Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sarkozy, Anna"'
Autor:
Doherty CM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Howard P; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., O'Donnell LF; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Zuccarino R; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Fondazione Serena Onlus, Centro Clinico NeMO Trento, Italy., Wastling S; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Milev E; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK., Banks T; Department of Radiology, Great Ormond Street Hospital, London, UK., Shah S; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Zafeiropoulos N; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Stephens KJ; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Sarkozy A; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK., Grider T; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Feely SME; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA., Manzur A; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK., Shy RR; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Skorupinska M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Pipis M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Nicolaisen E; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., McDowell A; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Dilek N; University of Rochester School of Medicine and Dentistry, New York, NY, USA., Rossor AM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Laura M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Clark C; Department of Radiology, Great Ormond Street Hospital, London, UK., Muntoni F; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK., Thedens D; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Thornton J; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Morrow JM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Shy ME; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Reilly MM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Publikováno v:
Annals of neurology [Ann Neurol] 2024 Jul; Vol. 96 (1), pp. 170-174. Date of Electronic Publication: 2024 Apr 13.
Autor:
Zambon AA; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Neurology Department, IRCCS San Raffaele Scientific Institute, Milan, Italy., Ridout D; Department of Population, Policy and Practice, UCL Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK., Main M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Mein R; Genetics Department, Guy's Hospital, London, UK., Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Oct; Vol. 7 (10), pp. 1870-1882. Date of Electronic Publication: 2020 Sep 10.
Autor:
Ullmann U; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; Genetics Department, Institut de Génétique et Pathologie, Gosselies, Belgium., D'Argenzio L; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom., Mathur S; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom., Whyte T; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom., Quinlivan R; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom., Longman C; West of Scotland Regional Genetic Service, Queen Elizabeth University Hospital, Glasgow, United Kingdom., Farrugia ME; Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, United Kingdom., Manzur A; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom., Willis T; Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom., Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom; Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, United Kingdom; Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College London, London, United Kingdom., Pitt M; Department of Clinical Neurophysiology, Great Ormond Street Hospital, London, United Kingdom., Cirak S; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; Department of Pediatrics, University Hospital Cologne, and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Feng L; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom., Stewart W; Laboratory Medicine, Queen Elizabeth University Hospital and Institute of Neuroscience and Psychology, University of Glasgow, Glasgow, United Kingdom., Mein R; Genetics Department, Molecular Genetics Laboratory Viapath, Guy's Hospital, London, United Kingdom., Phadke R; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom., Sewry C; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom., Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Electronic address: f.muntoni@ucl.ac.uk.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2018 Sep; Vol. 28 (9), pp. 741-749. Date of Electronic Publication: 2018 Jun 30.
Autor:
Limongelli G; aMonaldi Hospital, Second University of Naples, Naples, Italy bInstitute of Cardiovascular Science, University College London and The Heart Hospital, University College London Hospitals Trust, London cInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK., D'Alessandro R, Maddaloni V, Rea A, Sarkozy A, McKenna WJ
Publikováno v:
Journal of cardiovascular medicine (Hagerstown, Md.) [J Cardiovasc Med (Hagerstown)] 2013 Dec; Vol. 14 (12), pp. 837-61.
Autor:
Sarkozy A; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK., Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2012 Oct 01; Vol. 22 Suppl 2, pp. S122-9.
Autor:
Sarkozy A; Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Lochmüller H
Publikováno v:
Journal of neurology [J Neurol] 2010 Dec; Vol. 257 (12), pp. 2117-21. Date of Electronic Publication: 2010 Sep 18.
Autor:
Chaouch, Amina, Brennan, Kathryn M, Hudson, Judith, Longman, Cheryl, McConville, Jon, Morrisson, Patrick J, Farrugia, Maria E, Petty, Richard, Stewart, Willie, Norwood, Fiona, Horvath, Rita, Chinnery, Patrick F, Costigan, Donald, Winer, John, Polvikoski, Tuomo, Healey, Estelle, Sarkozy, Anna, Guglieri, Michela, Evangelista, Teresinha, Pogoryelova, Oksana, Eagle, Michelle, Bushby, Kate, Straub, Volker, Lochmüller, Hanns
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 85:1359-1365
Objective GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing. Most of the current information on GNE myopathy has been