Below are the most recent publications written about "Ataxia" by people in Profiles.
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Biglari S, Nikuei P, Mir A, Vahidnezhad H, Youssefian L, Moghaddam AS, Tabatabaiefar MA, Saeidian AH, Khorram E, Fard MAF, Farbood Z, Shahrooei M, Khorshid HRK, Esmaeilzadeh E. Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clin Genet. 2025 03; 107(3):366-368.
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Reoli R, Therrien A, Millar J, Hill N, Varghese R, Roemmich R, Whitall J, Bastian A, Keller J. The Scale for Assessment and Rating of Ataxia Is Reliable and Valid in the Telehealth Setting for Patients With Cerebellar Ataxia. Phys Ther. 2024 03 01; 104(3).
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Feng H, Clatot J, Kaneko K, Flores-Mendez M, Wengert ER, Koutcher C, Hoddeson E, Lopez E, Lee D, Arias L, Liang Q, Zhang X, Somarowthu A, Covarrubias M, Gunthorpe MJ, Large CH, Akizu N, Goldberg EM. Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy. Cell Rep Med. 2024 02 20; 5(2):101389.
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Kerr LM, Ryan ME, Lim M, Hearn S, Klein A, Deiva K, Hopkins SE, Bacchus MK, Sokol EA, Waanders AJ, Mitchell WG, Khakoo Y, Lotze TE, Zhang B, Gorman MP. An International Pediatric-Onset Opsoclonus-Myoclonus Ataxia Syndrome Registry and Clinical Research Network: Development, Progress, and Vision. Pediatr Neurol. 2023 11; 148:145-147.
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Bacchus MK, Anderson DS, Berko ER, States LJ, Bagatell R, Hopkins SE, Batra V. Neuroblastic Tumor Recurrence Associated With Opsoclonus Myoclonus Ataxia Syndrome Relapse a Decade After Initial Resection and Treatments. J Pediatr Hematol Oncol. 2023 04 01; 45(3):152-154.
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Pereira FB, Soares Dutra Oliveira H, Lima VC, Lima LH, Balaratnasingam C, Pulido JS, Cunha de Souza E. RETINAL HEMORRHAGES IN A PATIENT WITH ACUTE ATAXIA. Retin Cases Brief Rep. 2021 Sep 01; 15(Suppl 1):S32-S34.
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Sallum JMF, Filho FMR, Pedroso JL, Goldbaum M, Barsottini OGP, Lima LH, Balaratnasingam C, Pulido JS, Cunha de Souza E. ASYMPTOMATIC RETINAL NERVE FIBER LAYER THICKENING IN A PATIENT WITH ATAXIA. Retin Cases Brief Rep. 2021 Sep 01; 15(Suppl 1):S7-S10.
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Miranda M, Harmuth F, Bustamante ML, Rossi M, Sturm M, Magnusson ?T, Bauer P, Klockgether T, Ramirez A. Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia. Parkinsonism Relat Disord. 2020 12; 81:45-47.
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Barot N, Margiotta M, Nei M, Skidmore C. Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature. Epileptic Disord. 2020 Oct 01; 22(5):654-658.
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Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S, Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhani S, Segal D, Au M, Graham JM, Verma S, Waggoner D, Shinawi M, B?nnemann CG, Chung WK, Chinnadurai G. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019 08; 20(3):129-143.