Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS

por Tantzer, Stephanie, Sperle, Karen, Kenaley, Kaitlin, Taube, Jennifer, Hobson, Grace M.
Publicado 2018

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

por Bahrambeigi, Vahid, Song, Xiaofei, Sperle, Karen, Beck, Christine R., Hijazi, Hadia, Grochowski, Christopher M., Gu, Shen, Seeman, Pavel, Woodward, Karen J., Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.
Publicado 2019

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

por Beck, Christine R., Carvalho, Claudia M. B., Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M., Henneke, Marco, Seeman, Pavel, Garbern, James Y., Hobson, Grace M., Lupski, James R.
Publicado 2015

Altered PLP1 splicing causes hypomyelination of early myelinating structures

por Kevelam, Sietske H, Taube, Jennifer R, van Spaendonk, Rosalina M L, Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A, Bernard, Geneviève, Catsman-Berrevoets, Coriene E, van Karnebeek, Clara D M, Østergaard, John R, Friederich, Richard L, Fawzi Elsaid, Mahmoud, Schieving, Jolanda H, Tarailo-Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E, van Berkel, Carola G M, Waisfisz, Quinten, Abbink, Truus E M, van der Knaap, Marjo S, Hobson, Grace M, Wolf, Nicole I
Publicado 2015

Genome sequencing in persistently unsolved white matter disorders

por Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole I., Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, van der Knaap, Marjo S., Simons, Cas, Taft, Ryan J., Vanderver, Adeline
Publicado 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

por Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
Publicado 2020