Treating pediatric neuromuscular disorders: The future is now

por Dowling, James J., D. Gonorazky, Hernan, Cohn, Ronald D., Campbell, Craig
Publicado 2017

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy

por Al-Hashim, Aqeela, Gonorazky, Hernan D., Amburgey, Kimberly, Das, Soma, Dowling, James J.
Publicado 2017

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy

por Al Amrani, Fatema, Gorodetsky, Carolina, Hazrati, Lili-Naz, Amburgey, Kimberly, Gonorazky, Hernan D., Dowling, James J.
Publicado 2020

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

por Lee, Whiwon, Costain, Gregory, Blaser, Susan, Walker, Susan, Marshall, Christian R., Gonorazky, Hernan, Inbar-Feigenberg, Michal
Publicado 2020

Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly

por Qashqari, Hebah, Ramani, Arun, Gonorazky, Hernan, Amburgey, Kimberly, Ghahramani Seno, Mohammad M., Brudno, Michael, Naumenko, Sergey, Das, Soma, Dowling, James J.
Publicado 2021

Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era

por Al Amrani, Fatima, Amin, Reshma, Chiang, Jackie, Xiao, Lena, Boyd, Jennifer, Law, Eugenia, Nigro, Elisa, Weinstock, Lauren, Stosic, Ana, Gonorazky, Hernan D.
Publicado 2022

Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment

por Nigro, Elisa, Grunebaum, Eyal, Kamath, Binita, Licht, Christoph, Malcolmson, Caroline, Jeewa, Aamir, Campbell, Craig, McMillan, Hugh, Chakraborty, Pranesh, Tarnopolsky, Mark, Gonorazky, Hernan
Publicado 2023

Natural history of a mouse model of X-linked myotubular myopathy

por Sarikaya, Ege, Sabha, Nesrin, Volpatti, Jonathan, Pannia, Emanuela, Maani, Nika, Gonorazky, Hernan D., Celik, Alper, Liang, Yijng, Onofre-Oliveira, Paula, Dowling, James J.
Publicado 2022

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

por Sondheimer, Neal, Aleman, Alberto, Cameron, Jessie, Gonorazky, Hernan, Sabha, Nesrin, Oliveira, Paula, Amburgey, Kimberly, Wahedi, Azizia, Wang, Dahai, Shy, Michael, Dowling., James J.
Publicado 2023

Triple A syndrome presenting as complicated hereditary spastic paraplegia

por Leveille, Etienne, Gonorazky, Hernan D., Rioux, Marie‐France, Hazrati, Lili‐Naz, Ruskey, Jennifer A., Carnevale, Amanda, Spiegelman, Dan, Dionne‐Laporte, Alexandre, Rouleau, Guy A., Yoon, Grace, Gan‐Or, Ziv
Publicado 2018

RNAseq analysis for the diagnosis of muscular dystrophy

por Gonorazky, Hernan, Liang, Minggao, Cummings, Beryl, Lek, Monkol, Micallef, Johann, Hawkins, Cynthia, Basran, Raveen, Cohn, Ronald, Wilson, Michael D., MacArthur, Daniel, Marshall, Christian R., Ray, Peter N., Dowling, James J.
Publicado 2015

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

por Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.
Publicado 2019

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

por Chong, Jessica X., Childers, Matthew Carter, Marvin, Colby T., Marcello, Anthony J., Gonorazky, Hernan, Hazrati, Lili-Naz, Dowling, James J., Amrani, Fatema Al, Alanay, Yasemin, Nieto, Yolanda, Gabriel, Miguel Á Marín, Aylsworth, Arthur S., Buckingham, Kati J., Shively, Kathryn M., Sommers, Olivia, Anderson, Kailyn, Regnier, Michael, Bamshad, Michael J.
Publicado 2023

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

por Chong, Jessica X., Childers, Matthew Carter, Marvin, Colby T., Marcello, Anthony J., Gonorazky, Hernan, Hazrati, Lili-Naz, Dowling, James J., Al Amrani, Fatema, Alanay, Yasemin, Nieto, Yolanda, Gabriel, Miguel Á Marín, Aylsworth, Arthur S., Buckingham, Kati J., Shively, Kathryn M., Sommers, Olivia, Anderson, Kailyn, Regnier, Michael, Bamshad, Michael J.
Publicado 2023

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