Bibliotecas PUC-SP - Busca Integrada

Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.

מאת John C Middlebrooks, Harry S Nick, S H Subramony, Joel Advincula, Raymond L Rosales, Lillian V Lee, Tetsuo Ashizawa, Michael F Waters
הוצא לאור ב PLoS ONE (2013-01-01)

Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology

מאת Amanda N. Sacino, Stefan Prokop, Meggen A. Walsh, Jennifer Adamson, S. H. Subramony, Amy Krans, Peter K. Todd, Benoit I. Giasson, Anthony T. Yachnis
הוצא לאור ב Acta Neuropathologica Communications (2019-10-01)

Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood

מאת Łukasz J. Sznajder, Marina M. Scotti, Jihae Shin, Katarzyna Taylor, Franjo Ivankovic, Curtis A. Nutter, Faaiq N. Aslam, S. H. Subramony, Laura P. W. Ranum, Maurice S. Swanson
הוצא לאור ב Nature Communications (2020-04-01)

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

מאת David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns
הוצא לאור ב Annals of Clinical and Translational Neurology (2025-09-01)

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

מאת 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
הוצא לאור ב Annals of Clinical and Translational Neurology (2024-01-01)

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

מאת 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
הוצא לאור ב Tremor and Other Hyperkinetic Movements (2017-10-01)

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

מאת 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
הוצא לאור ב Frontiers in Molecular Biosciences (2022-09-01)