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1دورية أكاديمية
المؤلفون: Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C., van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, RobertAff7, Aff8, Taylor, Robert W.Aff7, Aff8, Patel, Krutik, Fassad, Mahmoud R., Vandrovcova, Jana, Wanders, Ronald J. A., van der Westhuizen, Francois H.Aff1, IDs13023023030148_cor18
المصدر: Orphanet Journal of Rare Diseases. 19(1)
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2دورية أكاديمية
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3دورية أكاديمية
المؤلفون: Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle
المصدر: Brain: A Journal of Neurology; Dec2023, Vol. 146 Issue 12, p5098-5109, 12p
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4دورية أكاديمية
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5Editorial & Opinion
المؤلفون: Henning F; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa., Naidu K; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Lubbe F; Neurology Private Practice, Hermanus, South Africa., Dercksen M; Faculty of Natural and Agricultural Sciences, Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Wilson LA; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Van Der Westhuizen F; Faculty of Natural and Agricultural Sciences, Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Carr J; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.
مؤلفون مشاركون: ICGNMD Consortium
المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Aug 02. Date of Electronic Publication: 2024 Aug 02.
نوع المنشور: Letter
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE
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6دورية أكاديمية
المؤلفون: Wilson LA; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Perry LD; Institute of Child Health and Centre for Neuromuscular Diseases, Neurosciences Unit, The Dubowitz Neuromuscular Centre, University College London, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Schon KR; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Frezatti RSS; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Raga S; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., Naidu K; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa., Köken ÖY; Faculty of Medicine, Department of Pediatric Neurology, Akdeniz University, Antalya, Turkey., Polat I; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey., Kapapa MM; Department of Physiotherapy, University of Zambia School of Health Sciences & University Teaching Hospital Neurology Research Office, Lusaka, Zambia., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Nel M; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Gao F; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Schoonen M; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Bisschoff M; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Vorster A; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Jonvik H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Human R; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Lubbe E; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Nonyane M; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Srivastava K; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Reyaz A; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Mishra R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Trainor CI; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Steyn EC; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Mahungu AC; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Ceylan AC; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Hiz AS; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey., Çavdarlı B; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Semerci Gündüz CN; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Ceylan GG; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Nagappa M; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Tallapaka KB; CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, Telangana, India., Govindaraj P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Narayanappa G; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Nandeesh BN; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Wa Somwe S; Department of Clinical Sciences, School of Medicine and Health Sciences, University of Lusaka, Lusaka, Zambia., Bearden DR; University of Zambia Department of Educational Psychology, Lusaka, Zambia.; Department of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY 14642, USA., Kvalsund MP; Department of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY 14642, USA.; Department of Internal Medicine, University of Zambia School of Medicine, Lusaka, Zambia., Ramdharry GM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Oktay Y; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey.; Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey., Yiş U; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey., Topaloğlu H; Yeditepe University Hospitals, Istanbul, Turkey., Sarkozy A; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Henning F; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa., Wilmshurst JM; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., Heckmann JM; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., van der Westhuizen FH; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Sobreira CFDR; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Tomaselli PJ; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Marques W Jr; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Bhatia R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Srivastava MVP; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Yareeda S; Department of Neurology, Nizam's Institute of Medical Sciences (NIMS), Hyderabad, Telangana, India., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Vishnu VY; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Thangaraj K; CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, Telangana, India., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Muntoni F; Institute of Child Health and Centre for Neuromuscular Diseases, Neurosciences Unit, The Dubowitz Neuromuscular Centre, University College London, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
المصدر: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5098-5109.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE