clinical genetics [Clin Genet] 2020 Feb; Vol. 97 (2), pp. 276-286. Date of Electronic Publication: 2019 Nov 14.
Autor:
Keshavan N; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK., Abdenur J; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA., Anderson G; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Assouline Z; Department of Genetics, Necker Hospital-Sick Children, Paris, France., Barcia G; Department of Genetics, Necker Hospital-Sick Children, Paris, France., Bouhikbar L; GOSgene Centre for Translational Omics, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR GOSH Biomedical Research Centre, London, UK., Chakrapani A; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Cleary M; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Cohen MC; Sheffield Children's NHS Foundation Trust, Sheffield, UK., Feillet F; Reference Centre for Inherited Metabolic Diseases, Nancy, France., Fratter C; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Hauser N; Inova Translational Medicine Institute, Falls Church, VA, USA., Jacques T; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Lam A; Neurometabolic Unit, National Hospital of Neurology and Neurosurgery, London, UK.; UCL Queen Square Institute of Neurology, London, UK., McCullagh H; Department of Paediatric Neurology, Leeds Children's Hospital, Leeds, UK., Phadke R; UCL Queen Square Institute of Neurology, London, UK., Rötig A; Imagine Institute, Paris, France., Sharrard M; Sheffield Children's NHS Foundation Trust, Sheffield, UK., Simon M; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA., Smith C; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Sommerville EW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Yue WW; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Rahman S; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. shamima.rahman@ucl.ac.uk.; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK. shamima.rahman@ucl.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jan; Vol. 22 (1), pp. 199-209. Date of Electronic Publication: 2019 Aug 29.
Autor:
Handrich MR; Institute for Molecular Evolution, Heinrich-Heine-University, Universitätsstraße 1, 40225, Düsseldorf, Germany., Garg SG; Institute for Molecular Evolution, Heinrich-Heine-University, Universitätsstraße 1, 40225, Düsseldorf, Germany., Sommerville EW; Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Hirt RP; Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Gould SB; Institute for Molecular Evolution, Heinrich-Heine-University, Universitätsstraße 1, 40225, Düsseldorf, Germany. gould@hhu.de.
Publikováno v:
Parasites & vectors [Parasit Vectors] 2019 Aug 19; Vol. 12 (1), pp. 406. Date of Electronic Publication: 2019 Aug 19.
Autor:
Sommerville EW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Zhou XL; State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China., Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Jenkins J; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Euro L; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Konovalova S; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Hilander T; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Pyle A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., He L; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Habeebu S; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA., Kelsey A; Institute of Human Development, University of Manchester, Manchester M13 9PL, UK; Willink Metabolic Unit, Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK., Morris AAM; Institute of Human Development, University of Manchester, Manchester M13 9PL, UK; Willink Metabolic Unit, Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Suomalainen A; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.; Neuroscience Center, Helsinki Institute of Life Sciences, University of Helsinki, Helsinki Finland.; Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland., Gorman GS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Wang ED; State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA., Tyynismaa H; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2019 Jan 15; Vol. 28 (2), pp. 258-268.
Autor:
Garone C; Department of Neurology, Columbia University Medical Center, New York City, New York, USA.; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK., Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Nascimento A; Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain., Poulton J; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK., Fratter C; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Domínguez-González C; Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain., Evans JC; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Loos M; Neurology Department, Hospital de Pediatría 'Prof. Dr JP Garrahan', Buenos Aires, Argentina., Isohanni P; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.; Department of Child Neurology, Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland., Suomalainen A; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.; Neuroscience Center, University of Helsinki, Helsinki, Finland.; Department of Neurology, Helsinki University Hospital, Helsinki, Finland., Ram D; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK., Hughes MI; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK., McFarland R; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Barca E; Department of Neurology, Columbia University Medical Center, New York City, New York, USA.; UOC Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Lopez Gomez C; Department of Neurology, Columbia University Medical Center, New York City, New York, USA., Jayawant S; Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Thomas ND; Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Manzur AY; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kleinsteuber K; Pediatric Neurology, Faculty of Medicine, Universidad de Chile, Clínica Las Condes, Santiago, Chile., Martin MA; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain., Kerr T; Paediatric Neurology, St George's University Hospitals NHS Foundation Trust, London, UK., Gorman GS; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Sommerville EW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Chinnery PF; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Hofer M; Department of Neuropathology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Karch C; Department of Neurology, University of California San Francisco, San Francisco, California, USA., Ralph J; Department of Neurology, University of California San Francisco, San Francisco, California, USA., Cámara Y; Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Madruga-Garrido M; Sección de Neuropediatría, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Seville, Spain., Domínguez-Carral J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, ISCIII, Universitat de Barcelona, Barcelona, Spain., Ortez C; Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain., Emperador S; Department of Biochemistry and Molecular Biology, University of Zaragoza-CIBERER-Instituto de investigaciones Sanitarias de Aragón, Zaragoza, Spain., Montoya J; Department of Biochemistry and Molecular Biology, University of Zaragoza-CIBERER-Instituto de investigaciones Sanitarias de Aragón, Zaragoza, Spain., Chakrapani A; Metabolic Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Kriger JF; Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York City, New York, USA., Schoenaker R; Department of Neurology, Columbia University Medical Center, New York City, New York, USA., Levin B; Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York City, New York, USA., Thompson JLP; Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York City, New York, USA., Long Y; Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York City, New York, USA., Rahman S; Metabolic Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy., DiMauro S; Department of Neurology, Columbia University Medical Center, New York City, New York, USA., Hirano M; Department of Neurology, Columbia University Medical Center, New York City, New York, USA.
Publikováno v:
Journal of medical genetics [J Med Genet] 2018 Aug; Vol. 55 (8), pp. 515-521. Date of Electronic Publication: 2018 Mar 30.
Autor:
Peter B; Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Waddington CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Sommerville EW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hopton S; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Pyle A; Wellcome Centre for Mitochondrial Research, Institute of Genetics, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Champion M; Department of Inherited Metabolic Disease, Guy's and St Thomas' NHS Foundation Trusts, Evelina London Children's Hospital, London, UK., Ohlson M; Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Siibak T; Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Chrzanowska-Lightowlers ZMA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Falkenberg M; Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Lightowlers RN; Wellcome Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2018 May 15; Vol. 27 (10), pp. 1743-1753.