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, Robert^{Aff7, 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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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

مصطلحات موضوعية: NEUROMUSCULAR diseases, DUCHENNE muscular dystrophy, BECKER muscular dystrophy, FACIOSCAPULOHUMERAL muscular dystrophy, POPULATION genetics, MUSCULAR dystrophy

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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

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

مواضيع طبية MeSH: Peripheral Nervous System Diseases* , Neuromuscular Diseases*/genetics , Muscular Dystrophies* , Muscular Dystrophies, Limb-Girdle*/diagnosis, Humans ; DNA