Relevant bibliographies by topics / Ataxia Genetic aspects

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Ataxia Genetic aspects'

Author: Grafiati
Published: 4 June 2021
Last updated: 28 January 2023

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Journal articles on the topic "Ataxia Genetic aspects"

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Pandolfo, Massimo. "Friedreich ataxia: clinical and genetic aspects." Neuromuscular Disorders 7, no. 6-7 (September 1997): 465. http://dx.doi.org/10.1016/s0960-8966(97)87318-x.

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Kumar, D. "Genetic aspects of congenital cerebellar ataxia." Indian Journal of Pediatrics 53, no. 6 (November 1986): 761–73. http://dx.doi.org/10.1007/bf02748571.

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Martins Junior, Carlos Roberto, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, and Marcondes Cavalcante França Júnior. "Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1." Arquivos de Neuro-Psiquiatria 76, no. 8 (August 2018): 555–62. http://dx.doi.org/10.1590/0004-282x20180080.

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ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are st
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Tamega, Abdoulaye, Landoure Guida, Seybou Hassane Diallo, Coulibaly Thomas, Toumany Coulibaly, Lassana Cisse, H. Fischbeck Kenneth, and O. Cheick Guinto. "Spinocerebellar Ataxia Type 3 (SCA3): Clinical and genetic aspects in Mali." Revue Neurologique 178 (April 2022): S48. http://dx.doi.org/10.1016/j.neurol.2022.02.228.

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Capelli, Leonardo Pires, Márcia Rúbia Rodrigues Gonçalves, Claudia C. Leite, Egberto R. Barbosa, Ricardo Nitrini, and Angela M. Vianna-Morgante. "The fragile x-associated tremor and ataxia syndrome (FXTAS)." Arquivos de Neuro-Psiquiatria 68, no. 5 (October 2010): 791–98. http://dx.doi.org/10.1590/s0004-282x2010000500023.

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FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Near
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Bertholon, P., S. Chabrier, F. Riant, E. Tournier-Lasserve, and R. Peyron. "Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood." Journal of Neurology, Neurosurgery & Psychiatry 80, no. 11 (October 28, 2009): 1289–92. http://dx.doi.org/10.1136/jnnp.2008.159103.

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Barca, Emanuele, Valentina Emmanuele, Salvatore DiMauro, Antonio Toscano, and Catarina M. Quinzii. "Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias." Current Neuropharmacology 17, no. 1 (December 5, 2018): 21–32. http://dx.doi.org/10.2174/1570159x15666171109125643.

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Background:Hereditary cerebellar ataxias are a group of disorders characterized by heterogeneous clinical manifestations, progressive clinical course, and diverse genetic causes. No disease modifying treatments are yet available for many of these disorders. Oxidative stress has been recurrently identified in different progressive cerebellar diseases, and it represents a widely investigated target for treatment. </P><P> Objective: To review the main aspects and new perspectives of antioxidant therapy in cerebellar ataxias ranging from bench to bedside. </P><P> Method: Th
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Rojas, Pilar, Rosa de Hoz, Manuel Cadena, Elena Salobrar-García, José A. Fernández-Albarral, Inés López-Cuenca, Lorena Elvira-Hurtado, et al. "Neuro-Ophthalmological Findings in Friedreich’s Ataxia." Journal of Personalized Medicine 11, no. 8 (July 23, 2021): 708. http://dx.doi.org/10.3390/jpm11080708.

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Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death between 11 and 38 years, respectively. The incidence is 1 in 30,000–50,000 persons. It is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13–q1.1). The mutation of this gene causes a deficie
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Di Domenico, Enea Gino, Elena Romano, Paola Del Porto, and Fiorentina Ascenzioni. "Multifunctional Role of ATM/Tel1 Kinase in Genome Stability: From the DNA Damage Response to Telomere Maintenance." BioMed Research International 2014 (2014): 1–17. http://dx.doi.org/10.1155/2014/787404.

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The mammalian protein kinase ataxia telangiectasia mutated (ATM) is a key regulator of the DNA double-strand-break response and belongs to the evolutionary conserved phosphatidylinositol-3-kinase-related protein kinases. ATM deficiency causes ataxia telangiectasia (AT), a genetic disorder that is characterized by premature aging, cerebellar neuropathy, immunodeficiency, and predisposition to cancer. AT cells show defects in the DNA damage-response pathway, cell-cycle control, and telomere maintenance and length regulation. Likewise, inSaccharomyces cerevisiae, haploid strains defective in theT
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Vinante, Elena, Elena Colombo, Gabriella Paparella, Michela Martinuzzi, and Andrea Martinuzzi. "Respiratory Function in Friedreich’s Ataxia." Children 9, no. 9 (August 29, 2022): 1319. http://dx.doi.org/10.3390/children9091319.

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Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. Alterations of respiratory dynamics and parameters are frequently observed. However, in the literature there are few, dated studies with small cohorts. Our study aims to make an objective analysis of the respiratory condition of both early and late stage FRDA patients, looking for correlations with the motor, skeletal, speech and genetic aspects of this condition.
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Dissertations / Theses on the topic "Ataxia Genetic aspects"

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Friend, Kathryn Louise. "Genetic localisation and molecular characterisation of genes for inherited ataxias." Title page, contents and summary only, 2000. http://web4.library.adelaide.edu.au/theses/09PH/09phf911.pdf.

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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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Steckley, James L. "Investigation into the genetic aspects of acetazolamide-responsive paroxysmal vestibulocerebellar ataxia." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp01/MQ32512.pdf.

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Morais, Maria Isabel Caldeira Rodrigues. "Avaliação sistematica dos aspectos clinicos e geneticos de pacientes com epilepsias mioclonicas progressivas." [s.n.], 2003. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309744.

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Orientadores: Iscia Lopes-Cendes, Marilisa Mantovani Guerreiro, Fernando Cendes<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-03T20:31:06Z (GMT). No. of bitstreams: 1 Morais_MariaIsabelCaldeiraRodrigues_M.pdf: 28069480 bytes, checksum: 2b134c38da2f268a0ee7883de4f38562 (MD5) Previous issue date: 2003<br>Resumo: As Epilepsias Mioclônicas Progressivas (EMPs), formam um grupo raro de desordens geneticamente determinadas e freqüentemente familiais. Caracterizam-se por apresentarem a tríade clínica: epilepsia, mi
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Brodbeck, Jens. "Functional aspects of a mutation in the α2[delta]-2 Calcium channel subunit of the ducky mouse, a model for absence epilepsy and cerebellar ataxia." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271095.

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Friend, Kathryn L. "Genetic localisation and molecular characterisation of genes for inherited ataxias / Kathryn Louise Friend." 2000. http://hdl.handle.net/2440/19768.

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Copy of author's previously published work inserted.<br>Bibliography: leaves 193-216.<br>ix, 268 leaves : ill. ; 30 cm.<br>Title page, contents and abstract only. The complete thesis in print form is available from the University Library.<br>Thesis which examines in detail the genetics of congental ataxias, and early and late onset ataxias.<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2000
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Friend, Kathryn L. "Genetic localisation and molecular characterisation of genes for inherited ataxias / Kathryn Louise Friend." Thesis, 2000. http://hdl.handle.net/2440/19768.

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Copy of author's previously published work inserted.<br>Bibliography: leaves 193-216.<br>ix, 268 leaves : ill. ; 30 cm.<br>Thesis which examines in detail the genetics of congental ataxias, and early and late onset ataxias.<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2000
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Books on the topic "Ataxia Genetic aspects"

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Tassone, Flora, and Elizabeth M. Berry-Kravis. Fragile X-associated tremor ataxia syndrome (FXTAS). New York: Springer, 2010.

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2

T, Timchenko Lubov, ed. Triple repeat diseases of the nervous system. New York: Kluwer Academic/Plenum Publishers, 2002.

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Milà, Montserrat. Allelic forms of the FMR1 gene: Fragile X syndrome, primary ovarian insufficiency, and tremor ataxia syndrome among others. New York: Nova Science Publishers, Inc., 2015.

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Timchenko, Lubov T. Triple repeat diseases of the nervous system. New York: Kluwer Academic/Plenum Publishers, 2002.

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J, Vinken P., Bruyn G. W, Klawans Harold L, and Jong, J. M. B. V. de., eds. Hereditary neuropathies and spinocerebellar atrophies. Amsterdam: Elsevier Science, 1991.

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6

Molecular mechanisms of ataxia telangiectasia. Austin, Tex: Landes Bioscience, 2009.

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Ahmad, Shamim I. Molecular Mechanisms of Ataxia Telangiectasia. Taylor & Francis Group, 2009.

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Ahmad, Shamim I. Molecular Mechanisms of Ataxia Telangiectasia. Taylor & Francis Group, 2009.

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Tassone, Flora, and Elizabeth M. Berry-Kravis. Fragile X-Associated Tremor Ataxia Syndrome (FXTAS). Springer New York, 2014.

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Book chapters on the topic "Ataxia Genetic aspects"

1

Matilla-Dueñas, Antoni, Marc Corral-Juan, Victor Volpini, and Ivelisse Sanchez. "The Spinocerebellar Ataxias: Clinical Aspects And Molecular Genetics." In Advances in Experimental Medicine and Biology, 351–74. New York, NY: Springer US, 2012. http://dx.doi.org/10.1007/978-1-4614-0653-2_27.

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Lima, Manuela, Jcome Bruges-Armas, and Conceio Bettencourt. "Non-Mendelian Genetic Aspects in Spinocerebellar Ataxias (SCAS): The Case of Machado-Joseph Disease (MJD)." In Spinocerebellar Ataxia. InTech, 2012. http://dx.doi.org/10.5772/30319.

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Al-Aswad, Lama A., and Lookjan Riansuwan. "Aniridia, WAGR Syndrome, and Associated Conditions." In Aniridia and WAGR Syndrome. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195389302.003.0005.

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Aniridia (Greek) literally means “absence of iris” (the colored part of the eye); however, this is a misnomer because patients with aniridia always have irises that are rudimentary or not fully developed. Years ago when this eye condition was given the name “aniridia,” it was not known that the name would come to only describe the most physically noticeable aspect of the condition. Today it is known that the lack of iris is only a minor aspect of aniridia, and it does not reflect the more important aspects of aniridia that can cause even more vision loss. Aniridia has been and still is referred to as a “rare” eye condition, even though the eye conditions that make up aniridia are common ones such as glaucoma, cataract, corneal degeneration, and low vision. The “rare” aspect of aniridia is having the combination of these conditions in one individual, affecting his or her vision. Aniridia is a genetic eye condition that is congenital—that is, it is present from birth—and affects various structures of the eye. It occurs when the gene responsible for eye development, the PAX6 gene (located on the eleventh chromosome), does not function correctly. The result is developmental disorders not only of the iris, but also of the cornea, the angle of the eye, the lens, the retina (sensory part of the eye), and the optic nerve (nerve that carries visual impulse to the brain). The degree of maldevelopment differs from one patient to another. Aniridia is a bilateral disease. The incidence of this condition ranges from one in 40,000 to one in 50,000 births. It occurs equally in males and females, and has no racial predilection. Aniridia can be familial or sporadic (occurs spontaneously, not inherited). Familial Aniridia (87%): The Ocular Manifestations Occur in Isolation 85% autosomal dominant 2%autosomal recessive has been observed in the rare Gillespie’s syndrome, in which aniridia is associated with cerebellar ataxia, structural defects in the cerebellum and other parts of the brain, and mental retardation. Patients with Gillespie syndrome are not predisposed to the development of Wilms’ tumor.
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Depienne, Christel, Alexis Brice, and Alexandra Durr. "Chapter 14 SPG4, the Most Frequent Hereditary Spastic Paraplegia: Clinical and Genetic Aspects." In Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias, 296–307. Elsevier, 2007. http://dx.doi.org/10.1016/s1877-184x(09)70088-7.

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Stevanin, Giovanni, Alexandra Durr, and Alexis Brice. "Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions." In Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias, 113–44. Elsevier, 2007. http://dx.doi.org/10.1016/s1877-184x(09)70078-4.

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Conference papers on the topic "Ataxia Genetic aspects"

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Pinto, Wladimir Bocca Vieira de Rezende, Bruno de Mattos Lombardi Badia, Igor Braga Farias, José Marcos Vieira de Albuquerque Filho, Roberta Ismael Lacerda Machado, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "Expanding the neurological and imaging phenotype of women with adult-onset X- linked Adrenoleukodystrophy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.019.

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Background: X-linked Adrenoleukodystrophy (X-ALD) represents a key inherited metabolic disorder in neurological practice, representing an important differential diagnosis in different neurological contexts. Symptomatic female patients have been scarcely studied in large cohorts. Objectives: Evaluation of clinical, laboratory and genetic findings from a Brazilian cohort of women with X-ALD. Methods, design and setting: We performed a retrospective observational study of clinical, biochemical, genetic, neuroimaging and neurophysiological aspects of 10 Brazilian female patients with X-linked Adre
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