Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Poole OV"'
Autor:
Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, IP, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, J-W, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K, Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG, Pitceathly, RD
Publikováno v:
Neurology: Genetics
Objective Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA (mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to determine the prevalence of RNase H1 gene (RNASEH1) mutations among patients with mitoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::13b81499405365a08332634cbd3fa95d
http://europepmc.org/articles/PMC5413961
http://europepmc.org/articles/PMC5413961
Autor:
Poole OV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Woodward CE; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK., Labrum R; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Amato AA; Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Gregory A; Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health and Science University, Portland, OR., Hayflick SJ; Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health and Science University, Portland, OR., Jonvik H; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Wood N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Pittman A; Genetics Research Centre, St. George's, University of London, London, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Publikováno v:
Annals of neurology [Ann Neurol] 2021 Jun; Vol. 89 (6), pp. 1240-1247. Date of Electronic Publication: 2021 Apr 01.
Autor:
Colasanti A; Department of Neuroscience, Brighton and Sussex Medical School, Sussex University, Brighton, United Kingdom.; Centre for Affective Disorders, Division of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Bugiardini E; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Amawi S; Centre for Affective Disorders, Division of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Poole OV; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Skorupinska I; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Skorupinska M; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Germain L; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Kozyra D; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Holmes S; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., James N; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Woodward CE; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Quinlivan R; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom.; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, United Kingdom., Young AH; Centre for Affective Disorders, Division of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Hanna MG; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Pitceathly RDS; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom r.pitceathly@ucl.ac.uk.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2020 Aug; Vol. 91 (8), pp. 892-894. Date of Electronic Publication: 2020 Jun 11.
Autor:
Poole OV; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Horga A; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Hardy SA; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Bugiardini E; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Woodward CE; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Hargreaves IP; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Merve A; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Quinlivan R; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Taylor RW; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Hanna MG; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Pitceathly RDS; Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2020 Mar 18; Vol. 6 (2), pp. e413. Date of Electronic Publication: 2020 Mar 18 (Print Publication: 2020).
Autor:
Bugiardini E; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Bottani E; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Marchet S; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Poole OV; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Beninca C; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Horga A; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Woodward C; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Lam A; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Hargreaves I; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Chalasani A; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Valerio A; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Lamantea E; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Venner K; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Holton JL; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Zeviani M; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Houlden H; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Quinlivan R; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Lamperti C; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Hanna MG; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom., Pitceathly RDS; Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, 'C. Besta,' Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2020 Jan 07; Vol. 6 (1), pp. e381. Date of Electronic Publication: 2020 Jan 07 (Print Publication: 2020).
Autor:
Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Mitchell AL; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK., Rosa ID; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK., Horning-Do HT; Center for Physiology and Pathophysiology, Institute of Vegetative Physiology, Medical Faculty, University of Köln, 50931 Köln, Germany., Pitmann AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Poole OV; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Holton JL; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK., Shah S; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK., Woodward C; Neurogenetic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK., Hargreaves I; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK., Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK., Amunts A; Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, 17165 Solna, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden., Wiesner RJ; Center for Physiology and Pathophysiology, Institute of Vegetative Physiology, Medical Faculty, University of Köln, 50931 Köln, Germany., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Holt IJ; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK.; Biodonostia Health Research Institute, 20014 San Sebastián, Spain.; IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain.; CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), Madrid, Spain., Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Pitceathly RDS; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Spinazzola A; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2019 Aug 15; Vol. 28 (16), pp. 2711-2719.
Autor:
Poole OV; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Uchiyama T; Department of Uro-Neurology, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.; Department of Neurology, School of Medicine, International University of Health and Welfare, Chiba, Japan.; Department of Neurology, School of Medicine, International University of Health and Welfare Ichikawa Hospital, Chiba, Japan., Skorupinska I; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Skorupinska M; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Germain L; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Kozyra D; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Holmes S; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., James N; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Woodward C; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK., Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK., Emmanuel A; Gastro-Intestinal Physiology Unit, University College London Hospital, London, UK., Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Panicker JN; Department of Uro-Neurology, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Pitceathly RDS; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Publikováno v:
European journal of neurology [Eur J Neurol] 2019 Aug; Vol. 26 (8), pp. 1111-1120. Date of Electronic Publication: 2019 Apr 30.
Autor:
Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pope S; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria., Poole OV; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pittman AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Woodward CE; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Heales S; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK., Houlden H; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria., Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pitceathly RDS; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK. r.pitceathly@ucl.ac.uk.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. r.pitceathly@ucl.ac.uk.
Publikováno v:
Journal of clinical medicine [J Clin Med] 2019 Jul 08; Vol. 8 (7). Date of Electronic Publication: 2019 Jul 08.
Autor:
Poole OV; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Everett CM; Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Neurology, The Royal London Hospital, Barts Health NHS Trust, London, UK., Gandhi S; Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Marino S; Cellular Pathology, The Royal London Hospital, Barts Health NHS Trust, London, UK; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Woodward C; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK., Lam A; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK; Department of Chemical Pathology, Great Ormond Street Hospital, London, UK., Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK., Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Pitceathly RDS; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: r.pitceathly@ucl.ac.uk.
Publikováno v:
Mitochondrion [Mitochondrion] 2019 Jul; Vol. 47, pp. 294-297. Date of Electronic Publication: 2019 Feb 08.
Autor:
Holmes S; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK., Male AJ; Therapy Services, National Hospital for Neurology and Neurosurgery, London, UK., Ramdharry G; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK., Woodward C; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK., James N; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK., Skorupinska I; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK., Skorupinska M; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK., Germain L; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK., Kozyra D; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Bugiardini E; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Poole OV; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Quinlivan R; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK., Hanna MG; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kaski D; Department of Neuro-Otology, University College London Hospitals, London, UK., Pitceathly RDS; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK r.pitceathly@ucl.ac.uk.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2019 Jul; Vol. 90 (7), pp. 838-841. Date of Electronic Publication: 2018 Nov 26.