21. P0222KIDNEY EFFECTS IN THE MOXIE TRIAL: A STUDY OF OMAVELOXOLONE IN PATIENTS WITH FRIEDRICH'S ATAXIA. (6th June 2020) Authors: Zaoui, Philippe; Chin, Melanie; Delatycki, Martin; Giunti, Paola; Goldsberry, Angie; Meyer, Colin; O'Grady, Megan; Perlman, Susan; Subramony, S H; Zesiewicz, Theresa; Lynch, David Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. (22nd May 2018) Authors: Nachun, Daniel; Gao, Fuying; Isaacs, Charles; Strawser, Cassandra; Yang, Zhongan; Dokuru, Deepika; Van Berlo, Victoria; Sears, Renee; Farmer, Jennifer; Perlman, Susan; Lynch, David R; Coppola, Giovanni Journal: Human molecular genetics Issue: Volume 27:Number 17(2018:Sep. 01) Page Start: 2965 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias. (9th October 2017) Authors: Gan, Shi-Rui; Wang, Jie; Figueroa, Karla P.; Pulst, Stefan M.; Tomishon, Darya; Lee, Danielle; Perlman, Susan; Wilmot, George; Gomez, Christopher M.; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram G.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D.; Xia, Guangbi... Editors: Louis, Elan D. Journal: Tremor and other hyperkinetic movements Issue: Volume 7(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort. (June 2020) Authors: Aboud Syriani, Dona; Wong, Darice; Andani, Sameer; De Gusmao, Claudio M.; Mao, Yuanming; Sanyoura, May; Glotzer, Giacomo; Lockhart, Paul J.; Hassin-Baer, Sharon; Khurana, Vikram; Gomez, Christopher M.; Perlman, Susan; Das, Soma; Fogel, Brent L. Journal: Neurology Issue: Volume 6:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Prevalence of spinocerebellar ataxia 36 in a US population. (August 2017) Authors: Valera, Juliana M.; Diaz, Tatyana; Petty, Lauren E.; Quintáns, Beatriz; Yáñez, Zuleima; Boerwinkle, Eric; Muzny, Donna; Akhmedov, Dmitry; Berdeaux, Rebecca; Sobrido, Maria J.; Gibbs, Richard; Lupski, James R.; Geschwind, Daniel H.; Perlman, Susan; Below, Jennifer E.; Fogel, Brent L. Journal: Neurology Issue: Volume 3:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Progression of Friedreich ataxia: quantitative characterization over 5 years. Issue 9 (25th July 2016) Authors: Patel, Maya; Isaacs, Charles J.; Seyer, Lauren; Brigatti, Karlla; Gelbard, Sarah; Strawser, Cassandra; Foerster, Debbie; Shinnick, Julianna; Schadt, Kimberly; Yiu, Eppie M.; Delatycki, Martin B.; Perlman, Susan; Wilmot, George R.; Zesiewicz, Theresa; Mathews, Katherine; Gomez, Christopher M.; Yoo... Journal: Annals of clinical and translational neurology Issue: Volume 3:Issue 9(2016) Page Start: 684 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. Randomized, double‐blind, placebo‐controlled study of interferon‐γ 1b in Friedreich Ataxia. Issue 3 (27th February 2019) Authors: Lynch, David R.; Hauser, Lauren; McCormick, Ashley; Wells, McKenzie; Dong, Yi Na; McCormack, Shana; Schadt, Kim; Perlman, Susan; Subramony, Sub H.; Mathews, Katherine D.; Brocht, Alicia; Ball, Julie; Perdok, Renee; Grahn, Amy; Vescio, Tom; Sherman, Jeffrey W.; Farmer, Jennifer M. Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 3(2019) Page Start: 546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Romiplostim mitigates dose‐limiting thrombocytopenia of erucic acid for adrenomyeloneuropathy. (8th April 2015) Authors: Shin, Daniel Sanghoon; Perlman, Susan; Rosove, Michael H. Journal: British journal of haematology Issue: Volume 171:Number 5(2015:Dec.) Page Start: 879 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study). Issue 2 (5th November 2020) Authors: Lynch, David R.; Chin, Melanie P.; Delatycki, Martin B.; Subramony, S. H.; Corti, Manuela; Hoyle, J. Chad; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Mathews, Katherine D.; Giunti, Paola; Wilmot, George; Zesiewicz, Theresa; Perlman, Susan; Goldsberry, Angie; O'Grady, Megan; Meyer, C... Journal: Annals of neurology Issue: Volume 89:Issue 2(2021) Page Start: 212 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia. Issue 1 (10th November 2018) Authors: Lynch, David R.; Farmer, Jennifer; Hauser, Lauren; Blair, Ian A.; Wang, Qing Qing; Mesaros, Clementina; Snyder, Nathaniel; Boesch, Sylvia; Chin, Melanie; Delatycki, Martin B.; Giunti, Paola; Goldsberry, Angela; Hoyle, Chad; McBride, Michael G.; Nachbauer, Wolfgang; O'Grady, Megan; Perlman, Susan;... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 1(2019) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗