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Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Balaraju, Sunitha; Töpf, Ana; McMacken, Grace; Kumar, Veeramani Preethish; Pechmann, Astrid; Roper, Helen; Vengalil, Seena; Polavarapu, Kiran; Nashi, Saraswati; Mahajan, Niranjan Prakash; Barbosa, Ines A; Deshpande, Charu; Taylor, Robert W; Cossins, Judith; Beeson, David; Laurie, Steven; Kirschner, Janbernd; Horvath, Rita; McFarland, Robert; Nalini, Atchayaram; Lochmüller, Hanns.
Afiliación
  • Balaraju S; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge, UK.
  • Töpf A; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • McMacken G; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Kumar VP; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Pechmann A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Roper H; Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Vengalil S; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Polavarapu K; Department of Paediatrics, Heartlands Hospital, Birmingham, UK.
  • Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Mahajan NP; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Barbosa IA; Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Deshpande C; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Taylor RW; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Cossins J; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences King's College London, London, UK.
  • Beeson D; Clinical Genetics Unit, Guys and St Thomas' NHS Foundation Trust, London, UK.
  • Laurie S; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Kirschner J; Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Horvath R; Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • McFarland R; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain.
  • Nalini A; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Lochmüller H; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Eur J Hum Genet ; 28(3): 373-377, 2020 03.
Article en En | MEDLINE | ID: mdl-31527857
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Síndromes Miasténicos Congénitos / Transportadores de Anión Orgánico / Proteínas Mitocondriales / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Síndromes Miasténicos Congénitos / Transportadores de Anión Orgánico / Proteínas Mitocondriales / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido