Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study ‌ Christian Rummey, Susan Perlman, Sub. H. Subramony, Jennifer Farmer, David R. Lynch

Ստացեք ամբողջական տեքստը

Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion. ‌ Marissa Z McMackin, Blythe Durbin-Johnson, Marek Napierala, Jill S Napierala, Luis Ruiz, Eleonora Napoli, Susan Perlman, Cecilia Giulivi, Gino A Cortopassi

Ստացեք ամբողջական տեքստը

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

Ստացեք ամբողջական տեքստը

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

Ստացեք ամբողջական տեքստը

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

Ստացեք ամբողջական տեքստը

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias ‌ 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

Ստացեք ամբողջական տեքստը

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

Ստացեք ամբողջական տեքստը