Zobrazeno 1 - 3
of 3
pro vyhledávání: '"NatHis SMA Study Group"'
Autor:
Mélanie Annoussamy, Andreea M. Seferian, Aurore Daron, Yann Péréon, Claude Cances, Carole Vuillerot, Liesbeth De Waele, Vincent Laugel, Ulrike Schara, Teresa Gidaro, Charlotte Lilien, Jean‐Yves Hogrel, Pierre Carlier, Emmanuel Fournier, Linda Lowes, Ksenija Gorni, Myriam Ly‐Le Moal, Nicole Hellbach, Timothy Seabrook, Christian Czech, Ricardo Hermosilla, Laurent Servais, the NatHis‐SMA study group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 359-373 (2021)
Abstract Objective To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for the sensitivity of these measures to determine their suitability as
Externí odkaz:
https://doaj.org/article/5662815653b845ccaffc6ca741781c22
Autor:
Aurélie Chabanon, Andreea Mihaela Seferian, Aurore Daron, Yann Péréon, Claude Cances, Carole Vuillerot, Liesbeth De Waele, Jean-Marie Cuisset, Vincent Laugel, Ulrike Schara, Teresa Gidaro, Stéphanie Gilabert, Jean-Yves Hogrel, Pierre-Yves Baudin, Pierre Carlier, Emmanuel Fournier, Linda Pax Lowes, Nicole Hellbach, Timothy Seabrook, Elie Toledano, Mélanie Annoussamy, Laurent Servais, NatHis-SMA study group
Publikováno v:
PLoS ONE, Vol 13, Iss 7, p e0201004 (2018)
Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to
Externí odkaz:
https://doaj.org/article/8e53dfefa9074e629eb629c96b5c663b
Autor:
J. Hogrel, M. Annoussamy, A. Chabanon, A. Daron, Y. Péréon, C. Cancès, C. Vuillerot, N. Goemans, J. Cuisset, V. Laugel, U. Schara, E. Gargaun, T. Gidaro, A. Seferian, S. Turk, R. Hermosilla, E. Fournier, P. Baudin, P. Carlier, L. Servais, NatHis SMA Study Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56ebfbcdf83caebf37fa06b304e3d22e
