Cardiomyocyte Regeneration in the mdx Mouse Model of Nonischemic Cardiomyopathy

Por Richardson, Gavin David, Laval, Steven, Owens, William Andrew
Publicado no Stem Cells Dev (2015)

Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides

Por Burki, Umar, Keane, Jonathan, Blain, Alison, O'Donovan, Liz, Gait, Michael John, Laval, Steven H., Straub, Volker
Publicado no Nucleic Acid Ther (2015)

Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy

Por Meng, Jinhong, Counsell, John R., Reza, Mojgan, Laval, Steven H., Danos, Olivier, Thrasher, Adrian, Lochmüller, Hanns, Muntoni, Francesco, Morgan, Jennifer E.
Publicado no Sci Rep (2016)

Exon Skipping and Gene Transfer Restore Dystrophin Expression in Human Induced Pluripotent Stem Cells-Cardiomyocytes Harboring DMD Mutations

Por Dick, Emily, Kalra, Spandan, Anderson, David, George, Vinoj, Ritso, Morten, Laval, Steven H., Barresi, Rita, Aartsma-Rus, Annemieke, Lochmüller, Hanns, Denning, Chris
Publicado em 2013

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

Por Chiu, Yen-Hui, Hornsey, Mark A., Klinge, Lars, Jørgensen, Louise H., Laval, Steven H., Charlton, Richard, Barresi, Rita, Straub, Volker, Lochmüller, Hanns, Bushby, Kate
Publicado em 2009

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

Por O’Connor, Emily, Töpf, Ana, Müller, Juliane S., Cox, Daniel, Evangelista, Teresinha, Colomer, Jaume, Abicht, Angela, Senderek, Jan, Hasselmann, Oswald, Yaramis, Ahmet, Laval, Steven H., Lochmüller, Hanns
Publicado no Brain (2016)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Por Cossins, Judith, Belaya, Katsiaryna, Hicks, Debbie, Salih, Mustafa A., Finlayson, Sarah, Carboni, Nicola, Liu, Wei Wei, Maxwell, Susan, Zoltowska, Katarzyna, Farsani, Golara Torabi, Laval, Steven, Seidhamed, Mohammed Zain, Donnelly, Peter, Bentley, David, McGowan, Simon J., Müller, Juliane, Palace, Jacqueline, Lochmüller, Hanns, Beeson, David
Publicado em 2013

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Por Hicks, Debbie, Sarkozy, Anna, Muelas, Nuria, Köehler, Katrin, Huebner, Angela, Hudson, Gavin, Chinnery, Patrick F., Barresi, Rita, Eagle, Michelle, Polvikoski, Tuomo, Bailey, Geraldine, Miller, James, Radunovic, Aleksander, Hughes, Paul J., Roberts, Richard, Krause, Sabine, Walter, Maggie C., Laval, Steven H., Straub, Volker, Lochmüller, Hanns, Bushby, Kate
Publicado em 2011

Dystrophin quantification: Biological and translational research implications

Por Anthony, Karen, Arechavala-Gomeza, Virginia, Taylor, Laura E., Vulin, Adeline, Kaminoh, Yuuki, Torelli, Silvia, Feng, Lucy, Janghra, Narinder, Bonne, Gisèle, Beuvin, Maud, Barresi, Rita, Henderson, Matt, Laval, Steven, Lourbakos, Afrodite, Campion, Giles, Straub, Volker, Voit, Thomas, Sewry, Caroline A., Morgan, Jennifer E., Flanigan, Kevin M., Muntoni, Francesco
Publicado no Neurology (2014)

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

Por Chaouch, Amina, Porcelli, Vito, Cox, Daniel, Edvardson, Shimon, Scarcia, Pasquale, De Grassi, Anna, Pierri, Ciro L., Cossins, Judith, Laval, Steven H., Griffin, Helen, Müller, Juliane S., Evangelista, Teresinha, Töpf, Ana, Abicht, Angela, Huebner, Angela, von der Hagen, Maja, Bushby, Kate, Straub, Volker, Horvath, Rita, Elpeleg, Orly, Palace, Jacqueline, Senderek, Jan, Beeson, David, Palmieri, Luigi, Lochmüller, Hanns
Publicado no J Neuromuscul Dis (2014)

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Por Senderek, Jan, Müller, Juliane S., Dusl, Marina, Strom, Tim M., Guergueltcheva, Velina, Diepolder, Irmgard, Laval, Steven H., Maxwell, Susan, Cossins, Judy, Krause, Sabine, Muelas, Nuria, Vilchez, Juan J., Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Steinlein, Ortrud K., Schlotter, Beate, Schoser, Benedikt, Kirschner, Janbernd, Herrmann, Ralf, Voit, Thomas, Oldfors, Anders, Lindbergh, Christopher, Urtizberea, Andoni, von der Hagen, Maja, Hübner, Angela, Palace, Jacqueline, Bushby, Kate, Straub, Volker, Beeson, David, Abicht, Angela, Lochmüller, Hanns
Publicado em 2011