Childhood Onset of Stiff-Man Syndrome

Por Clardy, Stacey L., Lennon, Vanda A., Dalmau, Josep, Pittock, Sean J., Jones, H. Royden, Renaud, Deborah L., Harper, Charles M., Matsumoto, Joseph Y., McKeon, Andrew
Publicado no JAMA Neurol (2013)

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Por Berhe, Simon, Heeney, Matthew M., Campagna, Dean R., Thompson, John F., White, Eric J., Ross, Tristen, Peake, Roy W. A., Hanrahan, Jeffery D., Rodriguez, Vilmarie, Renaud, Deborah L., Patnaik, Mrinal S., Chang, Eugenia, Bottomley, Sylvia S., Fleming, Mark D.
Publicado no Haematologica (2018)

CSF and Blood Levels of GFAP in Alexander Disease

Por Jany, Paige L., Agosta, Guillermo E., Benko, William S., Eickhoff, Jens C., Keller, Stephanie R., Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L., Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S., Messing, Albee
Publicado no eNeuro (2015)