Selected Publications
D R Lynch, T Rojsajjakul, S. H. Subramony, S L. Perlman, M Keita, C Mesaros, IA. Blair: Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort
J Neurology 271 (4): 1844-1849.,2024.
Yi Na Dong, Lucie V Ngaba, Jacob An, Miniat W Adeshina, Nathan Warren, Jonathan Wong, David R Lynch: A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models Frontiers in Pharmacology-Neuropharmacology 15 (1): 1352311,2024.
Xu, Y., Song, R., Perszyk, R.E., Chen, W., Kim, S., Park, K., Allen, J.P., Nocilla, K.A., Zhang, J., XiangWei, W., Tankovic, A., McDaniels, E.D., Sheikh, R., Mizu, R.K., Karamchandani, M.M., Hu, C., Kusumoto, H., Pecha, J., Cappuccio, G., Gaitanis, J., Sullivan, J., Shashi, V., Petrovski, S., Jauss, R.-T., Lee, H.K., Bozarth, X., Lynch, D.R., Helbig, I., Pierson, T.M., Boerkoel, C.F., Myers, S.J., Lemke, J.R., Benke, T.A., Yuan, H., Traynelis, S.F.: De novo GRIN variants in M3 helix associated with neurological
disorders control channel gating of NMDA receptor Cellular and Molecular Life Sciences 81 (1): 153.,2024.
Lynch, D., Goldsberry, A., Rummey, C., Farmer, J., Boesch, S., Delatycki, ., Giunti, P., Hoyle, C., Mariotti, C., Mathews, K., Nachbauer, W., Perlman, S., Subramony, S., Wilmot, G., Zesiewiecz, T., Weissfeld, L., Meyer, C.: Propensity matched comparison of Omaveloxolone treatment to Friedreich ataxia natural history data Annals of Clinical and Translational Neurology 11 (1): 4-16.,2024.
Chang, J.C., Ryan, M.R., Stark, M.C., Liu, S., Purushothaman, P., Bolan, F., Johnson, C.A., Champe, M., Meng, H., Lawlor, M.W., Halawani, S., Ngaba, L.V., Lynch, D.R., Davis, C., Gonzalo-Gil, E., Lutz, C., Urbinati, F., Medicherla, B., Fonck, C.: AAV8 Gene Therapy Reverses Cardiac Pathology and Prevents Early Mortality in a Mouse Model of Friedreich’s Ataxia Molecular Therapy Methods & Clinical Development 32 (1): 101193.,2024.
Lynch, D.R., Subramony, S.H., Lin, K.Y., Mathews, K., Perlman, S., Yoon, G., Rummey, C.: Characterization of cardiac-onset initial presentation in Friedreich Ataxia Pediatric Cardiology. : 2024.
Rummey, C, Subramony, SH, Perlman, SL, Farmer, JM, Lynch, DR: Clinical research measures in children with Friedreich Ataxia:The FA-CHILD Study Annals of Clinical and Translational Neurology : 2024.
O'Brien, Elizabeth M; Lin, Kimberly Y; Lynch, David; Baldwin, Keith; Profeta, Victoria R; Flynn, John; Muhly, Ty T; Muhly, Ty T: Perioperative Management and Outcomes for Posterior Spinal Fusion in Patients with Friedreich Ataxia: A Single-Center, Retrospective Study Pediatric Anesthesia : 2024.
Shen, M, Rummey, C, Lynch, D R: Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort Annals of Clinical and Translational Neurology : 2024.
Cilenti, N A, Tamaroff, J G, Capiola, J G, Faig, W, McBride, M G, Paridon, S M, O’Malley, S, Edelson, J B, Lynch, D R, McCormack, S E, Lin, K Y: Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich Ataxia Muscle Nerve : 2024.
Academic Contact Information
502 Abramson Center
Children's Hospital of Philadelphia
Philadelphia,
PA
19104
Phone: 215-590-2242
Patient appointments: 800-789-7366