Mov Disord 2020 08 30;35(8):1357-1368. Epub 2020 May 30.
Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Med Biol Eng Comput 2020 May 24;58(5):943-965. Epub 2020 Feb 24.
Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK.
Ann Neurol 2019 08 1;86(2):310-315. Epub 2019 Jul 1.
Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
Brain 2019 06;142(6):1547-1560
Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Med Biol Eng Comput 2019 May 26;57(5):1079-1097. Epub 2018 Dec 26.
University of Central Lancashire, Preston, UK.
Arch Dis Child 2018 05 18;103(5):523. Epub 2018 Jan 18.
Department of Clinical Biochemistry, Royal Blackburn Hospital, Blackburn, UK.
Dev Med Child Neurol 2018 03 14;60(3):275-282. Epub 2017 Dec 14.
Department of Psychology, Lancaster University, Lancaster, UK.
Arch Dis Child Educ Pract Ed 2017 Dec 27;102(6):319-327. Epub 2017 Jul 27.
Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK.
Neuropediatrics 2017 Jun 10;48(3):166-184. Epub 2017 Apr 10.
Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
Am J Hum Genet 2017 Mar 9;100(3):523-536. Epub 2017 Feb 9.
Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany. Electronic address:
Neurol Genet 2016 Jun 24;2(3):e76. Epub 2016 May 24.
Department of Molecular Neuroscience (R.J.G., J.B.), Institute of Neurology; MRC Laboratory for Molecular Cell Biology (R.B., S.E.M.), University College London; Manchester Centre for Genomic Medicine (D.D.), University of Manchester and Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust; Royal Preston Hospital (C.d.G.), Genetics and Genomics Medicine Programme (S.E.M.), UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, UK.
Eur J Paediatr Neurol 2016 Mar 18;20(2):286-295. Epub 2015 Dec 18.
Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK. Electronic address:
Pediatr Neurol 2016 Jan 6;54:49-54. Epub 2015 Nov 6.
Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.
Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.
From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.
INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Mol Genet Metab 2014 Dec 5;113(4):301-6. Epub 2014 Oct 5.
Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.
Cochrane Database Syst Rev 2014 Sep 5(9):CD006779. Epub 2014 Sep 5.
Department of Paediatric Neurology, Royal Manchester Children's Hospital, Hathersage Road, Manchester, Lancashire, UK, M3 9WL.
J Med Genet 2014 Feb 21;51(2):76-82. Epub 2013 Nov 21.
Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.
Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.
Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
Brain 2013 Dec 30;136(Pt 12):3634-44. Epub 2013 Oct 30.
1 Institute of Human Genetics, Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen University, 52074 Aachen, Germany.