Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent

por Wu, Chia-Yen, Gómez-Curet, Ilsa, Funanage, Vicky L, Scavina, Mena, Wang, Wenlan
Publicado 2009

A Mixed-Method Study Exploring Patient-Experienced and Caregiver-Reported Benefits and Side Effects of Corticosteroid Use in Duchenne Muscular Dystrophy

por Fischer, Ryan, Porter, Katherine, Donovan, Joanne M., Scavina, Mena T., Armstrong, Niki, Denger, Brian, Hasham, Shabir, Peay, Holly
Publicado 2023

Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

por Gruber, Dorota, Lloyd‐Puryear, Michele, Armstrong, Niki, Scavina, Mena, Tavakoli, Norma P., Brower, Amy M., Caggana, Michele, Chung, Wendy K.
Publicado 2022

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

por Stabley, Deborah L, Harris, Ashlee W, Holbrook, Jennifer, Chubbs, Nicholas J, Lozo, Kevin W, Crawford, Thomas O, Swoboda, Kathryn J, Funanage, Vicky L, Wang, Wenlan, Mackenzie, William, Scavina, Mena, Sol-Church, Katia, Butchbach, Matthew E R
Publicado 2015

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

por Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.
Publicado 2018

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

por Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Publicado 2009