Academic literature on the topic 'Friedreich's ataxia'
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Journal articles on the topic "Friedreich's ataxia"
Ahmed, Ahmed Hasan. "Vitamin E Level In Friedreich’s Ataxic Phenotype Patients In Four Major Hospitals In Baghdad." AL-Kindy College Medical Journal 13, no. 1 (2019): 132–36. http://dx.doi.org/10.47723/kcmj.v13i1.143.
Full textFomicheva, E. I., R. P. Myasnikov, Y. A. Selivyorstov, S. N. Illarioshkin, E. L. Dadali, and O. M. Drapkina. "Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic." Rational Pharmacotherapy in Cardiology 17, no. 1 (2021): 105–10. http://dx.doi.org/10.20996/1819-6446-2021-01-05.
Full textLinnemann, C., M. Synofzik, and L. Schols. "Friedreich's ataxia." Drugs of the Future 33, no. 7 (2008): 607. http://dx.doi.org/10.1358/dof.2008.033.07.1228844.
Full textPearce, J. M. S. "Friedreich's ataxia." Journal of Neurology, Neurosurgery & Psychiatry 75, no. 5 (2004): 688. http://dx.doi.org/10.1136/jnnp.2003.022681.
Full textKania, Krzysztof, Joanna Kania, Karolina Niekurzak, Maciej Jędrak, Maciej Józefiak, and Piotr Sobkiewicz. "FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review." Journal of Education, Health and Sport 40, no. 1 (2023): 111–26. http://dx.doi.org/10.12775/jehs.2023.40.01.010.
Full textKrishna, Charan G. Prashant Kumar Verma* Sachin Kumar Rahul Karthik Ashwin Dalal. "Case Report: Friedrich Ataxia Friedreich's Ataxia's Paradigm in Nuclear Family in Northern India." International Clinical and Medical Case Reports Journal 3, no. 8 (2024): 1–5. https://doi.org/10.5281/zenodo.13316999.
Full textPicher-Martel, Vincent, and Nicolas Dupre. "Current and Promising Therapies in Autosomal Recessive Ataxias." CNS & Neurological Disorders - Drug Targets 17, no. 3 (2018): 161–71. http://dx.doi.org/10.2174/1871527317666180419115029.
Full textWOOD, N. W. "Diagnosing Friedreich's ataxia." Archives of Disease in Childhood 78, no. 3 (1998): 204–7. http://dx.doi.org/10.1136/adc.78.3.204.
Full textSCHWARTZ, IDA V. D., LAURA B. JARDIM, ANA C. S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, and LUCIANE C. LIMA. "Clinical and molecular studies in five Brazilian cases of Friedreich ataxia." Arquivos de Neuro-Psiquiatria 57, no. 1 (1999): 1–5. http://dx.doi.org/10.1590/s0004-282x1999000100001.
Full textSeabury, Jamison, Spencer Rosero, Anika Varma, et al. "Friedreich's Ataxia-Health Index." Neurology: Clinical Practice 13, no. 5 (2023): e200180. http://dx.doi.org/10.1212/cpj.0000000000200180.
Full textDissertations / Theses on the topic "Friedreich's ataxia"
Blaney, Bronagh Elizabeth. "Dysarthria and Friedreich's ataxia." Thesis, University of Ulster, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.403631.
Full textSherzai, Mursal. "Investigating novel therapies for Friedreich's ataxia." Thesis, Brunel University, 2018. http://bura.brunel.ac.uk/handle/2438/16971.
Full textBecker, Erika Michelle. "The role of frataxin in mitochondrial iron and haem metabolism and the development of iron chelators as potential therapeutic agents for the treatment of Friedreich's ataxia /." St. Lucia, Qld, 2002. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe16904.pdf.
Full textWilkes, David Charles. "Molecular analysis of the Friedreich's ataxia locus." Thesis, Imperial College London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.309737.
Full textRothe, Nadine. "Gene regulation and epigenotype in Friedreich's ataxia." Thesis, Imperial College London, 2008. http://hdl.handle.net/10044/1/1305.
Full textSilva, Cynthia Bonilha da 1981. "Estudo longitudinal clínico e de imagem na ataxia de Friedreich = Longitudinal clinical and neuroimaging study in Friedreich's ataxia." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312860.
Full textHayes, Sean I. A. "Genetic and molecular investigation of the spinocerebellar ataxias." Thesis, McGill University, 1999. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=30665.
Full textYandim, Cihangir. "Heterochromatin effects in Friedreich's ataxia and sexual dimorphism." Thesis, Imperial College London, 2012. http://hdl.handle.net/10044/1/9644.
Full textMarmolino, Daniele. "Alterations of mitochondrial biogenesis and alterations of mitochondrial antioxidant defense in Friedreich's ataxia." Doctoral thesis, Universite Libre de Bruxelles, 2011. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/209972.
Full textAhern, Alan James. "Generating a conditional knockout mouse model for Friedreich's ataxia." Thesis, Imperial College London, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.394939.
Full textBooks on the topic "Friedreich's ataxia"
National Institute of Neurological Disorders and Stroke (U.S.), ed. Friedreich's ataxia. The Institute, 1999.
Find full textNational Institute of Neurological Disorders and Stroke (U.S.), ed. Friedreich's ataxia. The Institute, 1999.
Find full textJones, Alun Peredur. Sweet FA: Hanes brwydr Alun Peredur Jones yn erbyn yr afiechyd Friedreich's ataxia. Cyhoeddiadau Mei, 1989.
Find full textParker, James N., and Philip M. Parker. The official parent's sourcebook on Friedreich's ataxia. Edited by Icon Group International Inc and NetLibrary Inc. Icon Health Publications, 2002.
Find full textLynn, Cusick Jamie, ed. From where I sit: My life and struggles with Friedreich's ataxia. Outskirts Press, Inc., 2011.
Find full textKitō, Aya. 1-rittoru no namida: Nanbyō to tatakaitsuzukeru shōjo Aya no nikki. Gentōsha, 2005.
Find full textParker, James N., and Philip M. Parker. Friedreich ataxia: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. ICON Health Publications, 2007.
Find full textBook chapters on the topic "Friedreich's ataxia"
Koeppen, Arnulf H. "Friedreich's Ataxia." In Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781444341256.ch28.
Full textDesnick, Robert J., Orlando Guntinas-Lichius, George W. Padberg, et al. "Friedreich's Ataxia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_654.
Full textTheisler, Charles. "Friedreich's Ataxia." In Adjuvant Medical Care. CRC Press, 2022. http://dx.doi.org/10.1201/b22898-144.
Full textDimitropoulou, Katherine. "Stella wants to garden and has Friedreich's ataxia." In The Neuroscience of Everyday Life. Routledge, 2024. http://dx.doi.org/10.4324/9781003524380-8.
Full textBhidayasiri, Roongroj, and Daniel Tarsy. "Friedreich’s Ataxia." In Current Clinical Neurology. Humana Press, 2012. http://dx.doi.org/10.1007/978-1-60327-426-5_105.
Full textAngelini, Corrado. "Friedreich’s Ataxia." In Genetic Neuromuscular Disorders. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_99.
Full textAngelini, Corrado. "Friedreich’s Ataxia." In Genetic Neuromuscular Disorders. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6_78.
Full textChen, Harold. "Friedreich Ataxia." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_99-2.
Full textManto, Mario. "Friedreich Ataxia." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-15070-8_92.
Full textScharnagl, Hubert, Winfried März, Markus Böhm, et al. "Ataxia Friedreich." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_9044.
Full textConference papers on the topic "Friedreich's ataxia"
Dissanayake, Sahan, Ragil Krishna, Pubudu N. Pathirana, Malcolm K. Horne, David J. Smulewicz, and Louise A. Corben. "Continuous Optimization of a Hierarchical Bayesian Network for Friedreich’s Ataxia Severity Classification." In 2024 46th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2024. https://doi.org/10.1109/embc53108.2024.10781628.
Full textAttel, Hima Bindu, Rakshaa P, Arya K, Brunda S, Shivandappa, and Sumathra Manokaran. "Targeting Friedreich Ataxia: A Sustainable Path to Safer and Smarter Therapeutics Through Integrated Docking and Toxicology." In 2024 8th International Conference on Computational System and Information Technology for Sustainable Solutions (CSITSS). IEEE, 2024. https://doi.org/10.1109/csitss64042.2024.10816941.
Full textChenier, Kevin, Antoine Duquette, Lahoud Touma, Min Tri Le, and David R. Labbe. "Pre-Validation of a Virtual Reality Tool to Quantify the Severity of Friedreich's Ataxia." In 2023 IEEE 11th International Conference on Serious Games and Applications for Health (SeGAH). IEEE, 2023. http://dx.doi.org/10.1109/segah57547.2023.10253802.
Full textLeMoyne, Robert, Frederic Heerinckx, Tanya Aranca, Robert De Jager, Theresa Zesiewicz, and Harry J. Saal. "Wearable body and wireless inertial sensors for machine learning classification of gait for people with Friedreich's ataxia." In 2016 IEEE 13th International Conference on Wearable and Implantable Body Sensor Networks (BSN). IEEE, 2016. http://dx.doi.org/10.1109/bsn.2016.7516249.
Full textMoyses, Pedro, and Marcondes Franca Junior. "Medullar atrophy progression in Friedreich Ataxia." In Congresso de Iniciação Científica UNICAMP. Universidade Estadual de Campinas, 2019. http://dx.doi.org/10.20396/revpibic2720191738.
Full textKrishna, Ragil, Pubudu N. Pathirana, Louise A. Corben, Malcolm Horne, Martin B. Delatycki, and David J. Szmulewicz. "Quantitative Assessment of Friedreich Ataxia through the self-drinking activity." In 2020 42nd Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) in conjunction with the 43rd Annual Conference of the Canadian Medical and Biological Engineering Society. IEEE, 2020. http://dx.doi.org/10.1109/embc44109.2020.9176148.
Full textDissanayake, Sahan, Ragil Krishna, Pubudu N. Pathirana, Malcolm K. Horne, David J. Szmulewicz, and Louise A. Corben. "A Bayesian Network Approach for Friedreich Ataxia Severity Classification using Probability Modelling." In 2023 45th Annual International Conference of the IEEE Engineering in Medicine & Biology Society (EMBC). IEEE, 2023. http://dx.doi.org/10.1109/embc40787.2023.10340184.
Full textAbeysekara, Lahiru L., Chandima Kolambahewage, Pubudu N. Pathirana, Malcolm Horne, David J. Szmulewicz, and Louise A. Corben. "A Novel Feature from Instrumented Utensils for Clinical Assessment of Friedreich Ataxia." In 2023 45th Annual International Conference of the IEEE Engineering in Medicine & Biology Society (EMBC). IEEE, 2023. http://dx.doi.org/10.1109/embc40787.2023.10340519.
Full textNguyen, Khoa D., Louise A. Corben, Pubudu N. Pathirana, Malcolm K. Horne, Martin B. Delatycki, and David J. Szmulewicz. "Assessment of Disease Progression in Friedreich Ataxia using an Instrumented Self Feeding Activity." In 2020 42nd Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) in conjunction with the 43rd Annual Conference of the Canadian Medical and Biological Engineering Society. IEEE, 2020. http://dx.doi.org/10.1109/embc44109.2020.9175980.
Full textRance, Thomas, and Gabrielle Norrish. "6 Clinical presentation and outcomes of childhood hypertrophic cardiomyopathy associated with friedreich’s ataxia: a national cohort study." In British Cardiovascular Society Virtual Annual Conference, ‘Cardiology and the Environment’, 7–10 June 2021. BMJ Publishing Group Ltd and British Cardiovascular Society, 2021. http://dx.doi.org/10.1136/heartjnl-2021-bcs.6.
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