Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Holthaus SM"'
Autor:
Wright, Genevieve A., Georgiou, Michalis, Robson, Anthony G., Ali, Naser, Kalhoro, Ambreen, Holthaus, SM Kleine, Pontikos, Nikolas, Oluonye, Ngozi, de Carvalho, Emanuel R., Neveu, Magella M., Weleber, Richard G., Michaelides, Michel
Publikováno v:
Ophthalmology Retina; April 2020, Vol. 4 Issue: 4 p433-445, 13p
Autor:
Liu W; UCL School of Pharmacy, University College London, UK., Kleine-Holthaus SM; UCL Institute of Ophthalmology, University College London, UK., Herranz-Martin S; UCL School of Pharmacy, University College London, UK; Centro de Biología Molecular Severo Ochoa (UAM-CSIC) and Departamento de Biología Molecular,Universidad Autónoma de Madrid (UAM), Madrid, Spain., Aristorena M; UCL Institute of Ophthalmology, University College London, UK., Mole SE; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK; UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK., Smith AJ; UCL Institute of Ophthalmology, University College London, UK., Ali RR; UCL Institute of Ophthalmology, University College London, UK; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust, UK., Rahim AA; UCL School of Pharmacy, University College London, UK. Electronic address: a.rahim@ucl.ac.uk.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2020 Sep 01; Vol. 1866 (9), pp. 165772. Date of Electronic Publication: 2020 Mar 24.
Autor:
Kleine Holthaus SM; Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom., Aristorena M; Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom., Maswood R; Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom., Semenyuk O; Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom., Hoke J; Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom., Hare A; Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom., Smith AJ; Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom., Mole SE; MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom.; UCL Institute of Child Health, London, United Kingdom.; UCL Department of Genetics, Evolution and Environment, University College London, London, United Kingdom., Ali RR; Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom.; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Publikováno v:
Human gene therapy [Hum Gene Ther] 2020 Jul; Vol. 31 (13-14), pp. 709-718.
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.
Autor:
Kleine Holthaus SM; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Herranz-Martin S; Department of Pharmacology, UCL School of Pharmacy, 29-39 Brunswick Square, Bloomsbury, London WC1N 1AX, UK.; Centro de Biología Molecular Severo Ochoa (UAM-CSIC) and Departamento de Biología Molecular, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Massaro G; Department of Pharmacology, UCL School of Pharmacy, 29-39 Brunswick Square, Bloomsbury, London WC1N 1AX, UK., Aristorena M; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Hoke J; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Hughes MP; Department of Pharmacology, UCL School of Pharmacy, 29-39 Brunswick Square, Bloomsbury, London WC1N 1AX, UK., Maswood R; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Semenyuk O; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Basche M; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Shah AZ; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Klaska IP; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Smith AJ; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Mole SE; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK.; UCL Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.; UCL Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, UK., Rahim AA; Department of Pharmacology, UCL School of Pharmacy, 29-39 Brunswick Square, Bloomsbury, London WC1N 1AX, UK., Ali RR; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2019 Dec 01; Vol. 28 (23), pp. 3867-3879.
Autor:
Mole SE; Medical Research Council Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health, University College London, London, UK. Electronic address: s.mole@ucl.ac.uk., Anderson G; Department of Histopathology, Great Ormond Street Hospital, London, UK., Band HA; Batten Disease Family Association, Farnborough, UK., Berkovic SF; Epilepsy Research Centre, Department of Medicine, Austin Health & Northern Health, University of Melbourne, Melbourne, VIC, Australia., Cooper JD; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA., Kleine Holthaus SM; UCL Institute of Ophthalmology, University College London, London, UK., McKay TR; Centre for Bioscience, Manchester Metropolitan University, Manchester, UK., Medina DL; Telethon Institute of Genetics and Medicine, Naples, Italy., Rahim AA; UCL School of Pharmacy, University College London, London, UK., Schulz A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Smith AJ; UCL Institute of Ophthalmology, University College London, London, UK.
Publikováno v:
The Lancet. Neurology [Lancet Neurol] 2019 Jan; Vol. 18 (1), pp. 107-116. Date of Electronic Publication: 2018 Nov 21.
Autor:
Gonzalez-Cordero A; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Goh D; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Kruczek K; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Naeem A; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Fernando M; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Kleine Holthaus SM; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom .; 2 MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom, United Kingdom ., Takaaki M; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Blackford SJI; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Kloc M; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Agundez L; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Sampson RD; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Borooah S; 3 Centre for Clinical Brain Sciences, University of Edinburgh , Edinburgh, United Kingdom ., Ovando-Roche P; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Mehat MS; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., West EL; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Smith AJ; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Pearson RA; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom ., Ali RR; 1 Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, United Kingdom .
Publikováno v:
Human gene therapy [Hum Gene Ther] 2018 Oct; Vol. 29 (10), pp. 1124-1139. Date of Electronic Publication: 2018 May 14.
Autor:
Kleine Holthaus SM; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK., Ribeiro J; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Abelleira-Hervas L; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Pearson RA; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Duran Y; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Georgiadis A; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Sampson RD; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Rizzi M; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Hoke J; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Maswood R; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Azam S; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Luhmann UFO; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Smith AJ; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Mole SE; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK; UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; UCL Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: s.mole@ucl.ac.uk., Ali RR; Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, City Road, London EC1V 2PD, UK. Electronic address: r.ali@ucl.ac.uk.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2018 May 02; Vol. 26 (5), pp. 1343-1353. Date of Electronic Publication: 2018 Mar 02.
Autor:
Kleine Holthaus SM; UCL Institute of Ophthalmology, Department of Genetics & NIHR BRC at Moorfields Eye Hospital, London, UK. s.kleine.holthaus.11@ucl.ac.uk.; MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, Department of Genetics, Evolution and Environment, University College London, London, UK. s.kleine.holthaus.11@ucl.ac.uk., Smith AJ; UCL Institute of Ophthalmology, Department of Genetics & NIHR BRC at Moorfields Eye Hospital, London, UK., Mole SE; MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, Department of Genetics, Evolution and Environment, University College London, London, UK., Ali RR; UCL Institute of Ophthalmology, Department of Genetics & NIHR BRC at Moorfields Eye Hospital, London, UK.
Publikováno v:
Advances in experimental medicine and biology [Adv Exp Med Biol] 2018; Vol. 1074, pp. 91-99.
Autor:
Chu CJ; School of Clinical Sciences, University of Bristol, Bristol BS8 1TD, UK colin.chu@bristol.ac.uk a.dick@bristol.ac.uk., Gardner PJ; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Copland DA; School of Clinical Sciences, University of Bristol, Bristol BS8 1TD, UK., Liyanage SE; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Gonzalez-Cordero A; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Kleine Holthaus SM; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Luhmann UF; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK Roche Pharmaceutical Research and Early Development, Ophthalmology Discovery & Biomarkers, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, Basel 4070, Switzerland., Smith AJ; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Ali RR; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London EC1V 9EL, UK., Dick AD; School of Clinical Sciences, University of Bristol, Bristol BS8 1TD, UK UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London EC1V 9EL, UK colin.chu@bristol.ac.uk a.dick@bristol.ac.uk.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2016 Apr; Vol. 9 (4), pp. 473-81. Date of Electronic Publication: 2016 Jan 21.
Autor:
Cismondi IA; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: ines.adriana.cismondi@unc.edu.ar., Kohan R; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: kohanromina@gmail.com., Adams H; Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. Electronic address: heather_adams@urmc.rochester.edu., Bond M; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: michael.bond@ucl.ac.uk., Brown R; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: rachel.brown.10@ucl.ac.uk., Cooper JD; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology & Neuroscience, James Black Centre, 125 Coldharbour Lane, London SE5 9NU, UK. Electronic address: jon.cooper@kcl.ac.uk., de Hidalgo PK; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: perlakdehidalgo@gmail.com., Holthaus SM; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK; Department of Genetics, UCL Institute of Ophthalmology, London EC1V 9EL, UK. Electronic address: s.kleine.holthaus.11@ucl.ac.uk., Mole SE; MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: s.mole@ucl.ac.uk., Mugnaini J; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: juliamugnaini@gmail.com., de Ramirez AM; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: ramirezoller@gmail.com., Pesaola F; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Av. Rivadavia 1917, C1033AAJ CABA, Argentina. Electronic address: favio.pesaola@gmail.com., Rautenberg G; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: gisela.rautenberg@gmail.com., Platt FM; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK. Electronic address: frances.platt@pharm.ox.ac.uk., Noher de Halac I; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Av. Rivadavia 1917, C1033AAJ CABA, Argentina. Electronic address: rhalac@arnet.com.ar.
Publikováno v:
Biochimica et biophysica acta [Biochim Biophys Acta] 2015 Oct; Vol. 1852 (10 Pt B), pp. 2316-23. Date of Electronic Publication: 2015 Jun 24.