Cardiac MRI in Duchenne and Becker Muscular Dystrophy.

Autor: Girija, Manu Santhappan, Menon, Deepak, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Vengalil, Seena, Nashi, Saraswati, Keertipriya, Madassu, Bardhan, Mainak, Thomas, Priya Treesa, Kiran, Valasani Ravi, Nishadham, Vikas, Sadasivan, Arun, Huddar, Akshata, Unnikrishnan, Gopi Krishnan, Barthur, Ashita, Nalini, Atchayaram

Publikováno v: Annals of Indian Academy of Neurology; Sep/Oct2024, Vol. 27 Issue 5, p552-557, 7p

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Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Autor: Polavarapu K; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada., Sunitha B; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge CB2 0SP, UK.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK., Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Preethish-Kumar V; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.; Department of Neurology, Neurofoundation, Salem, Tamil Nadu 636009, India., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada., Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Bardhan M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Sanka SB; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Huddar A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.; Department of Neurology, St Johns Medical College Hospital, Bangalore 560034, India., Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.; Department of Neurology, Amruta Institute of Medical Sciences, Kochi 682041, India., Arunachal G; Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru 560029, India., Girija MS; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Porter A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Azuma Y; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Lorenzoni PJ; Neuromuscular Disorders Division, Service of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná, Rua General Carneiro, Curitiba - PR 80060-900, Brazil., Baskar D; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Anjanappa RM; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Keertipriya M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Padmanabh H; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Harikrishna GV; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Laurie S; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia 08028, Spain., Matalonga L; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia 08028, Spain., Horvath R; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge CB2 0SP, UK., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia 08028, Spain.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8M5, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg 79110, Germany.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Jan 04; Vol. 147 (1), pp. 281-296.