Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

Autor: Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, Pierre Beze-Beyrie, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol, Isabelle Desguerre

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017.

Externí odkaz: https://doaj.org/article/318647e3ed8f4622944ee433cb371756

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

Autor: Brigitte Chabrol, Pierre Beze-Beyrie, Vincent Laugel, Carole Vuillerot, Anne-Laude Avice, Delphine Bernoux, Anne Perville, Cecilia Altuzarra, Christine Barnerias, Emmanuelle Lagrue, Paola Ramirez-Garcia, Catherine Sarret, Catherine Vanhulle, Jean-Marie Cuisset, Susana Quijano-Roy, Vanessa Pauly, Juliette Ropars, Caroline Espil-Taris, Frédérique Audic, Claude Cances, Julien Durigneux, Isabelle Desguerre, Arnaud Isapof, Hervé Testard, Mondher Chouchane, Marta Gomez Garcia de la Banda, Pascal Sabouraud, Valérie Trommsdorff, Ulrike Walther-Louvier, Christian Richelme

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2020, 15 (1), ⟨10.1186/s13023-020-01414-8⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), ⟨10.1186/s13023-020-01414-8⟩
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac0ec21f0f9ae6f5655aa15d247e24f6
https://doi.org/10.1186/s13023-020-01414-8