Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review

por Mugisha, Nancy, Oliveira-Carneiro, Andrea, Behlim, Tarannum, Oskoui, Maryam
Publicado 2023

NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test

por Mirchi, Amytice, Richer, Julie, Oskoui, Maryam, McMillan, Hugh J.
Publicado 2022

Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA

por Mouchet, Julie, Roumpanis, Spyros, Gaki, Eleni, Lipnick, Scott, Oskoui, Maryam, Scalco, Renata S., Darras, Basil T.
Publicado 2023

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

por Derksen, Alexa, Mirchi, Amytice, Tran, Luan T., Cao-Lei, Lei, Oskoui, Maryam, Srour, Myriam, Poulin, Chantal, Bernard, Geneviève
Publicado 2021

Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures

por Aponte Ribero, Valerie, Martí, Yasmina, Batson, Sarah, Mitchell, Stephen, Gorni, Ksenija, Gusset, Nicole, Oskoui, Maryam, Servais, Laurent, Sutherland, C. Simone
Publicado 2023

Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era

por Walter, Maggie C., Chiriboga, Claudia, Duong, Tina, Goemans, Nathalie, Mayhew, Anna, Ouillade, Laëtitia, Oskoui, Maryam, Quinlivan, Ros, Vázquez-Costa, Juan F., Vissing, John, Servais, Laurent
Publicado 2021

Global prevalence of cerebral palsy: A systematic analysis

por McIntyre, Sarah, Goldsmith, Shona, Webb, Annabel, Ehlinger, Virginie, Hollung, Sandra Julsen, McConnell, Karen, Arnaud, Catherine, Smithers‐Sheedy, Hayley, Oskoui, Maryam, Khandaker, Gulam, Himmelmann, Kate
Publicado 2022

Development and Validation of a Prediction Model for Perinatal Arterial Ischemic Stroke in Term Neonates

por Srivastava, Ratika, Dunbar, Mary, Shevell, Michael, Oskoui, Maryam, Basu, Anna, Rivkin, Michael John, Shany, Eilon, de Vries, Linda S., Dewey, Deborah, Letourneau, Nicole, Hill, Michael D., Kirton, Adam
Publicado 2022

SIGnature Libraries: A roadmap for the formation of special interest group libraries

por Kim, Young-Min, Chin, Eric M., Fahey, Michael, Gelineau-Morel, Rose, Himmelmann, Kate, O’Malley, Jennifer, Oskoui, Maryam, Shapiro, Bruce, Shevell, Michael, Wilson, Jenny L., Wiznitzer, Max, Aravamuthan, Bhooma
Publicado 2023

Clinically relevant copy number variations detected in cerebral palsy

por Oskoui, Maryam, Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Andersen, John, Wei, John, Wang, Zhuozhi, Wintle, Richard F., Marshall, Christian R., Cohn, Ronald D., Weksberg, Rosanna, Stavropoulos, Dimitri J., Fehlings, Darcy, Shevell, Michael I., Scherer, Stephen W.
Publicado 2015

Neurofilament as a potential biomarker for spinal muscular atrophy

por Darras, Basil T., Crawford, Thomas O., Finkel, Richard S., Mercuri, Eugenio, De Vivo, Darryl C., Oskoui, Maryam, Tizzano, Eduardo F., Ryan, Monique M., Muntoni, Francesco, Zhao, Guolin, Staropoli, John, McCampbell, Alexander, Petrillo, Marco, Stebbins, Christopher, Fradette, Stephanie, Farwell, Wildon, Sumner, Charlotte J.
Publicado 2019

Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)

por Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, Mercuri, Eugenio
Publicado 2023

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

por Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, Mercuri, Eugenio
Publicado 2023

Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

por Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, Day, John W.
Publicado 2021

A National Spinal Muscular Atrophy Registry for Real-World Evidence

por Hodgkinson, Victoria L., Oskoui, Maryam, Lounsberry, Joshua, M’Dahoma, Saïd, Butler, Emily, Campbell, Craig, MacKenzie, Alex, McMillan, Hugh J., Simard, Louise, Vajsar, Jiri, Brais, Bernard, Chapman, Kristine M., Chrestian, Nicolas, Crone, Meghan, Dobrowolski, Peter, Dojeiji, Susan, Dowling, James J., Dupré, Nicolas, Genge, Angela, Gonorazky, Hernan, Hasal, Simona, Izenberg, Aaron, Johnston, Wendy, Leung, Edward, Lochmüller, Hanns, Mah, Jean K., Marerro, Alier, Massie, Rami, McAdam, Laura, McCormick, Anna, Melanson, Michel, Mezei, Michelle M., Nguyen, Cam-Tu E., O’Connell, Colleen, O’Ferrall, Erin K., Pfeffer, Gerald, Phan, Cecile, Plamondon, Stephanie, Poulin, Chantal, Rodrigue, Xavier, Schellenberg, Kerri L., Selby, Kathy, Sheriko, Jordan, Shoesmith, Christen, Smith, Garth, Taillon, Monique, Taylor, Sean, Warman Chardon, Jodi, Worley, Scott, Korngut, Lawrence
Publicado 2020

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

por Allen, Nicholas M, O’Rahelly, Mark, Eymard, Bruno, Chouchane, Mondher, Hahn, Andreas, Kearns, Gerry, Kim, Dae-Seong, Byun, Shin Yun, Nguyen, Cam-Tu Emilie, Schara-Schmidt, Ulrike, Kölbel, Heike, Marina, Adela Della, Schneider-Gold, Christiane, Roefke, Kathryn, Thieme, Andrea, Van den Bergh, Peter, Avalos, Gloria, Álvarez-Velasco, Rodrigo, Natera-de Benito, Daniel, Cheng, Man Hin Mark, Chan, Wing Ki, Wan, Hoi Shan, Thomas, Mary Ann, Borch, Lauren, Lauzon, Julie, Kornblum, Cornelia, Reimann, Jens, Mueller, Andreas, Kuntzer, Thierry, Norwood, Fiona, Ramdas, Sithara, Jacobson, Leslie W, Jie, Xiaobo, Fernandez-Garcia, Miguel A, Wraige, Elizabeth, Lim, Ming, Lin, Jean Pierre, Claeys, Kristl G, Aktas, Selma, Oskoui, Maryam, Hacohen, Yael, Masud, Ameneh, Leite, M Isabel, Palace, Jacqueline, De Vivo, Darryl, Vincent, Angela, Jungbluth, Heinz
Publicado 2023