Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio

Authors: Waldrop, Megan A, Chagat, Shannon, Storey, Michael, Meyer, Alayne, Iammarino, Megan, Reash, Natalie, Alfano, Lindsay, Lowes, Linda, Noritz, Garey, Prochoroff, Andre, Rossman, Ian, Ginsberg, Matthew, Mosher, Kathryn, Broomall, Eileen, Bass, Nancy, Gushue, Courtney, Kotha, Kavitha, Paul, Grace, Shell, Richard, Tsao, Chang-Yong, Mendell, Jerry R., Connolly, Anne M.

Source: In Neuromuscular Disorders January 2024 34:41-48

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes

Authors: Meyer, Alayne P., Forrest, Megan E., Nicolau, Stefan, Wiszniewski, Wojciech, Bland, Mary Pat, Tsao, Chang‐Yong, Antonellis, Anthony, Abreu, Nicolas J.

Source: Human mutation. 43(7):869-876

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153791645.0x000001&indx=1&recIds=ETOCvdc_100153791645.0x000001

Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single‐Center Experience.

Authors: Bekircan‐Kurt, Can Ebru, Subramanian, Sharmada, Chagat, Shannon, Mackenzie, Samuel J., Iammarino, Megan, Reash, Natalie, Richardson, Carson, Tsao, Chang‐Yong, Noritz, Garey, Gushue, Courtney, Kotha, Kavitha, Paul, Grace, Shell, Richard, Alfano, Lindsay N., Lowes, Linda P., Connolly, Anne M., Waldrop, Megan A.

Source: Muscle & Nerve; Mar2025, Vol. 71 Issue 3, p414-421, 8p

Validity and Reliability of the Neuromuscular Gross Motor Outcome

Authors: Alfano, Lindsay N., Iammarino, Megan A., Reash, Natalie F., Powers, Brenna R., Shannon, Kiana, Connolly, Anne M., Waldrop, Megan A., Noritz, Garey H., Shell, Richard, Tsao, Chang-Yong, Flanigan, Kevin M., Mendell, Jerry R., Lowes, Linda P.

Source: In Pediatric Neurology September 2021 122:21-26

Gross motor delays in infants and young boys with Duchenne muscular dystrophy.

Authors: Lowes, Linda P., Reash, Natalie F., Iammarino, Megan A., Connolly, Anne M., Pietruszewski, Lindsay, Smith, Melissa A., Peng, Jing, Steiner, Christopher L., Tsao, Chang-Yong, Waldrop, Megan A., Flanigan, Kevin M., Chagat, Shannon, Meyer, Alayne P., Mendell, Jerry R., Alfano, Lindsay N.

Source: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 6, p1260-1267, 8p

Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests

Authors: Miller, Natalie F., Alfano, Lindsay N., Iammarino, Megan A., Connolly, Anne M., Moore-Clingenpeel, Melissa, Powers, Brenna R., Tsao, Chang-Yong, Waldrop, Megan A., Flanigan, Kevin M., Mendell, Jerry R., Lowes, Linda P.

Source: In Pediatric Neurology December 2020 113:15-20

ACTIVE (Ability Captured Through Interactive Video Evaluation) workspace volume video game to quantify meaningful change in spinal muscular atrophy

Authors: Alfano, Lindsay N, Miller, Natalie F, Iammarino, Megan A, Moore Clingenpeel, Melissa, Lowes, Suzanne L, Dugan, Margaret E, Kissel, John T, Al Zaidy, Samiah, Tsao, Chang‐Yong, Lowes, Linda P

Source: Developmental medicine & child neurology. 62(3):303-309

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103196288.0x000001&indx=1&recIds=ETOCvdc_100103196288.0x000001

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic

Authors: Waldrop, Megan, Pastore, Matthew, Schrader, Rachel, Sites, Emily, Bartholomew, Dennis, Tsao, Chang-Yong, Flanigan, Kevin

Source: Neuropediatrics. 50(2):096-102

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186411382.0x000001&indx=1&recIds=ETOCvdc_100186411382.0x000001

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

Authors: Anselm, Irina, Collins, Abigail, Cohen, Bruce H., DeBrosse, Suzanne D., Dimmock, David, Falk, Marni J., Ganesh, Jaya, Greene, Carol, Gropman, Andrea L., Haas, Richard, Kahler, Stephen G., Kamholz, John, Kendall, Fran, Korson, Mark S., Mattman, Andre, Milone, Margherita, Niyazov, Dmitriy, Pearl, Phillip L., Reimschisel, Tyler, Salvarinova-Zivkovic, Ramona, Sims, Katherine, Tarnopolsky, Mark, Tsao, Chang-Yong, van Hove, Johan, Walsh, Laurence, Wolfe, Lynne A., Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell

Source: In Mitochondrion January 2014 14:26-33

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

Authors: Anselm, Irina, Collins, Abigail, Cohen, Bruce H., DeBrosse, Suzanne D., Dimmock, David, Falk, Marni J., Ganesh, Jaya, Greene, Carol, Gropman, Andrea L., Haas, Richard, Kahler, Stephen G., Kamholz, John, Kendall, Fran, Korson, Mark S., Mattman, Andre, Milone, Margherita, Niyazov, Dmitriy, Pearl, Phillip L., Reimschisel, Tyler, Salvarinova-Zivkovic, Ramona, Sims, Katherine, Tarnopolsky, Mark, Tsao, Chang-Yong, van Hove, Johan, Walsh, Laurence, Wolfe, Lynne A., Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell

Source: In Mitochondrion November 2013 13(6):681-687

Childhood Onset of Limb-Girdle Muscular Dystrophy

Authors: Rosales, Xiomara Q., Tsao, Chang-Yong

Source: In Pediatric Neurology 2012 46(1):13-23

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children

Authors: Tsao, Chang-Yong

Source: Pediatric neurology. 54:85-87

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100060625672.0x000001&indx=1&recIds=ETOCvdc_100060625672.0x000001

Infantile encephalopathy associated with the MELAS A3243G mutation

Authors: Sue, Carolyn M., Bruno, Claudio, Andreu, Antonio L., Cargan, Abba, Mendell, Jerry R., Tsao, Chang-Yong, Luquette, Mark, Paolicchi, Juliann, Shanske, Sara, DiMauro, Salvatore, De Vivo, Darryl C.

Source: In The Journal of Pediatrics 1999 134(6):696-700

Cerebellar Ataxia, Vertical Supranuclear Gaze Palsy, Sensorineural Deafness, Epilepsy, Dementia, and Hallucinations in an Adolescent Male

Authors: Tsao, Chang-Yong

Source: In Seminars in Pediatric Neurology June 2014 21(2):106-108

Hypotonia, Weakness, and Pontocerebellar Hypoplasia in Siblings

Authors: Tsao, Chang-Yong, Mendell, Jerry, Sahenk, Zarife, Rusin, Jerome, Boue, Daniel

Source: In Seminars in Pediatric Neurology 2008 15(4):151-153

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