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Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Barbeau, Susie; Semprez, Fannie; Dobbertin, Alexandre; Merriadec, Laurine; Roussange, Florine; Eymard, Bruno; Sternberg, Damien; Fournier, Emmanuel; Karasoy, Hanice; Martinat, Cécile; Legay, Claire.
Afiliação
  • Barbeau S; CNRS, Saint Pères Paris Institute for the Neurosciences (SPPIN), Université Paris Cité, 75270 Paris, France.
  • Semprez F; CNRS, Saint Pères Paris Institute for the Neurosciences (SPPIN), Université Paris Cité, 75270 Paris, France.
  • Dobbertin A; CNRS, Saint Pères Paris Institute for the Neurosciences (SPPIN), Université Paris Cité, 75270 Paris, France.
  • Merriadec L; INSERM/UEPS UMR 861, Université Paris Saclay, I-STEM, 91100 Corbeil-Essonnes, France.
  • Roussange F; INSERM/UEPS UMR 861, Université Paris Saclay, I-STEM, 91100 Corbeil-Essonnes, France.
  • Eymard B; Inserm U 1127, CNRS UMR 7225, Sorbonne Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, 75013 Paris, France.
  • Sternberg D; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France.
  • Fournier E; Inserm U 1127, CNRS UMR 7225, Sorbonne Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, 75013 Paris, France.
  • Karasoy H; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France.
  • Martinat C; Department of Physiology, Faculté de Médecine Pitié-Salpêtrière, Sorbonne Université, 75006 Paris, France.
  • Legay C; Department of Neurology, Faculty of Medicine, Ege University, Izmir 35100, Turkey.
Int J Mol Sci ; 24(22)2023 Nov 11.
Article em En | MEDLINE | ID: mdl-38003406
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas Limite: Adult / Animals / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas Limite: Adult / Animals / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França