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Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu, Kiran; Sunitha, Balaraju; Töpf, Ana; Preethish-Kumar, Veeramani; Thompson, Rachel; Vengalil, Seena; Nashi, Saraswati; Bardhan, Mainak; Sanka, Sai Bhargava; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Arunachal, Gautham; Girija, Manu Santhappan; Porter, Anna; Azuma, Yoshiteru; Lorenzoni, Paulo José; Baskar, Dipti; Anjanappa, Ram Murthy; Keertipriya, Madassu; Padmanabh, Hansashree; Harikrishna, Ganaraja Valakunja; Laurie, Steve; Matalonga, Leslie; Horvath, Rita; Nalini, Atchayaram; Lochmüller, Hanns.
Affiliation
  • Polavarapu K; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Sunitha B; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
  • 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 Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge CB2 0SP, UK.
  • Thompson R; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
  • Vengalil S; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Bardhan M; Department of Neurology, Neurofoundation, Salem, Tamil Nadu 636009, India.
  • Sanka SB; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
  • Huddar A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Arunachal G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Girija MS; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Porter A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Azuma Y; Department of Neurology, St Johns Medical College Hospital, Bangalore 560034, India.
  • Lorenzoni PJ; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Baskar D; Department of Neurology, Amruta Institute of Medical Sciences, Kochi 682041, India.
  • Anjanappa RM; Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru 560029, India.
  • Keertipriya M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Padmanabh H; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Harikrishna GV; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Laurie S; 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.
  • Matalonga L; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Horvath R; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
  • Lochmüller H; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
Brain ; 147(1): 281-296, 2024 01 04.
Article in En | MEDLINE | ID: mdl-37721175
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myasthenic Syndromes, Congenital Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Brain Year: 2024 Type: Article Affiliation country: India
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myasthenic Syndromes, Congenital Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Brain Year: 2024 Type: Article Affiliation country: India