Zobrazeno 1 - 10
of 886
pro vyhledávání: '"Labrum, R."'
Autor:
Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Tabara LC; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Munro B; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 3EB, UK., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Sonmezler E; Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Lu S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Tilokani L; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Flannery PJ; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Patel N; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Pope SAS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Heales SJR; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Hammadi DBH; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, 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 NE1 7RU, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa ON K1H 8L1, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa ON K1Y 4E9, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg 79106, Germany.; Centro Nacional de Análisis Genómico (CNAG), Barcelona Institute of Science and Technology (BIST), Barcelona 08003, Spain., Woodward CE; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK., Labrum R; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Chronopoulou E; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol BS1 3NU, UK., Pierre G; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol BS1 3NU, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Taanman JW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Hiz S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey.; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey., Oktay Y; Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey.; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12311, Egypt., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 3EB, UK., Prudent J; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Aug 30. Date of Electronic Publication: 2024 Aug 30.
Autor:
Wade C; Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UCL Queen Square Institute of Neurology, London, UK., Williams T; Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UCL Queen Square Institute of Neurology, London, UK., Labrum R; Rare & Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Patel Y; Rare & Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Cali E; Department of Neuromuscular Diseases, University College London, London, UK., Davagnanam I; Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, National Hospital for Neurology and Neurosurgery, London, UK., Adams ME; Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, National Hospital for Neurology and Neurosurgery, London, UK., Barkhof F; Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UCL Queen Square Institute of Neurology, London, UK.; Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, National Hospital for Neurology and Neurosurgery, London, UK.; Department of Radiology & Nuclear Medicine, Amsterdam UMC, Amsterdam, Netherlands., Murphy E; Charles Dent Metabolic Unit, University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery, London, UK., Chataway J; Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UCL Queen Square Institute of Neurology, London, UK.; National Institute for Health Research, University College London Hospitals, Biomedical Research Centre, London, UK., Houlden H; Department of Neuromuscular Diseases, University College London, London, UK., Lynch DS; Department of Neuromuscular Diseases, University College London, London, UK david.lynch.13@ucl.ac.uk.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2024 Feb 14; Vol. 95 (3), pp. 290-292. Date of Electronic Publication: 2024 Feb 14.
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Autor:
Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Woodward CE; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Scotchman E; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Chitty LS; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Polke JM; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Chandler N; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Labrum R; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
Publikováno v:
Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jul-Dec; Vol. 23 (9), pp. 797-814. Date of Electronic Publication: 2023 Aug 29.
Autor:
Mavraki E; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Labrum R; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Sergeant K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Alston CL; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Woodward C; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Smith C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Knowles CVY; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Patel Y; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Hodsdon P; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Baines JP; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Blakely EL; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Polke J; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Taylor RW; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Fratter C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. Carl.Fratter@ouh.nhs.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Feb; Vol. 31 (2), pp. 148-163. Date of Electronic Publication: 2022 Dec 13.
Autor:
Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., McKittrick C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Ellmers R; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Eggleton K; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Woodward CE; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Patel Y; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Labrum R; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Phadke R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., DeVile C; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sarkozy A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Footitt E; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Davison J; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK., Rahman S; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Quinlivan R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. j.vandrovcova@ucl.ac.uk., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. r.pitceathly@ucl.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2022 Nov 07; Vol. 13 (1), pp. 6324. Date of Electronic Publication: 2022 Nov 07.
Autor:
Brown AF; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, United Kingdom., Parkinson MH; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, United Kingdom., Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, United Kingdom., Mudanohwo E; Neurogenetics Unit, National Hospital for Neurology & Neurosurgery, University College London Hospitals, Queen Square, London, United Kingdom., Labrum R; Neurogenetics Unit, National Hospital for Neurology & Neurosurgery, University College London Hospitals, Queen Square, London, United Kingdom., Sweeney M; Neurogenetics Unit, National Hospital for Neurology & Neurosurgery, University College London Hospitals, Queen Square, London, United Kingdom., Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, United Kingdom.
Publikováno v:
Frontiers in neurology [Front Neurol] 2021 Dec 09; Vol. 12, pp. 736253. Date of Electronic Publication: 2021 Dec 09 (Print Publication: 2021).
Autor:
Nethisinghe S; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Kesavan M; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Ging H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Labrum R; Neurogenetics Service, Rare and Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3BH, UK., Polke JM; Neurogenetics Service, Rare and Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3BH, UK., Islam S; UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Callaghan MF; Wellcome Centre for Human Neuroimaging, UCL Queen Square Institute of Neurology, University College London, London WC1N 3AR, UK., Cavalcanti F; Institute for Biomedical Research and Innovation (IRIB), Italian National Research Council (CNR), 87050 Mangone, Italy., Pook MA; Ataxia Research Group, Division of Biosciences, Department of Life Sciences, College of Health and Life Sciences, Brunel University London, Uxbridge UB8 3PH, UK.; Synthetic Biology Theme, Institute of Environment, Health and Societies, Brunel University London, Uxbridge UB8 3PH, UK., Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 13; Vol. 22 (14). Date of Electronic Publication: 2021 Jul 13.
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:
Baille, Guillaume1 (AUTHOR), Geoffre, Nicolas2 (AUTHOR), Wissocq, Anna2 (AUTHOR), Planté-Bordeneuve, Pauline2 (AUTHOR), Mutez, Eugénie3,4 (AUTHOR), Huin, Vincent2,4,5 (AUTHOR) vincent.huin@inserm.fr
Publikováno v:
BMC Neurology. 9/17/2024, Vol. 24 Issue 1, p1-5. 5p.