Bibliotecas PUC-SP - Busca Integrada

Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations

Por Susan Perlman, Mathieu Anheim, Sylvia Boesch, James H. Lewis, David R. Lynch
Publicado no Neurology and Therapy (2025-06-01)

Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study

Por Christian Rummey, Susan Perlman, Sub. H. Subramony, Jennifer Farmer, David R. Lynch
Publicado no Annals of Clinical and Translational Neurology (2024-05-01)

Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.

Por Marissa Z McMackin, Blythe Durbin-Johnson, Marek Napierala, Jill S Napierala, Luis Ruiz, Eleonora Napoli, Susan Perlman, Cecilia Giulivi, Gino A Cortopassi
Publicado no PLoS ONE (2019-01-01)

Video-Based Kinematic Analysis of Movement Quality in a Phase 3 Clinical Trial of Troriluzole in Adults with Spinocerebellar Ataxia: A Post Hoc Analysis

Por Gilbert J. L’Italien, Evangelos K. Oikonomou, Rohan Khera, Michele H. Potashman, Melissa W. Beiner, Grant D. H. Maclaine, Jeremy D. Schmahmann, Susan Perlman, Vladimir Coric
Publicado no Neurology and Therapy (2024-05-01)

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

Por David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer
Publicado no Annals of Clinical and Translational Neurology (2024-01-01)

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort

Por Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Publicado no Annals of Clinical and Translational Neurology (2021-06-01)

Vascular Risk Factors and Clinical Progression in Spinocerebellar Ataxias

Por Raymond Y. Lo, Karla P. Figueroa, Stefan M. Pulst, Chi-Ying Lin, Susan Perlman, George Wilmot, Christopher M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S S. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
Publicado no Tremor and Other Hyperkinetic Movements (2015-02-01)

Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia

Por Michele Potashman, Katja Rudell, Naomi Suminski, Rinchen Doma, Maggie Heinrich, Linda Abetz-Webb, Melissa Wolfe Beiner, Vlad Coric, Liana S. Rosenthal, Sheng-Han Kuo, Theresa Zesiewicz, Terry D. Fife, Bart van de Warrenburg, Giovanni Ristori, Matthis Synofzik, Sub Subramony, Susan Perlman, Jeremy D. Schmahmann, Gil L’Italien
Publicado no Neurology and Therapy (2025-01-01)

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

Por Shi-Rui Gan, Jie Wang, Karla P. Figueroa, Stefan M. Pulst, Darya Tomishon, Danielle Lee, Susan Perlman, George Wilmot, Christopher ‎ M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikramq G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D. Geschwind, Guangbin Xia, S. H. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
Publicado no Tremor and Other Hyperkinetic Movements (2017-10-01)

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

Por Layne N. Rodden, Christian Rummey, Yi Na Dong, Sarah Lagedrost, Sean Regner, Alicia Brocht, Khalaf Bushara, Martin B. Delatycki, Christopher M. Gomez, Katherine Mathews, Sarah Murray, Susan Perlman, Bernard Ravina, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Alessandra Bolotta, Alain Domissy, Christine Jespersen, Baohu Ji, Elisabetta Soragni, Joel M. Gottesfeld, David R. Lynch
Publicado no Frontiers in Molecular Biosciences (2022-09-01)

Safety and Tolerability of SRX246, a Vasopressin 1a Antagonist, in Irritable Huntington’s Disease Patients—A Randomized Phase 2 Clinical Trial

Por Michael J. Brownstein, Neal G. Simon, Jeffrey D. Long, Jon Yankey, Hilda T. Maibach, Merit Cudkowicz, Christopher Coffey, Robin A. Conwit, Codrin Lungu, Karen E. Anderson, Steven M. Hersch, Dixie J. Ecklund, Eve M. Damiano, Debra E. Itzkowitz, Shifang Lu, Marianne K. Chase, Jeremy M. Shefner, Andrew McGarry, Brenda Thornell, Catherine Gladden, Michele Costigan, Padraig O’Suilleabhain, Frederick J. Marshall, Amy M. Chesire, Paul Deritis, Jamie L. Adams, Peter Hedera, Kelly Lowen, H. Diana Rosas, Amie L. Hiller, Joseph Quinn, Kellie Keith, Andrew P. Duker, Christina Gruenwald, Angela Molloy, Cara Jacob, Stewart Factor, Elaine Sperin, Danny Bega, Zsazsa R. Brown, Lauren C. Seeberger, Victor W. Sung, Melanie Benge, Sandra K. Kostyk, Allison M. Daley, Susan Perlman, Valerie Suski, Patricia Conlon, Matthew J. Barrett, Stephanie Lowenhaupt, Mark Quigg, Joel S. Perlmutter, Brenton A. Wright, Elaine Most, Guy J. Schwartz, Jessica Lamb, Rosalind S. Chuang, Carlos Singer, Karen Marder, Joyce A. Moran, John R. Singleton, Meghan Zorn, Paola V. Wall, Richard M. Dubinsky, Carolyn Gray, Carolyn Drazinic
Publicado no Journal of Clinical Medicine (2020-11-01)