Academic literature on the topic 'Friedreich's ataxia'

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Journal articles on the topic "Friedreich's ataxia"

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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.

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Background: Friedreich ataxia (FRDA) is the most common form of inherited ataxia, comprising one-half of all hereditary ataxias with a carrier rate between 1 in 60 to 1 in 90 and with a disease prevalence of 1 per 29,000. It can occur in two forms the classic form or in association with a vitamin E dependent ataxia. The precise role of Vitamin E in the nervous system is unknown; An Oxidative attack is suspected to play a role in Ataxia with Vitamin E deficiency, as well as in Friedreich ataxia. Vitamin E is the major free-radical-trapping antioxidant.
 Objective: Theobjectives of the stud
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Fomicheva, 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.

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Friedreich's disease is a hereditary neurodegenerative multiple organ disease, primarily affecting the most energy-dependent tissues (cells of the nervous system, myocardium, pancreas), the lesion of which is characterized by progressive ataxia, dysarthria, dysphagia, oculomotor disorders, loss of deep tendon reflexes, pyramid signs, diabetes mellitus, visual impairment. Friedreich's ataxia is the most common of all hereditary ataxias; nevertheless, this disease is considered orphan. By its pathogenesis, Friedreich's disease is mitochondrial ataxia, caused by a deficiency in the transcription
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Linnemann, 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.

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Pearce, 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.

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Kania, 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.

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Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system. This neurological condition, characterized by progressive muscle weakness, impaired coordination, and cardiomyopathy, has long posed challenges for both patients and healthcare professionals alike. However, there is newfound hope with the recent approval of Omaveloxolone by the U.S. Food and Drug Administration (FDA).Aim of the study: This review article aims to present a detailed sum
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Krishna, 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.

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Friedreich's ataxia (FA) is a debilitating neurodegenerative disorder characterized by progressive gait and limb ataxia, dysarthria, and cardiomyopathy. It is inherited as an autosomal recessive disease. Friedreich ataxia (FA) is the most common hereditary ataxia accounting for approximately 50% of all ataxia cases <sup>[1,2,3,4]</sup>. Unfortunately, symptoms worsen as time progresses, so most people affected by this disease end up requiring mobility aids such as wheelchairs, lose their vision and hearing, and develop other medical complications such as diabetes mellitus and scoliosis. This c
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Picher-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.

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Background &amp; Objective: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of the Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described. The genetic mutations mostly result in the accumulation of toxic metabolites which causes Pur
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WOOD, 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.

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SCHWARTZ, 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.

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Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedre
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Seabury, 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.

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Background and ObjectivesTo develop a valid, disease-specific, patient-reported outcome (PRO) measure for adolescents and adults with Friedreich ataxia (FA) for use in therapeutic trials.MethodsWe conducted semistructured qualitative interviews and a national cross-sectional study of individuals with FA to determine the most prevalent and burdensome symptoms and symptomatic themes to this population. These symptoms and symptomatic themes were included as questions in the first version of the Friedreich's Ataxia-Health Index (FA-HI). We subsequently used factor analysis, beta interviews with 17
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Dissertations / Theses on the topic "Friedreich's ataxia"

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Blaney, Bronagh Elizabeth. "Dysarthria and Friedreich's ataxia." Thesis, University of Ulster, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.403631.

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Sherzai, Mursal. "Investigating novel therapies for Friedreich's ataxia." Thesis, Brunel University, 2018. http://bura.brunel.ac.uk/handle/2438/16971.

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Friedreich's ataxia (FRDA) is a progressive neurodegenerative disorder caused by a homozygous GAA repeat expansion mutation in intron 1 of the frataxin gene (FXN), which instigates transcriptional issues. As a consequence, reduced levels of frataxin protein lead to mitochondrial iron accumulation, oxidative stress and ultimately cell death; particularly in dorsal root ganglia (DRG) sensory neurons and the dentate nucleus of the cerebellum. In addition to neurological disability, FRDA is associated with cardiomyopathy, diabetes mellitus and skeletal deformities. Currently there is no effective
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Becker, 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.

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Wilkes, 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.

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Rothe, Nadine. "Gene regulation and epigenotype in Friedreich's ataxia." Thesis, Imperial College London, 2008. http://hdl.handle.net/10044/1/1305.

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Friedreich’s ataxia (FRDA) is known to be provoked by an abnormal GAA-repeat expansion located in the first intron of the FXN gene. As a result of the GAA expansion, patients exhibit low levels of FXN mRNA, leading to FRDA. Here, via chromatin immunoprecipitation (ChIP), the presence of a RNA pol II transcriptional pausing site at exon 1 of the FXN gene was demonstrated. At this site, FRDA EBVcell lines exhibited elevated levels of the negative elongation factor NELF-E depending on the presence of a GAA repeat expansion compared to controls. This site may represent a rate-limiting step for FXN
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Silva, 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.

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Orientador: Marcondes Cavalcante França Júnior<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-26T03:00:02Z (GMT). No. of bitstreams: 1 Silva_CynthiaBonilhada_D.pdf: 5479490 bytes, checksum: 024402553720f1d64b73e9db5fae2ab4 (MD5) Previous issue date: 2014<br>Resumo: Ataxia de Friedreich é a ataxia autossômiva recessiva mais frequente, causada por uma expansão de tripletos GAA em homozigoze no primeiro íntron do gene FXN, localizado no cromossomo 9. Trata-se de uma doença neurodegenerativa de início precoce, com cur
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Hayes, 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.

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The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. To date, ten SCA loci have been described (SCA1-SCA8, SCA10 and SCA11), with six genes having been cloned (SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and SCA8) and shown to contain CAG/CTG repeats.<br>This study investigated various aspects of the SCA2, SCA6, and SCA7 subtypes. Haplotype analysis in our panel of SCA2 families identified multiple ancestral mutation events to be responsible for disease in this group. Screening for the newly identified SCA6 and SCA7 mutations in our large
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Yandim, Cihangir. "Heterochromatin effects in Friedreich's ataxia and sexual dimorphism." Thesis, Imperial College London, 2012. http://hdl.handle.net/10044/1/9644.

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Heterochromatin is implicated in the negative regulation of gene expression. To understand the effects of heterochromatin on RNA polymerase-II (RNAPII) mediated transcription, this study focused on the FXN gene where abnormal silencing induced by expanded (GAA)n repeats causes Friedreich's ataxia (FRDA), an incurable neurological disorder. Here, the silenced FXN locus was found to be modified by the heterochromatic histone marks H3K9me3, H3K27me3 and bound by HP1β. This pathological heterochromatinisation was partially reversed by the histone deacetlyase inhibitor nicotinamide, which upregulat
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Marmolino, 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.

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Friedreich’s ataxia (FRDA) is an autosomal recessive inherited disorder affecting approximately 1 every 40,000 individuals in Western Europe, is characterized by progressive gait and limb ataxia, dysarthria, areflexia, loss of vibratory and position sense, and a progressive weakness of central origin. Additional features particularly include an hypertrophic cardiomyopathy that can cause premature death. A large GAA repeat expansion in the first intron of the FXN gene is the most common mutation underlying FRDA. Patients show severely reduced levels of the FXN-encoded mitochondrial protein frat
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Ahern, 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.

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Books on the topic "Friedreich's ataxia"

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National Institute of Neurological Disorders and Stroke (U.S.), ed. Friedreich's ataxia. The Institute, 1999.

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National Institute of Neurological Disorders and Stroke (U.S.), ed. Friedreich's ataxia. The Institute, 1999.

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Blaney, Bronagh Elizabeth. Dysarthria and Friedreich's ataxia. The author], 2004.

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E, Harding A., and Deufel Thomas, eds. Inherited ataxias. Raven Press, 1993.

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Jones, Alun Peredur. Sweet FA: Hanes brwydr Alun Peredur Jones yn erbyn yr afiechyd Friedreich's ataxia. Cyhoeddiadau Mei, 1989.

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Parker, 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.

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Lynn, Cusick Jamie, ed. From where I sit: My life and struggles with Friedreich's ataxia. Outskirts Press, Inc., 2011.

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1921-, Sobue Itsuro, ed. TRH and spinocerebellar degeneration. Elsevier, 1986.

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Kitō, Aya. 1-rittoru no namida: Nanbyō to tatakaitsuzukeru shōjo Aya no nikki. Gentōsha, 2005.

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Parker, 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.

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Book chapters on the topic "Friedreich's ataxia"

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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.

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Desnick, 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.

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Theisler, Charles. "Friedreich's Ataxia." In Adjuvant Medical Care. CRC Press, 2022. http://dx.doi.org/10.1201/b22898-144.

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Dimitropoulou, 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.

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Bhidayasiri, 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.

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Angelini, Corrado. "Friedreich’s Ataxia." In Genetic Neuromuscular Disorders. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_99.

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Angelini, Corrado. "Friedreich’s Ataxia." In Genetic Neuromuscular Disorders. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6_78.

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Chen, 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.

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Manto, 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.

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Scharnagl, 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.

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Conference papers on the topic "Friedreich's ataxia"

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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.

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Attel, 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.

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Chenier, 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.

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LeMoyne, 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.

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Moyses, 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.

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Krishna, 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.

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Dissanayake, 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.

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Abeysekara, 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.

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Nguyen, 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.

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Rance, 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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