المؤلفون: Yi Shiau Ng, Nichola Z Lax, Alasdair P Blain, Daniel Erskine, Mark R Baker, Tuomo Polvikoski, Rhys H Thomas, Christopher M Morris, Ming Lai, Roger G Whittaker, Alasdair Gebbels, Amy Winder, Julie Hall, Catherine Feeney, Maria Elena Farrugia, Claire Hirst, Mark Roberts, Charlotte Lawthom, Alexia Chrysostomou, Kevin Murphy, Tracey Baird, Paul Maddison, Callum Duncan, Joanna Poulton, Victoria Nesbitt, Michael G Hanna, Robert D S Pitceathly, Robert W Taylor, Emma L Blakely, Andrew M Schaefer, Doug M Turnbull, Robert McFarland, Gráinne S Gorman

المصدر: Brain. 145:542-554

مصطلحات موضوعية: Adult, Stroke, Mitochondrial Diseases, Mutation, MELAS Syndrome, Humans, Neurology (clinical), DNA, Mitochondrial, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e14a8384ec670fc947947694bdc9707aTest
https://doi.org/10.1093/brain/awab353Test

المؤلفون: Dagan Wells, Jo Lowndes, D Babariya, Joanna Poulton, M. Konstantinidis, Katharina Spath, James A. Grifo, Tim Child

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mitochondrial DNA, Heredity, Somatic cell, DNA Mutational Analysis, Aneuploidy, Fertilization in Vitro, Biology, medicine.disease_cause, DNA, Mitochondrial, Andrology, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, Pregnancy, medicine, Humans, Genetic Predisposition to Disease, Preimplantation Diagnosis, Genetic testing, Mutation, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Obstetrics and Gynecology, Embryo, Middle Aged, medicine.disease, Heteroplasmy, Pedigree, Blastocyst, 030104 developmental biology, Reproductive Medicine, Female, Leigh Disease, Ploidy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4145a4cf831095774a9acab6adaad1dcTest
https://doi.org/10.1016/j.fertnstert.2021.01.026Test

المؤلفون: Lorena Castillo, Bettina von Livonius, John A. Lincoln, Ghislaine L. Traber, Günther Metz, Rudrani Banik, Joanna Poulton, Günther Rudolph, Andrea L Vincent, Elisabetta Scoppettuolo, Carlos Doncel, Selma Matloob, Clare L. Fraser, Xavier Lloria, Stefan J. Langenegger, Joanna Jakubaszko, Francisco J. Muñoz-Negrete, Adam Zermansky, Claudia B. Catarino, Graeme C.M. Black, Magda Silva, Christopher A. Halfpenny, Nancy J. Newman, Madhura A. Tamhankar, Klara Landau, Christoph Friedburg, Prem S. Subramanian, Oskars Mikazans, Claudia Priglinger, Mariona Vidal, Thomas Klopstock, Ahmed T. Toosy, Felice Lob, Marcin Zarowski, Marcela Votruba, Gölge Acaroglu

المساهمون: University of Zurich

المصدر: J NEURO-OPHTHALMOL
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of neuro-ophthalmology 40(4), 558-565 (2020). doi:10.1097/WNO.0000000000001023
Journal of Neuro-Ophthalmology

مصطلحات موضوعية: Male, Pediatrics, Visual acuity, Time Factors, genetic structures, Ubiquinone, Visual Acuity, 2700 General Medicine, Antioxidants, 0302 clinical medicine, Idebenone, therapeutic use [Antioxidants], drug therapy [Optic Atrophy, Hereditary, Leber], Child, therapeutic use [Ubiquinone], physiopathology [Optic Atrophy, Hereditary, Leber], Diabetic retinopathy, Middle Aged, Safety profile, Treatment Outcome, Clinical Research: Epidemiology Meets Neuro-Ophthalmology, Female, medicine.symptom, medicine.drug, 10018 Ophthalmology Clinic, Adult, LEBER HEREDITARY OPTIC NEUROPATHY, medicine.medical_specialty, Adolescent, 610 Medicine & health, Optic Atrophy, Hereditary, Leber, 03 medical and health sciences, Young Adult, medicine, Humans, ddc:610, Adverse effect, Aged, Retrospective Studies, analogs & derivatives [Ubiquinone], business.industry, medicine.disease, eye diseases, Clinical trial, Ophthalmology, idebenone, Expanded access, 030221 ophthalmology & optometry, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: jno-40-558.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21861a26b020c89014bb7dcf8ef9d9eTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18330Test

المؤلفون: Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles

المساهمون: Department of Medicine 1, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Medical Genetics, Istituto di Scienze e Tecnologie della Cognizione, Consiglio Nazionale delle Ricerche (ISTC, CNR), Istituto di Scienze e Tecnologie della Cognizione, Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique médicale [Centre Hospitalier de Vannes], Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Department of Pediatrics, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Centre de Génétique Chromosomique [Hôpital Saint Vincent de Paul], Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Institute of Human Genetics, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz Zentrum München = German Research Center for Environmental Health, Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Children’s Hospital of Philadelphia (CHOP ), Service de Génétique Médicale, Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Public Health Sciences, Karolinska Institutet [Stockholm], Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Università degli Studi di Camerino = University of Camerino (UNICAM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University of Oxford, GeneDx [Gaithersburg, MD, USA], Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Clinical Genetics, Aarhus University Hospital, Boston Children's Hospital, Wellcome Trust Genome Campus, The Wellcome Trust Sanger Institute [Cambridge], Institute of Biomedical Engineering [Oxford] (IBME), Climatic Research Unit, University of East Anglia [Norwich] (UEA), Imperial College London, St Mary's Hospital, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Sheffield Children's NHS Foundation Trust, Regional Genetic Service, St Mary's Hospital, Manchester, Genetics, University of Southampton, Great Ormond Street Hospital for Children [London] (GOSH), Yorkshire Regional Clinical Genetics Service, Chapel Allerton Hospital, Molecular and Clinical Medicine [Dundee, UK] (School of Medicine), University of Dundee [UK]-Ninewells Hospital & Medical School [Dundee, UK], Department of Clinical Genetics, Oxford Regional Genetics Service, The Churchill hospital, North West Thames Regional Genetics, Northwick Park Hospital, Royal Devon & Exeter Hospital, Wessex Clinical Genetics Service, Wessex clinical genetics service, Manchester University NHS Foundation Trust (MFT), West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Our Lady's hospital for Sick Children, Our Lady's Hospital for Sick Children, Guy's Hospital [London], University Hospitals Leicester, University of Edinburgh, Belfast City Hospital, Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Institute of Medical Genetics, Heath Park, Cardiff, The London Clinic, Nottingham City Hospital, Clinical Genetics Department, St Michael's Hospital, Department of Genetic Medicine, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust (NUH), Royal Devon and Exeter Foundation Trust, Histopathology, St. George's Hospital, Teesside Genetics Unit, James Cook University (JCU), Kansas State University, Liverpool Women's NHS Foundation Trust, Department of Medical Genetics, HMNC Brain Health, North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, Ninewells Hospital and Medical School [Dundee], Academic Centre on Rare Diseases (ACoRD), University College Dublin [Dublin] (UCD), Oxford Brookes University, Institute of medicinal plant development, Chinese Academy of Medical Sciences, Newcastle Upon Tyne Hospitals NHS Trust, Service d'explorations fonctionnelles respiratoires [Lille], Department of Computer Science - Trinity College Dublin, University of Dublin, Department of Clinical Genetics (Sheffield Children’s NHS Foundation Trust), Division of Medical & Molecular Genetics, NHS Greater Glasgow & Clyde [Glasgow] (NHSGGC), Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Weizmann Institute of Science [Rehovot, Israël], Southampton General Hospital, Western General Hospital, Head of the Department of Medical Genetics, University of Birmingham [Birmingham], SW Thames Regional Genetics Service, St Georgeâ™s University of London, London, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), All Wales Medical Genetics Services, Singleton Hospital, Central Manchester University Hospitals NHS Foundation Trust, University of North Texas (UNT), Clinical Genetics, Northern Genetics Service, Newcastle University [Newcastle], United Kingdom Met Office [Exeter], Institute of Medical Genetics (University Hospital of Wales), University Hospital of Wales (UHW), West Midlands Regional Genetics Laboratory and Clinical Genetics Unit, Birmingham Women's Hospital, Laboratory of Molecular Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Department of Genetics, Cell- and Immunobiology, Semmelweis University, University Hospitals Bristol, Marketing (MKT), EESC-GEM Grenoble Ecole de Management, Addenbrookes Hospital, West of Scotland Genetics Service (Queen Elizabeth University Hospital), University Hospital Birmingham Queen Elizabeth, Department of Clnical Genetics, Chapel Allerton Hospital, Department of Clinical Genetics, Northampton General Hospital, Northampton, Royal Devon and Exeter Hospital [Exeter, UK] (RDEH), Guy's and St Thomas' Hospital [London], School of Computer Science, Bangor University, University Hospital Southampton, Clinical Genetics Unit, St Georges, University of London, Medical Genetics, Cardiff University, Research and Development, Futurelab, Nottingham Regional Genetics Service [Nottingham, UK], Nottingham University Hospitals NHS Trust (NUH)-City Hospital Campus [Nottingham, UK], University of St Andrews [Scotland], Clinical Genetics Service, Nottingham University Hospitals NHS Trust - City Hospital Campus, West Midlands Regional Genetics Unit, Department of Neurology, Johns Hopkins University (JHU), Oxford University Hospitals NHS Trust, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Addenbrooke's Hospital, Cambridge University NHS Trust, Institute of Human Genetics, Newcastle, Division of Biological Stress Response [Amsterdam, The Netherlands], The Netherlands Cancer Institute [Amsterdam, The Netherlands], Johns Hopkins Bloomberg School of Public Health [Baltimore], Birmingham Women’s Hospital, Department of Genetics, Portuguese Oncology Institute, Molecular Genetics, IWK Health Centre, IWK health centre, North West london hospitals NHS Trust, Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow), Queen Elizabeth University Hospital (Glasgow), Birmingham women's hospital, Birmingham, Ethox Centre, Department of Public Health and Primary Health Care, University of Oxford, Badenoch Building, Old Road Campus, Headington, R01 HD091846, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, National Institutes of Health’s National Institute of Child Health and Human Development, Boston Children’s Hospital Faculty Development Fellowship, UM1HG008900, Broad Center for Mendelian Genomics, Chile’s National Commission for Scientific and Technological Research, DFG WE4896/3-1, German Research Society, WT 100127, Health Innovation Challenge Fund, Comprehensive Clinical Research Network, Skaggs-Oxford Scholarship, 10/H0305/83, Cambridge South REC, REC GEN/284/12, Republic of Ireland, WT098051, Wellcome Sanger Institute, 72160007, Comisión Nacional de Investigación Científica y Tecnológica, Children's Hospital of Philadelphia, Technische Universität Kaiserslautern, 1DH1813319, Dietmar Hopp Stiftung, National Institute for Health Research, Department of Health & Social Care, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Hôpital Saint Vincent de Paul-GHICL, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli Studi di Camerino (UNICAM), University of Oxford [Oxford], Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Nottingham University Hospitals NHS Trust, Nottingham University Hospitals, SW Thames Regional Genetics Service, St George’s University of London, London, University Hospital of Wales, Grenoble Ecole de Management, Royal Devon and Exeter Hospital, City Hospital Campus [Nottingham, UK]-Nottingham University Hospitals NHS Trust [UK], ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], GHICL-Hôpital Saint Vincent de Paul, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Friedrich-Alexander d'Erlangen-Nuremberg, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Bretagne Atlantique [Vannes], Technische Universität München [München] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], University of Zürich [Zürich] (UZH), Università di Camerino (UNICAM), Birmingham Women's Hospital Healthcare NHS Trust, University Hospitals of Leicester, Sheffield Children’s Hospital, Weizmann Institute of Science, Grenoble Ecole de Management (GEM)

المصدر: American Journal of Human Genetics, 104(6), 1210. Cell Press
American Journal of Human Genetics, 104, 6, pp. 1210-1222
American Journal of Human Genetics
American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
American journal of human genetics, 104(6), 1210-1222. Cell Press
American Journal of Human Genetics, 104, 1210-1222
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, ' Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222 . https://doi.org/10.1016/j.ajhg.2019.03.021Test

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, [SDV]Life Sciences [q-bio], Haploinsufficiency, autism, epilepsy, epileptic encephalopathy, global developmental delay, H3K4 methylation, intellectual disability, KMT2E, neurodevelopmental disorder, Adolescent, Adult, Child, Child, Preschool, DNA-Binding Proteins, Epilepsy, Female, Humans, Infant, Neurodevelopmental Disorders, Pedigree, Phenotype, Young Adult, Genetic Variation, Heterozygote, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Global developmental delay, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Hypotonia, 030220 oncology & carcinogenesis, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], 03 medical and health sciences, Report, medicine, Journal Article, Expressivity (genetics), Preschool, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Macrocephaly, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, business, 030217 neurology & neurosurgery

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e445ede8c834a46a17c2feb49693771Test
https://dspace.library.uu.nl/handle/1874/381706Test

المؤلفون: C Liao, Rebecca Muir, Iain G. Johnston, Carl Fratter, Joanna Poulton, Ryan L. Davis, Carolyn M. Sue, Janet Carver, Alex Hinks-Roberts, Heather Mortiboys, Karl J. Morten, David Hilton-Jones, Tiffany Lodge, Charlotte J. Green, Eszter Dombi, Alan Diot, Stefen Brady

المصدر: Pharmacological Research. 100:24-35

مصطلحات موضوعية: Adult, Mitochondrial DNA, Adolescent, Mutant, Mitochondrion, Biology, DNA, Mitochondrial, Young Adult, Mitophagy, Autophagy, medicine, Fluorescence microscope, Humans, Aged, Aged, 80 and over, Pharmacology, Middle Aged, Metformin, Heteroplasmy, Mitochondria, Microscopy, Fluorescence, Biochemistry, Biological Assay, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e17bc2aeeaf28d6b7d449fcc3070dbf5Test
https://doi.org/10.1016/j.phrs.2015.07.014Test

المؤلفون: Miguel A. Martín, Andrés Nascimento, D. Ram, Julio Montoya, Marcos Madruga-Garrido, Christoph Karch, Sandeep Jayawant, M Imelda Hughes, Patrick F. Chinnery, Maria Alice Donati, Joshua Kriger, Emanuele Barca, Yolanda Cámara, Michio Hirano, Robert W. Taylor, Robert Schoenaker, Pirjo Isohanni, Carlos Ortez, John L.P. Thompson, Carlos Lopez Gomez, Mariana Loos, Carl Fratter, Salvatore DiMauro, Karin Kleinsteuber, J. Domínguez-Carral, Monika Hofer, Anu Suomalainen, Jeffrey W. Ralph, Ewen W. Sommerville, Bruce Levin, Caterina Garone, Cristina Domínguez-González, Grainne S. Gorman, Robert McFarland, Julie Evans, Sonia Emperador, Yuelin Long, Adnan Y. Manzur, Shamima Rahman, Neil D Thomas, Joanna Poulton, Timothy Kerr, Anupam Chakrapani

المساهمون: Garone C., Taylor R.W., Nascimento A., Poulton J., Fratter C., Dominguez-Gonzalez C., Evans J.C., Loos M., Isohanni P., Suomalainen A., Ram D., Imelda Hughes M., McFarland R., Barca E., Gomez C.L., Jayawant S., Thomas N.D., Manzur A.Y., Kleinsteuber K., Martin M.A., Kerr T., Gorman G.S., Sommerville E.W., Chinnery P.F., Hofer M., Karch C., Ralph J., Camara Y., Madruga-Garrido M., Dominguez-Carral J., Ortez C., Emperador S., Montoya J., Chakrapani A., Kriger J.F., Schoenaker R., Levin B., Thompson J.L.P., Long Y., Rahman S., Donati M.A., Dimauro S., Hirano M., Doctoral Programme in Clinical Research, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Research Programme for Molecular Neurology, Children's Hospital, Clinicum, Lastenneurologian yksikkö, University of Helsinki, Doctoral Programme Brain & Mind, Neurologian yksikkö, Neuroscience Center, HUS Children and Adolescents, Lopez Gomez, Carlos [0000-0003-2699-451X], Martin, Miguel A [0000-0003-4741-772X], Apollo - University of Cambridge Repository

المصدر: JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Medical Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza

مصطلحات موضوعية: 0301 basic medicine, Oncology, metabolic disorder, Male, 0302 clinical medicine, Retrospective Studie, Medicine, Age of Onset, Child, Genetics (clinical), SPINAL MUSCULAR-ATROPHY, MYOPATHIC FORM, Facial weakness, metabolic disorders, MITOCHONDRIAL-DNA DEPLETION, Middle Aged, 3. Good health, Phenotypes, Phenotype, MTDNA DEPLETION, muscle disease, Child, Preschool, Female, Survival Analysi, medicine.symptom, clinical genetics, TK2 GENE, Natural history study, Human, Adult, medicine.medical_specialty, Weakness, Neuromuscular disease, Adolescent, Genes, Recessive, Genetic Association Studie, PATIENT, Thymidine Kinase, Ophthalmoparesis, Mitochondrial Proteins, 03 medical and health sciences, Young Adult, Muscular Diseases, neuromuscular disease, Internal medicine, Genetics, Humans, Mitochondrial Protein, Genetic Predisposition to Disease, Genetic Testing, Myopathy, Muscle, Skeletal, Genetic Association Studies, Retrospective Studies, Aged, SPECTRUM, MUTATIONS, business.industry, Muscular Disease, clinical genetic, Infant, Newborn, Infant, Spinal muscular atrophy, medicine.disease, Survival Analysis, DELETIONS, 030104 developmental biology, DEFECT, Mutation, 3111 Biomedicine, Age of onset, business, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c6d7c39882cd9497d308fe08728e9cdTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14101Test

المؤلفون: Jaidip S, Gill, Steven A, Hardy, Emma L, Blakely, Sila, Hopton, Andrea H, Nemeth, Carl, Fratter, Joanna, Poulton, Robert W, Taylor, Susan M, Downes

المصدر: The British Journal of Ophthalmology

مصطلحات موضوعية: Adult, Male, genetic structures, MTTKgene, mitochondrial eye disease, DNA Mutational Analysis, Optical Imaging, DNA, Mitochondrial, Thymidine Kinase, Mitochondrial DNA, Mitochondria, Muscle, Electron Transport Complex IV, Succinate Dehydrogenase, Electrooculography, Laboratory Science, Electroretinography, Humans, Point Mutation, RNA, Transfer, Lys, sense organs, Muscle, Skeletal, Usher Syndromes, mitochondrial DNA mutations, Photoreceptor Cells, Vertebrate

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8553eda52e8ad0e2c8fe332d9e440940Test
https://pubmed.ncbi.nlm.nih.gov/28729369Test

المؤلفون: Kirstie N. Anderson, A Compston, Joanna Poulton, John W. Yarham, Simon Hammans, Andrew Dean, John H. Xuereb, Peter Enevoldson, Chris Allen, Saba Sharif, Charlotte Brierley, Robert McFarland, Douglass M. Turnbull, Robert W. Taylor, Soo-Mi Park, Kate Craig, Emma L. Blakely, Martin Wilson, Charlotte L. Alston

المصدر: Human Mutation

مصطلحات موضوعية: Adult, Male, Mitochondrial encephalomyopathy, Proband, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, RNA, Mitochondrial, Mitochondrial disease, Biology, MELAS syndrome, medicine.disease_cause, DNA, Mitochondrial, Young Adult, 03 medical and health sciences, 0302 clinical medicine, RNA, Transfer, Mitochondrial Encephalomyopathies, Genetic variation, MELAS Syndrome, Genetics, medicine, Humans, Point Mutation, Child, Research Articles, Genetics (clinical), mitochondrial tRNA, 030304 developmental biology, 0303 health sciences, Mutation, Point mutation, Genetic Variation, Sequence Analysis, DNA, Middle Aged, medicine.disease, segregation, Mitochondria, 3. Good health, mitochondrial disease, single-fiber studies, RNA, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e787fc0eececdb48baf1d344c36b7fc9Test
https://doi.org/10.1002/humu.22358Test

المؤلفون: J.J. Pointon, Véronique David, Alison T. Merryweather-Clarke, M L Bassett, Jacques Rochette, K. J. H. Robson, Mark Worwood, Joanna Poulton, A Mosser, Estelle Cadet, V L C Wimhurst, K J Livesey, Andrew G. Roberts, Kymberley Carter, A-M Jouanolle

المصدر: Journal of Medical Genetics. 41:6-10

مصطلحات موضوعية: Adult, Mitochondrial DNA, medicine.medical_specialty, Iron Overload, Genotype, Population, Cardiomyopathy, Biology, DNA, Mitochondrial, Asymptomatic, Cohort Studies, Gene Frequency, Internal medicine, Diabetes mellitus, Genetics, medicine, Genetic predisposition, Humans, Cysteine, Allele, Hemochromatosis Protein, education, Genetics (clinical), Hemochromatosis, Aged, Aged, 80 and over, education.field_of_study, Histocompatibility Antigens Class I, Homozygote, Membrane Proteins, Middle Aged, medicine.disease, Diabetes Mellitus, Type 1, Phenotype, Endocrinology, Amino Acid Substitution, Diabetes Mellitus, Type 2, Mutation, Tyrosine, Original Article, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::017bd96c25fdc5a16414d9c47ffebbaeTest
https://doi.org/10.1136/jmg.2003.008805Test

المؤلفون: Stephanie Grunewald, Cathy E. Woodward, Lara Abulhoul, Peter E. Clayton, Shamima Rahman, Michael G. Hanna, Joanna Poulton, James V. Leonard, Mary G. Sweeney, Carl Fratter, Alexander Broomfield, Andrew M. M. Morris

المصدر: Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Kearns-Sayre Syndrome, Disease, Kaplan-Meier Estimate, DNA, Mitochondrial, Lipid Metabolism, Inborn Errors, Kearns–Sayre syndrome, Cohort Studies, Young Adult, Muscular Diseases, Genetics, Medicine, Blepharoptosis, Congenital Bone Marrow Failure Syndromes, Humans, Genetics(clinical), Child, Muscle, Skeletal, Genetics (clinical), Sequence Deletion, business.industry, Acyl-CoA Dehydrogenase, Long-Chain, Infant, Newborn, Infant, medicine.disease, Infant newborn, Human genetics, Natural history, Child, Preschool, Cohort, Female, Original Article, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::987c4ad642cc27dc95d35a01fdbf0b9dTest
https://pubmed.ncbi.nlm.nih.gov/25352051Test