ARRESTED PRE-OLIGODENDROCYTE MATURATION CONTRIBUTES TO MYELINATION FAILURE IN PREMATURE INFANTS

Por Buser, Joshua R., Maire, Jennifer, Riddle, Art, Gong, Xi, Nguyen, Thuan, Nelson, Kerst, Luo, Ning Ling, Ren, Jennifer, Struve, Jaime, Sherman, Larry S., Miller, Steven P., Chau, Vann, Hendson, Glenda, Ballabh, Praveen, Grafe, Marjorie R., Back, Stephen A.
Publicado em 2012

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Por Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K., Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F.
Publicado no Orphanet J Rare Dis (2016)

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Por Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli, Maria, Suetterlin, Karen, Sarkozy, Anna, D’Argenzio, Luigi, Hartley, Louise, Matthews, Emma, Pitt, Matthew, Vissing, John, Ballegaard, Martin, Krarup, Christian, Slørdahl, Andreas, Halvorsen, Hanne, Ye, Xin Cynthia, Zhang, Lin-Hua, Løkken, Nicoline, Werlauff, Ulla, Abdelsayed, Mena, Davis, Mark R., Feng, Lucy, Phadke, Rahul, Sewry, Caroline A., Morgan, Jennifer E., Laing, Nigel G., Vallance, Hilary, Ruben, Peter, Hanna, Michael G., Lewis, Suzanne, Kamsteeg, Erik-Jan, Männikkö, Roope, Muntoni, Francesco
Publicado no Brain (2016)

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, Boerkoel Cornelius F
Publicado em 2012-09-01

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Por McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.
Publicado em 2010

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F
Publicado em 2012