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Autor:
K.D. Foust, Lyndsey Braun, Lindsay N. Alfano, Richard Shell, Thomas W. Prior, Sarah Corcoran, John T. Kissel, Samiah Al-Zaidy, Kathleen Church, Brian K. Kaspar, Linda Lowes, Sukumar Nagendran, Courtney Wells, Arthur H.M. Burghes, Douglas M. Sproule, W. Dave Arnold, Carlos Henrique Miranda, Kathrin Meyer, Louise R. Rodino-Klapac, Marjet D. Heitzer, James L’Italien, K. Berry, Allan Arman Kaspar, Jerry R. Mendell, Shibi Likhite, Jessica A. Cardenas
Publikováno v:
New England Journal of Medicine. 377:1713-1722
Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor neuron disease with an onset during infancy that results in failure to achieve motor milestones and in death or the need for mechanical ventilation by 2 years of age. We studied