Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Por Scoto, Mariacristina, Rossor, Alexander M., Harms, Matthew B., Cirak, Sebahattin, Calissano, Mattia, Robb, Stephanie, Manzur, Adnan Y., Martínez Arroyo, Amaia, Rodriguez Sanz, Aida, Mansour, Sahar, Fallon, Penny, Hadjikoumi, Irene, Klein, Andrea, Yang, Michele, De Visser, Marianne, Overweg-Plandsoen, W.C.G. (Truus), Baas, Frank, Taylor, J. Paul, Benatar, Michael, Connolly, Anne M., Al-Lozi, Muhammad T., Nixon, John, de Goede, Christian G.E.L., Foley, A. Reghan, Mcwilliam, Catherine, Pitt, Matthew, Sewry, Caroline, Phadke, Rahul, Hafezparast, Majid, Chong, W.K. “Kling”, Mercuri, Eugenio, Baloh, Robert H., Reilly, Mary M., Muntoni, Francesco
Publicado no Neurology (2015)