Zobrazeno 1 - 10
of 625
pro vyhledávání: '"Nemeth Ah"'
Autor:
Vezyroglou, A, Akilapa, R, Barwick, K, Koene, S, Brownstein, CA, Holder-Espinasse, M, Fry, AE, Nemeth, AH, Tofaris, GK, Hay, E, Hughes, I, Mansour, S, Mordekar, SR, Splitt, M, Turnpenny, PD, Demetriou, D, Koopmann, TT, Ruivenkamp, CAL, Agrawal, PB, Carr, L, Clowes, V, Ghali, N, Holder, SE, Radley, J, Male, A, Sisodiya, SM, Kurian, MA, Cross, JH, Balasubramanian, M
Background and Objectives ATP1A3 is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating hemiplegia of childhood, rapid-onset dystonia parkinsonism, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::996ef6e7e37fd1fd72b27e880a1c15b0
Autor:
Evangelisti S; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Boessenkool S; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK., Pflanz CP; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK.; Stroke Research Group, Department of Clinical Neuroscience, University of Cambridge, CB2 0QQ Cambridge, UK., Basting R; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK.; Department of Experimental Psychology, University of Oxford, OX2 6GG Oxford, UK., Betts JF; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK., Jenkinson M; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK.; School of Computer Science, Faculty of Engineering, University of Adelaide, 5005 Adelaide, Australia., Clare S; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK., Muhammed K; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK., LeHeron C; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK.; New Zealand Brain Research Institute, 8011 Christchurch, New Zealand., Armstrong R; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK., Klein JC; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK., Husain M; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK.; Department of Experimental Psychology, University of Oxford, OX2 6GG Oxford, UK., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK., Hu MT; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK., Douaud G; FMRIB Centre, Wellcome Centre for Integrative Neuroimaging, John Radcliffe Hospital, University of Oxford, OX3 9DU Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK.
Publikováno v:
Brain communications [Brain Commun] 2023 Dec 06; Vol. 5 (6), pp. fcad282. Date of Electronic Publication: 2023 Dec 06 (Print Publication: 2023).
Autor:
Dominik N; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Currò R; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy., Abati E; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Facchini S; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; IRCCS Mondino Foundation, Pavia 27100, Italy., Corbetta M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Macpherson H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Sarto E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Stevanovski I; Genomics Pillar, Garvan Institute of Medical Research, Sydney 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst 2010, Australia., Chintalaphani SR; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst 2010, Australia., Akcimen F; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 2292, USA., Manini A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20145, Italy., Vegezzi E; IRCCS Mondino Foundation, Pavia 27100, Italy., Quartesan I; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy., Montgomery KA; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Pirota V; Department of Chemistry, University of Pavia, Pavia 27100, Italy.; G4-INTERACT, USERN, 27100 Pavia, Italy., Crespan E; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy., Perini C; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy., Grupelli GP; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy., Tomaselli PJ; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto 2650, Brazil., Marques W; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto 2650, Brazil., Shaw J; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Polke J; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Salsano E; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy., Fenu S; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy., Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy., Pisciotta C; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy., Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Ealing J; Salford Royal NHS Foundation Trust Greater Manchester Neuroscience Centre, Manchester Centre for Clinical Neurosciences Salford, Greater Manchester M6 8HD, UK., Radunovic A; Barts MND Centre, Royal London Hospital, London E1 1BB, UK., Kearney S; Department of Neurology, Royal Victoria Hospital, Belfast BT12 6BA, UK., Kumar KR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.; Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2139, Australia., Vucic S; Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2139, Australia.; Brain and Nerve Research Centre, Concord Hospital, Sydney, NSW 2139, Australia., Kennerson M; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Sydney, NSW 2050, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia., Reilly MM; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Houlden H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Deveson I; Genomics Pillar, Garvan Institute of Medical Research, Sydney 2010, Australia., Tucci A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Cortese A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5060-5069.
Autor:
Wooi F. Lim, Richard I. Morimoto, Kenneth H. Fischbeck, Carolina Courage, Forouhan M, Ingo Helbig, Janel O. Johnson, Angelucci F, Laura C. Bott, Ruth Ellerington, Federico Zara, Maria Lieto, Francesco Brancati, Nemeth Ah, Mikko Muona, Matthew J.A. Wood, Pasquale Striano, Alfina A Speciale, Chiara Criscuolo, David Chitayat, Ambre Sala, Samuel F. Berkovic, A. Filla, Carlo Rinaldi, A E Lehesjoki
The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the membrane of va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18dddc04cd85202f8a01172ada191fa0
https://doi.org/10.1101/2021.06.01.21257500
https://doi.org/10.1101/2021.06.01.21257500
Autor:
Steel DBD; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Danti FR; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Abunada M; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Kamien B; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Malhotra S; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Topf M; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Kaliakatsos M; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Valentine J; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Nemeth AH; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Jayawant S; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Reid KM; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Mankad K; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Sudhakar S; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Ben-Pazi H; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Barwick K; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel., Kurian MA; From the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel. manju.kurian@ucl.ac.uk.
Publikováno v:
Neurology [Neurology] 2023 May 23; Vol. 100 (21), pp. e2214-e2223. Date of Electronic Publication: 2023 Apr 11.
Autor:
Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9ace190b5c0e052e8600958734973424
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
Autor:
Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Simone R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Zenezini Chiozzi R; Mass-Spectrometry, Science Technology Platforms, University College London, London, United Kingdom., Jaunmuktane Z; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Mencacci NE; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Tinazzi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Jayawant S; Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, United Kingdom., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Feb; Vol. 38 (2), pp. 347-353. Date of Electronic Publication: 2022 Nov 23.
Autor:
Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, Attwood, A, Brown, M, Brod, NC, Crisp-Hihn, A, Davis, J, Deevi, SVV, Dewhurst, EF, Edwards, K, Erwood, M, Fox, J, Frary, AJ, Hu, F, Jolley, J, Kingston, N, Linger, R, Mapeta, R, Martin, J, Meacham, S, Papadia, S, Rayner-Matthews, PJ, Samarghitean, C, Shamardina, O, Simeoni, I, Staines, S, Staples, E, Stark, H, Stephens, J, Titterton, C, Von Ziegenweidt, J, Watt, C, Whitehorn, D, Wood, Y, Yates, K, Yu, P, James, R, Ashford, S, Penkett, CJ, Stirrups, KE, Bariana, T, Lentaigne, C, Sivapalaratnam, S, Westbury, SK, Allsup, DJ, Bakchoul, T, Biss, T, Boyce, S, Collins, J, Collins, PW, Curry, NS, Downes, K, Dutt, T, Erber, WN, Evans, G, Everington, T, Favier, R, Gomez, K, Greene, D, Gresele, P, Hart, D, Kazmi, R, Kelly, AM, Lambert, M, Madan, B, Mangles, S, Mathias, M, Millar, C, Obaji, S, Peerlinck, K, Roughley, C, Schulman, S, Scully, M, Shapiro, SE, Sibson, K, Sims, MC, Tait, RC, Talks, K, Thys, C, Toh, C-H, Van Geet, C, Westwood, J-P, Mumford, AD, Ouwehand, WH, Freson, K, Laffan, MA, Tan, RYY, Harkness, K, Mehta, S, Muir, KW, Hassan, A, Traylor, M, Drazyk, AM, Parry, D, Ahmed, M, Kazkaz, H, Vandersteen, AM, Ormondroyd, E, Thomson, K, Dent, T, Buchan, RJ, Bueser, T, Carr-White, G, Cook, S, Daniels, MJ, Harper, AR, Ware, JS, Dixon, PH, Chambers, J, Cheng, F, Estiu, MC, Hague, WM, Marschall, H-U, Vazquez-Lopez, M, Arno, G, French, CE, Michaelides, M, Moore, AT, Sanchis-Juan, A, Carss, K, Raymond, FL, Chinnery, PF, Griffiths, P, Horvath, R, Hudson, G, Jurkute, N, Pyle, A, Yu-Wai-Man, P, Whitworth, J, Adlard, J, Armstrong, R, Brewer, C, Casey, R, Cole, TRP, Evans, DG, Greenhalgh, L, Hanson, HL, Hoffman, J, Izatt, L, Kumar, A, Lalloo, F, Ong, KR, Park, S-M, Searle, C, Side, L, Snape, K, Woodward, E, Tischkowitz, M, Grozeva, D, Kurian, MA, Themistocleous, AC, Gosal, D, Marshall, A, Matthews, E, McCarthy, MI, Renton, T, Rice, ASC, Vale, T, Walker, SM, Woods, CG, Thaventhiran, JE, Allen, HL, Savic, S, Alachkar, H, Antrobus, R, Baxendale, HE, Browning, MJ, Buckland, MS, Cooper, N, Edgar, JDM, Egner, W, Gilmour, KC, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Hayman, G, Herwadkar, A, Huissoon, AP, Jolles, S, Kelleher, P, Kumararatne, D, Longhurst, H, Lorenzo, LE, Lyons, PA, Maimaris, J, Noorani, S, Richter, A, Sargur, RB, Sewell, WAC, Thomas, D, Thomas, MJ, Worth, A, Yong, PFK, Kuijpers, TW, Thrasher, AJ, Levine, AP, Sadeghi-Alavijeh, O, Wong, EKS, Cook, HT, Chan, MMY, Hall, M, Harris, C, McAlinden, P, Marchbank, KJ, Marks, S, Maxwell, H, Mozere, M, Wessels, J, Johnson, SA, Bleda, M, Hadinnapola, C, Haimel, M, Swietlik, E, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P, Danesino, C, Eyries, M, Gall, H, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Holden, S, Houweling, A, Howard, LS, Humbert, M, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, A, Pepke-Zaba, J, Scelsi, L, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, M, Treacy, C, Trembath, R, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Wilkins, MR, Wort, SJ, Graf, S, Louka, E, Roy, NB, Rao, A, Ancliff, P, Babbs, C, Layton, DM, Mead, AJ, O'Sullivan, J, Okoli, S, Saleem, M, Bierzynska, A, Diz, CB, Colby, E, Ekani, MN, Satchell, S, Fowler, T, Rendon, A, Scott, R, Smedley, D, Thomas, E, Caulfield, M, Abbs, S, Burrows, N, Chitre, M, Gattens, M, Gurnell, M, Kelsall, W, Poole, KES, Ross-Russell, R, Spasic-Boskovic, O, Twiss, P, Wagner, A, Banka, S, Clayton-Smith, J, Douzgou, S, Abulhoul, L, Aurora, P, Bockenhauer, D, Cleary, M, Dattani, M, Ganesan, V, Pilkington, C, Rahman, S, Shah, N, Wedderburn, L, Compton, CJ, Deshpande, C, Fassihi, H, Haque, E, Josifova, D, Mohammed, SN, Robert, L, Rose, SJ, Ruddy, DM, Sarkany, RN, Sayer, G, Shaw, AC, Campbell, C, Gibson, K, Koelling, N, Lester, T, Nemeth, AH, Palles, C, Patel, S, Sen, A, Taylor, J, Tomlinson, IP, Malka, S, Browning, AC, Burn, J, De Soyza, A, Graham, J, Pearce, S, Quinton, R, Schaefer, AM, Wilson, BT, Wright, M, Simpson, M, Syrris, P, Bradley, JR, Turro, E
Publikováno v:
NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot & Daniels, M J 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science (New York, N.Y.), vol. 364, no. 6442 . https://doi.org/10.1126/science.aau6520
Science, 364(6442). American Association for the Advancement of Science
Science
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520
Science, 364(6442). American Association for the Advancement of Science
Science
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520
INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd0acfee6b4573c8d6320d0057b56790
Autor:
Braisch, U, Muche, R, Rothenbacher, D, Landwehrmeyer, GB, Long, JD, Bentivoglio, AR, Biunno, I, Bonelli, RM, Dunnett, SB, Illmann, T, Levey, J, Ramos-Arroyo, M, Nielsen, JE, Paivarinta, M, Sebastian, AR, Tabrizi, SJ, Vandenberghe, W, Uhrova, T, Come, A, Garde, MB, Betz, S, Capodarca, S, Wildson, SC, da Silva, V, Di Renzo, M, Finisterra, M, Genoves, C, Gilling, M, Handley, OJ, Hvalstedt, C, Koppers, K, Lamanna, C, Laura, M, Descals, AM, Monza, D, Mutze, L, Oehmen, M, Padieu, H, Paterski, L, Koivisto, SP, Rindal, B, Roren, N, Sasinkova, P, Seliverstov, Y, Timewell, E, Cubillo, PT, van Walsem, MR, Witjes-Ane, MN, Yudina, E, Zielonka, E, Zinzi, P, Braunwarth, EM, Brugger, F, Buratti, L, Hametner, EM, Hepperger, C, Holas, C, Hotter, A, Hussl, A, Larcher, B, Mahlknecht, P, Muller, C, Pinter, B, Poewe, W, Seppi, K, Sprenger, F, Wenning, G, Dupuis, M, Minet, C, Ribai, P, Van Paemel, D, Verellen-Dumoulin, C, Klempir, J, Majerova, V, Roth, J, Babiloni, B, Debruxelles, S, Duche, C, Goizet, C, Jameau, L, Lafoucriere, D, Spampinato, U, Bachoud-Levi, AC, Boisse, MF, de Langavant, LC, Lemoine, L, Morgado, G, Youssov, K, Annic, A, Barthelemy, R, De Bruycker, C, Cabaret, M, Carette, AS, Carriere, N, Decorte, E, Defebvre, L, Delliaux, M, Delval, A, Depelchin, A, Destee, A, Dewulf-Pasz, N, Dondaine, T, Dugauquier, F, Dujardin, K, Lemaire, MH, Manouvrier, S, Peter, M, Plomhause, L, Sablonniere, B, Simonin, C, Tard, C, Thibault-Tanchou, S, Vuillaume, I, Bellonet, M, Benoit, A, Blin, S, Courtin, F, Duru, C, Fasquel, V, Godefroy, O, Krystkowiak, P, Mantaux, B, Roussel, M, Tir, M, Schuler, B, Wannepain, S, Azulay, JP, Chabot, C, Delfini, M, Eusebio, A, Fluchere, F, Grosjean, H, Mundler, L, Nowak, M, Bioux, S, Bliaux, E, Girard, C, Guyant-Marechal, L, Hannequin, D, Hannier, V, Jourdain, S, Maltete, D, Pouliquen, D, Blondeau, L, Calvas, F, Cheriet, S, Delabaere, H, Demonet, JF, Pariente, J, Pierre, M, Beuth, M, Gelderblom, H, Priller, J, Pruss, H, Spruth, E, Thiel, S, Ellrichmannberlin, G, Herrmann, L, Hoffmann, R, Kaminski, B, Saft, C, Bosredon, C, Hunger, U, Lohle, M, Maass, A, Ossig, C, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Kohl, Z, Kozay, C, Ullah, J, Winkler, J, Bergmann, U, Boringer, R, Capetian, P, Kammel, G, Lambeck, J, Meier, S, Rijntjes, M, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Heinicke, W, Hidding, U, Munchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Francis, F, Gayde-Stephan, S, Gorzolla, H, Kramer, B, Minschke, R, Schrader, C, Tacik, P, Longinus, B, Lusebrink, A, Muhlau, M, Peinemann, A, Stadtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Gopfert, N, Holzner, E, Lange, H, Reilmann, R, Rohm, S, Rumpf, S, Sass, C, Schepers, S, Weber, N, Barth, K, Buck, A, Connemann, J, Ecker, D, Geitner, C, Held, C, Kesse, A, Landwehrmeyer, B, Lezius, F, Lewerenz, J, Nepper, S, Niess, A, Orth, M, Schneider, A, Schwenk, D, Sussmuth, S, Trautmann, S, Weydt, P, Klebe, S, Musacchio, T, Leypold, C, Noth, K, Cormio, C, de Tommaso, M, Franco, G, Sciruicchio, V, Serpino, C, Calandra-Buonaura, G, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Sambati, L, Scaglione, C, Maserati, MS, Agosti, C, Barlati, S, Compostella, S, Marchina, E, Padovani, A, Bertini, E, Ghelli, E, Ginestroni, A, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, AM, Sorbi, S, Abbruzzese, G, di Poggio, MB, Ferrandes, G, Mandich, P, Marchese, R, Tamburini, T, Baake, V, van den Bogaard, SJA, Bos, R, Dumas, EM, t'Hart, EP, Kampstra, A, Roos, RAC, Schoonderbeek, A, Aaserud, O, Bjorgo, K, Borgeod, N, Dramstad, E, Fannemel, M, Frich, JC, Gorvell, PF, Heiberg, A, Lorentzen, E, Retterstol, L, Rosby, O, Sikiric, A, Stokke, B, van Walsem, M, Wehus, R, Bjornevoll, I, Sando, SB, Haug, MG, Storseth, HH, Arntsen, V, Dziadkiewicz, A, Konkel, A, Narozanska, E, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Arkuszewski, M, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Nska-Myga, BJ, Kaczmarczyk, A, Klodowska-Duda, G, Opala, G, Stompel, D, Banaszkiewicz, K, Bocwinska, D, Bojakowska-Jaremek, K, Dec, M, Grabska, N, Krawczyk, GM, Kubowicz, E, Malec-Litwinowicz, M, Rudzinska, M, Stenwak, A, Szczudlik, A, Szczygiel, E, Wojcik, M, Wasielewska, A, Bryl, JAA, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Sniewski, BW, Zielonka, D, Gogol, A, Janik, P, Jamrozik, Z, Kaminska, A, Kwiecinski, H, Antczak, J, Jachinska, K, Krysa, W, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz-Jarosz, H, Stepniak, I, Sulek, A, Witkowski, G, Zaremba, J, Zdzienicka, E, Ziora-Jakutowicz, K, Januario, C, Julio, F, Guedes, LC, Coelho, M, Finisterra, AM, Ferreira, JJ, Mestre, T, Mendes, T, Rosa, MM, Valadas, A, Kopishinskaya, S, Korotysh, M, Herrera, CD, Moreno, PG, Bas, J, Busquets, N, Calopa, M, Classen, SJ, Dedicha, NR, Buongiorno, MT, Maria, ADS, Munoz, E, Santacruz, P, Barbera, MA, Pardo, SA, Guia, DB, Calzado, N, Hernanz, LC, Diaz-Zorita, JPT, Catena, JL, Ferrer, PQ, Carruesco, GT, Robert, MF, Viladrich, CM, Roca, E, Idiago, JMR, Riballo, AV, Campolongo, A, de Bobadilla, RF, Bojarsky, JK, Martinez-Horta, S, Pagonabarraga, J, Perez, JP, Ribosa, R, Villa, C, Gil, MAA, Corrales, KB, Esteban, JCG, Gonzalez, A, Merino, BT, Cubo, E, Polo, CG, Mariscal, N, Romero, SG, Arbelo, JM, de Molina, RM, Martin, I, Perianez, JM, Udaeta, B, Alonso-Frech, F, Frades, B, Villanueva, MA, Sevilla, MAZ, Frech, FA, Fenollar, MD, Garcia, RGR, Villanueva, C, Bascunana, M, Ventura, MF, Ribas, GG, de Yebenes, JG, Moreno, JLLS, Barral, VM, Ruiz, PJG, Garcia, A, Lopez, RG, Barcenas, AH, Martinez-Descals, A, Martin, VP, Martinez, NR, Artiga, MJS, Sanchez, V, Pueyo, A, Gonzalez, S, Guisasola, LM, Ribacoba, MPPR, Salvador, C, Lozano, PS, Caldentey, JG, Ramirez, IL, Arques, PN, Lopera, MR, Pastor, BV, Gaston, I, Garcia-Amigot, F, Martinez-Jaurrieta, MD, Ramos-Arroyo, MA, Carrillo, F, Redondo, MTC, Mir, P, Gonzalez, LV, Moreno, JMG, Lucena, CM, Pena, JC, Redondo, L, Sanchez, VS, Fernandez, CM, Mata, MP, Lemos, MDR, Bosca, M, Burguera, JA, Vilaplana, FCBCP, Solis, P, Figuerola, BJ, Palanca, PM, Berglund, P, Constantinescu, R, Fredlund, G, Hosterey-Ugander, U, Linnsand, P, Neleborn-Lingefjard, L, Wahlstrom, J, Palhagen, S, Svenningsson, P, Paucar, M, Wallden, T, Ekwall, C, Goller, ML, Sundblom, J, Stebler, Y, Kaelin, A, Romero, I, Schupbach, M, Zaugg, SW, Jung, H, Petersen, J, Auer, M, Mihaylova, V, Vernon, N, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Piedad, J, Rickards, H, Wright, J, Pallett, A, Coulthard, E, Gethin, L, Hayward, B, Sieradzan, K, Wright, A, Busse, M, Butcher, C, Dunnett, S, Clenaghan, C, Hunt, S, Jones, L, Jones, U, Khalil, H, Minster, S, Owen, M, Price, K, Townhill, J, Rosser, A, Edwards, M, Ho, C, McGill, M, Porteous, M, Pearson, P, Harrower, T, Irvine, S, Brockie, P, Foster, J, Johns, N, McKenzie, S, Rothery, J, Thomas, G, Yates, S, Deith, C, Ireland, J, Ritchie, S, Andrew, A, Frost, J, Noad, R, Cosgrove, J, Gallantree, D, Hamer, S, Hobson, E, Jamieson, S, Kraus, A, Longthorpe, M, Markova, I, Musgrave, H, Peacy, C, Raman, A, Rowett, L, Toscano, J, Wild, S, Yardumian, P, Clayton, C, Dipple, H, Freire-Patino, D, Hallam, C, Middleton, J, Alusi, S, Davies, R, Foy, K, Gerrans, E, Leggett, H, Pate, L, Anjum, U, Coebergh, J, Eddy, C, McEntagart, M, Patton, M, Peterson, M, Rose, S, Andrews, T, Brown, S, Bruno, S, Doherty, K, Golding, C, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Johnson, L, Jones, M, Krishnamoorthy, A, Murphy, H, Oughton, E, Partington-Jones, L, Rogers, D, Sollom, A, Snowden, J, Stopford, C, Thompson, J, Tinkler, P, Trender-Gerhard, I, Verstraelen, N, Westmoreland, L, Cass, G, Davidson, L, Davison, J, Fullerton, N, Holmes, K, Komati, S, McDonnell, S, Mohammed, Z, Morgan, K, Savage, L, Singh, B, Wood, J, Chu, E, Knight, C, O'Neill, M, Das Purkayastha, D, Nemeth, AH, Siuda, G, Valentine, R, Dixon, K, Armstrong, R, Harrison, D, Hughes, M, Large, S, Donovan, JO, Palmer, A, Parkinson, A, Soltysiak, B, Timings, L, Williams, J, Burn, J, Weekes, R, Craven, J, Bailey, W, Coleman, C, Haig-Brown, D, Simpson, S, Hare, M, Majeed, T, Bandmann, O, Bradbury, A, Fairtlough, H, Fillingham, K, Foustanos, I, Gill, P, Kazoka, M, Nevitt, L, Peppa, N, Quarrell, O, Taylor, C, Tidswell, K, O'Donovan, K, Agarwal, V, Anderson, M, Gunner, K, Harris, K, Hayward, E, Heywood, M, Keys, L, Kipps, C, MacKinnon, L, Smalley, S, Gowers, L, Powell, K, Bethwaite, P, Edwards, R, Fuller, K, Phillips, M, Tan, L, Burgunder, JM, Lau, PN, Pica, E, Shoulson, I, Gusella, JG, Antonijevic, I, vankammen, D, Foroud, T, Warner, J, Giuliano, J, Vetter, L, Marshall, F, Marder, K, Frucht, S, Moskowitz, C, Clouse, R, Wasserman, P, Shannon, K, Jaglin, J, Jankovic, J, Palao, A, Harrison, M, Singer, C, Quesada, M, Hersch, S, Rosas, D, Tanev, K, Malarick, K, Colcher, A, Sanchez-Ramos, J, Kostyk, S, Paulsen, J, Perlmutter, J, Tabbal, S, Ross, C, Dorsey, R, Nucifora, F, Dubinsky, R, Dubinsky, H, Suchowersky, O, Klimek, ML, Jones, R, Morgan, J, Mohlo, E, Kang, U, Agarwal, P, Factor, S, Jennings, D, Higgins, D, Adams, J, Frank, S, Saint-Hilaire, M, Diggin, M, Furtado, S, Walker, F, O'Neill, C, Quaid, K, LeDoux, M, Raymond, L, Leavitt, B, Decolongon, J, Perlman, S, Peavy, G, Goldstein, J, Kumar, R, McCusker, E, Griffith, J, Loy, C, Wheelock, V, Tempkin, T, Martin, A, Nance, M, Mallonee, W, Suter, G, Revilla, F, Gartner, M, Drazinic, C, Fitzpatrick, MJ, Panisset, M, Duff, K, Scott, B, Weiner, W, Robottom, B, Chiu, E, Yastrubetskaya, O, Churchyard, A, Greenamyre, TJ, Oakes, D, Beck, C, Robertson, S, Eaton, K, Lindsay, P, Deuel, L, MacDonald, M, Hickey, C, Muratori, L, Leserman, A, Doucette, N, Uc, E, Rodnitzky, R, Vik, S, Davis, R, Dietrich, S, Segro, V, Erickson, D, Hunt, V, Lucarelli, N, Broyles, J, Delarosa, J, Louis, E, Panegyres, P, Schmidt, A, Barton, S, Sperin, E, Testa, C, Thiede, F, Zauber, SE, McInnis, R, Welsh, C, Wesson, M, Coleman, A
Publikováno v:
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 180(3), 232-245. WILEY
Digital.CSIC. Repositorio Institucional del CSIC
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 180(3), 232-245. WILEY
Digital.CSIC. Repositorio Institucional del CSIC
REGISTRY Investigators of the European Huntington's Disease Network and COHORT Investigators of the Huntington Study Group.
Studying individuals with extreme phenotypes could facilitate the understanding of disease modification by genetic or env
Studying individuals with extreme phenotypes could facilitate the understanding of disease modification by genetic or env
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a2bcfc1570fcf7e88ed2bcbbfcb347
https://doi.org/10.1002/ajmg.b.32719
https://doi.org/10.1002/ajmg.b.32719
Autor:
Wirth T; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France., Garone G; University Hospital Pediatric Department, IRCCS Bambino Gesù Children's Hospital, University of Rome Tor Vergata, Rome, Italy.; Movement Disorders Clinic, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Piton A; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France., Millan F; GeneDx, Gaithersburg, Maryland, USA., Telegrafi A; GeneDx, Gaithersburg, Maryland, USA., Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France., Rudolf G; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France., Chelly J; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France., Marks W; Cook Children's Medical Centre, Fort Worth, Texas, USA., Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, Paris, France., Demailly D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France., Coubes P; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France., Castro-Jimenez M; Service de Neurologie, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland., Joriot S; Department of Paediatric Neurology, University Hospital of Lille, Lille, France., Ghoumid J; Univ. Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France., Belin J; Service de neurologie, CHU Tours, Tours, France., Faucheux JM; Service de neurologie, Hôpital d'Agen, Agen, France., Blumkin L; Pediatric Movement Disorders Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Hull M; Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Houston, Texas, USA., Parnes M; Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Houston, Texas, USA., Ravelli C; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, FHU I2D2, Paris, France., Poulen G; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France., Calmels N; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France., Nemeth AH; Oxford University Hospitals National Health Service Foundation Trust and University of Oxford, Oxford, United Kingdom., Smith M; Oxford University Hospitals National Health Service Foundation Trust and University of Oxford, Oxford, United Kingdom., Barnicoat A; Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom., Ewenczyk C; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Méneret A; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Roze E; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Keren B; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Mignot C; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Beroud C; Aix Marseille Université, INSERM, MMG, Bioinformatics & Genetics, Marseille, France., Acosta F Jr; Cook Children's Medical Centre, Fort Worth, Texas, USA., Nowak C; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Wilson WG; Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA., Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Capuano A; Movement Disorders Clinic, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy., Vidailhet M; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Lin JP; Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas NHS Foundation Trust, London, United Kingdom., Tranchant C; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France., Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France., Doummar D; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, FHU I2D2, Paris, France., Anheim M; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jul; Vol. 37 (7), pp. 1547-1554. Date of Electronic Publication: 2022 Jun 20.