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Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index

Journal Article published 24 Jan 2018 in Lung volume 196 issue 2 on pages 231 to 238

Research funded by National Institute for Health Research | Bayer | Action Medical Research | Newlife – The Charity for Disabled Children | Great Ormond Street Hospital Charity

Authors: S. Irving, M. Dixon, M. R. Fassad, E. Frost, J. Hayward, K. Kilpin, S. Ollosson, A. Onoufriadis, M. P. Patel, J. Scully, S. B. Carr, H. M. Mitchison, M. R. Loebinger, C. Hogg, A. Shoemark, A. Bush

Author response to van Zuurenet al., Penicillin to prevent recurrent cellulitis: a critical appraisal

Journal Article published Dec 2014 in British Journal of Dermatology volume 171 issue 6 on pages 1303 to 1304

Research funded by Action Medical Research

Authors: K.S. Thomas, the PATCH I trial team

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C

Journal Article published 4 Apr 2018 in Wellcome Open Research volume 2 on page 76

Research funded by Wellcome Trust (202834) | Niemann-Pick Research Foundation | Parkinson’s Disease UK | Royal Society | Action Medical Research

Authors: Elena-Raluca Nicoli, Mylene Huebecker, David Smith, Lauren Morris, Frances M. Platt

Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a ‘Rosetta Stone’ study

Journal Article published 30 Nov 2015 in Developmental Medicine & Child Neurology volume 58 issue 2 on pages 145 to 153

Research funded by Dystonia Society UK (09.2013, 01/2011, 09/2013) | University of Warwick | Studienstiftung des Deutschen Volkes | National Institute for Health Research | National Institute on Handicapped Research (CDRF-2013-04-039) | Action Medical Research (GN2097) | Guy's and St Thomas Charity New Services and Innovation Grant (G060708)

Authors: Markus C Elze, Hortensia Gimeno, Kylee Tustin, Lesley Baker, Daniel E Lumsden, Jane L Hutton, Jean-Pierre S-M Lin

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

Journal Article published Dec 2018 in The American Journal of Human Genetics volume 103 issue 6 on pages 1045 to 1052

Research funded by Action Medical Research | Higher Education Commission, Pakistan | Berlin Family Foundation New Scientist Fund | Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (99999.013311/2013-01) | European Research Council (714023) | Israel Science Foundation (543165) | EU FP7 Large-Scale Integrating Project Genetic and Epigenetic Networks in Cognitive Dysfunction (241995) | NIHR Biomedical Research Centre, UK | David and Fela Shapell Family Foundation INCPM Fund for Preclinical Studies | Medical Research Council (MC_UU_00015/4) | University of Maryland | Deutsche Forschungsgemeinschaft (AB393/2-2, RO4681/9-1) | The Abramson Family Center for Young Scientists | Estate of David Turner | DIP (RO4681/6-1)

Authors: Arjan P.M. de Brouwer, Rami Abou Jamra, Nadine Körtel, Clara Soyris, Daniel L. Polla, Modi Safra, Avia Zisso, Christopher A. Powell, Pedro Rebelo-Guiomar, Nadja Dinges, Violeta Morin, Michael Stock, Mureed Hussain, Mohsin Shahzad, Saima Riazuddin, Zubair M. Ahmed, Rolph Pfundt, Franziska Schwarz, Lonneke de Boer, André Reis, Detilina Grozeva, F. Lucy Raymond, Sheikh Riazuddin, David A. Koolen, Michal Minczuk, Jean-Yves Roignant, Hans van Bokhoven, Schraga Schwartz

Impaired forward model updating in young adults with Tourette syndrome

Journal Article published 17 Dec 2018 in Brain volume 142 issue 1 on pages 209 to 219

Research funded by Action Medical Research | Great Ormond Street Hospital Children’s Charity (GN2398) | National Institute on Handicapped Research | Nottingham Biomedical Research Centre | NHS | Department of Health & Social Care

Authors: Soyoung Kim, Georgina M Jackson, Katherine Dyke, Stephen R Jackson

Reconstructing Time-Dependent Dynamics

Journal Article published Feb 2016 in Proceedings of the IEEE volume 104 issue 2 on pages 223 to 241

Research funded by Engineering and Physical Sciences Research Council (EP/100999X1) | EU-NEST BRACCIA (517133) | Action Medical Research | Javna Agencija za Raziskovalno Dejavnost RS (P20232)

Authors: Philip Clemson, Gemma Lancaster, Aneta Stefanovska

Environmental peanut exposure increases the risk of peanut sensitization in high-risk children

Journal Article published 23 Mar 2018 in Clinical & Experimental Allergy volume 48 issue 5 on pages 586 to 593

Research funded by Action Medical Research (S/P/4529) | National Institute for Health Research | Guy's and St Thomas' NHS Foundation Trust | Svenska Forskningsrådet Formas | Forskningsrådet om Hälsa, Arbetsliv och Välfärd | Swedish Asthma and Allergy Foundation | Swedish Heart and Lung Foundation | Gillbergska stiftelsen

Authors: H. A. Brough, I. Kull, K. Richards, E. Hallner, C. Söderhäll, A. Douiri, M. Penagos, E. Melén, A. Bergström, V. Turcanu, M. Wickman, G. Lack

Development and psychometric evaluation of the ICIQ-LTCqol: A self-report quality of life questionnaire for long-term indwelling catheter users

Journal Article published 8 Feb 2015 in Neurourology and Urodynamics volume 35 issue 3 on pages 423 to 428

Research funded by Action Medical Research

Authors: Nikki Cotterill, Sarah Fowler, Miriam Avery, Alan M. Cottenden, Mary Wilde, Adele Long, Mandy J. Fader

ADEPT - Abnormal Doppler Enteral Prescription Trial

Dataset published 5 Dec 2012 in http://isrctn.org/>

Research funded by Action Medical Research

Authors: Alison Leaf

A comparison of patient warming versus prophylactic antibiotics on the reduction of wound infection after breast surgery

Dataset published 5 Dec 2012 in http://isrctn.org/>

Research funded by Action Medical Research

Authors: David Leaper

Transtibial prosthetic system design and benefits for the amputee, service providers and society: an evidence based clinical study

Dataset published 5 Dec 2012 in http://isrctn.org/>

Research funded by Action Medical Research

Authors: Brendan McHugh

Neurofeedback in children with attention deficit hyperactivity disorder (ADHD)

Dataset published 6 Dec 2012 in http://isrctn.org/>

Research funded by Action Medical Research

Authors: Katya Rubia

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C

Journal Article published 31 Aug 2017 in Wellcome Open Research volume 2 on page 76

Research funded by Wellcome Trust (202834) | Action Medical Research | Royal Society | Niemann-Pick Research Foundation

Authors: Elena-Raluca Nicoli, David Smith, Lauren Morris, Frances M. Platt

Steroid receptor co-activator interacting protein (SIP) mediates EGF-stimulated expression of the prostaglandin synthase COX2 and prostaglandin release in human myometrium

Journal Article published 8 May 2016 in Molecular Human Reproduction volume 22 issue 7 on pages 512 to 525

Research funded by Action Medical Research (SP4612)

Authors: Claire A. Hudson, Craig A. McArdle, Andrés López Bernal

What parents think and feel about deep brain stimulation in paediatric secondary dystonia including cerebral palsy: A qualitative study of parental decision-making

Journal Article published Jan 2017 in European Journal of Paediatric Neurology volume 21 issue 1 on pages 185 to 192

Research funded by Guy's and St Thomas' Charity (G060708) | The Dystonia Society UK (01/2011, 07/2013) | Action Medical Research (GN2907)

Authors: Allana Austin, Jean-Pierre Lin, Richard Selway, Keyoumars Ashkan, Tamsin Owen

Interictal activity is an important contributor to abnormal intrinsic network connectivity in paediatric focal epilepsy

Journal Article published 20 Aug 2016 in Human Brain Mapping volume 38 issue 1 on pages 221 to 236

Research funded by Action Medical Research (SP4646) | University College London IMPACT | James Lewis Foundation (via Great Ormond Street Hospital Children's Charity) | University College London Overseas Research Scholarship | Child Health Research Appeal Trust | National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health and Dementia Unit | Great Ormond Street Hospital/University College London Institute of Child Health | UK Department of Health's NIHR Biomedical Research Centres

Authors: Elhum A. Shamshiri, Tim M. Tierney, Maria Centeno, Kelly St Pier, Ronit M. Pressler, David J Sharp, Suejen Perani, J Helen Cross, David W. Carmichael

Comparison of the Utility and Validity of Three Scoring Tools to Measure Skin Involvement in Patients With Juvenile Dermatomyositis

Journal Article published 16 Sep 2016 in Arthritis Care & Research volume 68 issue 10 on pages 1514 to 1521

Research funded by Great Ormond Street Children's Charity (SC36B) | Henry Smith Charity (V1268) | Arthritis Research UK (14518, 20164) | The Myositis Support Group UK | Wellcome Trust Intermediate Clinical Fellowship (097259) | Action Medical Research (SP4252) | National Institute for Health Research Translational Research Collaborative grant | Wellcome Trust (085860) | Great Ormond Street Biomedical Research Centre

Authors: Raquel Campanilho-Marques, Beverley Almeida, Claire Deakin, Katie Arnold, Natacha Gallot, Maria de Iorio, Kiran Nistala, Clarissa A. Pilkington, Lucy R. Wedderburn, on behalf of the Juvenile Dermatomyositis Research Group

Histopathology and molecular characterisation of intrauterine-diagnosed congenital craniopharyngioma

Journal Article published 9 Sep 2015 in Pituitary volume 19 issue 1 on pages 50 to 56

Research funded by Action Medical Research (N2272) | Barts and The London School of Medicine and Dentistry (417/2081, 417/2238)

Authors: Valeria Scagliotti, Laura Avagliano, Angelica Gualtieri, Federica Graziola, Patrizia Doi, Jane Chalker, Andrea Righini, Marta Korbonits, Gaetano Bulfamante, Thomas S. Jacques, Valentina Massa, Carles Gaston-Massuet

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

Journal Article published 22 Sep 2015 in Human Molecular Genetics volume 24 issue 23 on pages 6565 to 6579

Research funded by National Institute for Health Research (NIHR-BRF-2011-015) | Action Medical Research (1967) | NIHR Manchester Biomedical Research Centre | American-Italian Cancer Foundation postdoctoral research fellowship

Authors: Louise F. Porter, Giorgio G. Galli, Sally Williamson, Julian Selley, David Knight, Nursel Elcioglu, Ali Aydin, Mustafa Elcioglu, Hanka Venselaar, Anders H. Lund, Richard Bonshek, Graeme C. Black, Forbes D. Manson