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Dissertations / Theses on the topic 'Atalia'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Ló, Rita de Cácia. "Atalia rainha de Judá - Leitura Exegética e Histórica de 2Rs 11,1-3.13-16." Universidade Metodista de São Paulo, 2006. http://tede.metodista.br/jspui/handle/tede/502.

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Made available in DSpace on 2016-08-03T12:20:52Z (GMT). No. of bitstreams: 1 Rita de Cacia Lo.pdf: 2275974 bytes, checksum: 89781a043870246cd2dba3d43ef93519 (MD5) Previous issue date: 2006-03-27<br>Esta investigación pretende reconstruir um perído de la historia de Israel los seis años del govierno de la Reina Atalia, en Judea (841-836 aC). Teniendo como marco el análisis exegético e histórico del 2Rs11,1-3.13-16. El cenario y el estilo del 2Rs 11 nos permite afirmar que el autor pertencía al círculo de la escribas de la corte o de la institución religiosa. La investigación recurre a la part

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2

Bizzarini, Marco. "Griselda e Atalia: exempla femminili di vizi e virtù nel teatro musicale di Apostolo Zeno." Doctoral thesis, Università degli studi di Padova, 2008. http://hdl.handle.net/11577/3425035.

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This dissertation studies two libretti of Apostolo Zeno: the opera «Griselda» (Venice, 1701) and the oratorio «Joaz» (Vienna, 1726) along with the music composed by Albinoni, Predieri, Giovanni Maria Bononcini, Orlandini, Alessandro Scarlatti, Francesco Bartolomeo Conti, Vivaldi, Caldara and Benedetto Marcello. A systematic examination of libretti, scores, textual revisions, contemporary chronicles and documents sheds new light on the genesis of these works, among which Vivaldi's «Griselda», based on Goldoni's revision, presents a special interest. Moreover, the thesis reconsiders Zeno's libre

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3

Barbot, Maria Clara Barcelos de Morais. "Ataxia com apraxia oculomotora (AOA) como modelo para o estudo das ataxias recessivas." Doctoral thesis, Instituto de Ciências Biomédicas Abel Salazar, 2007. http://hdl.handle.net/10216/7234.

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4

Barbot, Maria Clara Barcelos de Morais. "Ataxia com apraxia oculomotora (AOA) como modelo para o estudo das ataxias recessivas." Tese, Instituto de Ciências Biomédicas Abel Salazar, 2007. http://hdl.handle.net/10216/7234.

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5

Beaudin, Marie. "The nosology of hereditary cerebellar ataxias : development of a classification for recessive ataxias and phenotypical description of Spinocerebellar ataxia 34." Master's thesis, Université Laval, 2019. http://hdl.handle.net/20.500.11794/36557.

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Les ataxies cérébelleuses héréditaires causent une atteinte progressive de l’équilibre et de la marche. Malgré l’amélioration de la performance et de l’accessibilité des tests génétiques, environ la moitié des patients demeurent sans diagnostic précis, ce qui a un impact sur la prise en charge. Dans ce mémoire de maîtrise, nous abordons l’enjeu du sous-diagnostic chez les patients atteints d’ataxie cérébelleuse via l’élaboration d’une nouvelle classification pour les ataxies récessives et la caractérisation détaillée de l’ataxie spinocérébelleuse 34. Le premier chapitre est une revue systémati

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6

Marc, Corral Juan. "Molecular genetics of autosomal dominant ataxias: identification and characterisation of two novel spinocerebellar ataxia subtypes." Doctoral thesis, Universitat Autònoma de Barcelona, 2021. http://hdl.handle.net/10803/672062.

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Les atàxies espinocerebel·loses (SCAs) consisteixen en un grup heterogeni de trastorns del moviment hereditaris caracteritzats clínicament per atàxia progressiva associada de forma variable amb altres signes neurològics addicionals com són signes piramidals o extrapiramidals, oftalmoplegia, retinosi pigmentària, demència o convulsions. Aquesta heterogeneïtat clínica s’explica per l’heterogeneïtat genètica, amb més de 53 loci i 40 gens identificats i associats fins a dia d’avui. En aquesta tesi s’ha estudiat una cohort de 308 pacients amb atàxia, identificant variants genètiques causatives en 8

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7

Marinello, Martina. "Ataxin-7 SUMOylation and its functional consequences in the spinocerebellar ataxia type 7 (SCA7) pathophysiology." Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066266/document.

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L'ataxie spinocérébelleuse de type 7 (SCA7) est une maladie neurodégénerative due à une expansion de CAG traduit en polyQ dans la protéine ataxine-7. La SUMOylation, modification post-traductionnelle que nous avons identifiée moduler l'agrégation de la protéine mutante, est facilitée par une SUMO E3 ligase.Nous avons identifié RanBP2, une nucléoporine appartenant au complexe du pore nucléaire en tant que SUMO E3 ligase, via SUMO-1 de l'ataxine-7. En effet, le silencing de RanBP2 induit l'agrégation de l'ataxine-7 mutante, ce qui démontre l'implication de RanBP2 dans la physiopathologie de SCA7

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8

Salvi, Julie. "Mécanismes psysiopathologiques des ataxies épisodiques et progressives associées aux canaux calciques de type P/Q." Thesis, Montpellier 2, 2012. http://www.theses.fr/2012MON20229.

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Dans de nombreuses maladies héréditaires monogéniques, les bases moléculaires du mode de transmission (dominant vs récessif) et l'origine de nombreux phénotypes associés restent obscurs. C'est le cas pour les ataxies épisodiques (EA) et progressives liées au canal calcique Cav2.1. La plupart des mutations présentes dans ces ataxies génèrent une protéine mal repliée retenue et dégradée dans le réticulum endoplasmique. J'ai exploré plusieurs approches afin d'associer les phénotypes dues à la présence des mutants et ceux dues à une « pure » perte de fonction. A l'aide de vecteurs viraux codants p

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9

Bodranghien, Florian. "A novel brain-computer interface (BCI) to assist upper limb pointing movements." Doctoral thesis, Universite Libre de Bruxelles, 2017. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/261534.

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Human to computer interaction only using thoughts is no longer a science fiction topic and recent progress made in this field are astounding. This work shows the creation of a novel upper limb pointing movement performance quantification platform (eCAM test) and its validation on a group of healthy subjects. After that, it shows that functional electrical stimulation (FES) enhances these upper limbs movements performance. Furthermore, this work shows that anodal transcranial direct current stimulation (atDCS) of the cerebellum impacts brain rhythms as well as postural tremor on a patient. Also

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10

PASTORI, VALENTINA. "Role of phosphorylation of ataxin-3 and oxidative stress in the pathogenesis of spinocerebellar ataxia type (SCA3)." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2011. http://hdl.handle.net/10281/19016.

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Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited, neurodegenerative disease caused by the presence of an expanded polyglutamine repeat inside ataxin-3, the protein encoded by MJD1 gene (located on chromosome 14). Bioinformatic analysis, using NetPhos 2.0, PHOSIDIA and ScanProsite, showed the presence of eight casein kinase 2 (CK2) phosphorylation sites and three glycogen synthase kinase 3 (GSK3) phosphorylation sites in ataxin-3 sequence. CK2 is a pleiotropic kinase involved in many cellular processes and GSK3 has turned out to have a key role in the regulation of many c

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11

London, Ester. "Distúrbios do sono na ataxia espinocerebelar tipo 10." reponame:Repositório Institucional da UFPR, 2016. http://hdl.handle.net/1884/46348.

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Orientador: Prof. Dr. Helio Afonso Ghizoni Teive<br>Coorientador: Profª. Drª. Ana Chrystina de Souza Crippa<br>Tese (doutorado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Medicina Interna. Defesa : Curitiba, 23/12/2016<br>Inclui referências : f. 57-65<br>Resumo: As principais manifestações clínicas das ataxias espinocerebelares (AEC) resultam a partir do envolvimento do cerebelo e suas conexões aferentes e eferentes. Cursam tanto com sintomas motores como também com sintomas não motores. Evidências têm demonstrado uma frequência elevada de sintom

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12

Pilliod, Julie. "Etude génétique et fonctionnelle de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS)." Thesis, Bordeaux, 2014. http://www.theses.fr/2014BORD0368/document.

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ARSACS est une maladie neurodégénérative autosomique récessive caractérisée par une ataxie cérébelleuse, une paraplégie spastique et une polyneuropathie sensitivo-motrice démyélinisante. Le gène SACS, responsable de la maladie, a été identifié en 2000. Depuis, de nombreux cas ont été décrits dans le monde entier. Le gène SACS code pour la sacsine, dont la fonction reste inconnue malgré l’identification de nombreux domaines protéiques et surtout la description récente d’un rôle dans la physiologie mitochondriale. Les objectifs de ma thèse étaient d’identifier des mutations dans SACS au sein d’u

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13

Alt, Johanna_Clarissa [Verfasser]. "Spinocerebelläre Ataxie Typ 2 : Untersuchung des zellulären Wirkmechanismus des krankheitsassoziierten Proteins Ataxin-2 / Johanna_Clarissa Alt." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2011. http://d-nb.info/1010758128/34.

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14

Hallen, Linda Camilla [Verfasser]. "Spinozerebelläre Ataxie Typ 2 : Untersuchungen zur Rolle von Ataxin-2 in der transkriptionellen Regulation / Linda Camilla Hallen." Berlin : Freie Universität Berlin, 2011. http://d-nb.info/1026263565/34.

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15

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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16

FRICANO, Anna. "UNDERSTANDING THE RELATIONSHIP BETWEEN NORMAL FUNCTION AND ABERRANT AGGREGATION: THE CASE OF ATAXIN-3." Doctoral thesis, Università degli Studi di Palermo, 2020. http://hdl.handle.net/10447/425196.

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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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18

Izatt, Louise Patricia. "Ataxia telangiectasia : mutation detection in ataxia telangiectasia families and early-onset breast cancer cases." Thesis, King's College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343596.

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19

Smith, Eric D. S. M. Massachusetts Institute of Technology. "Robotic compensation of cerebellar ataxia." Thesis, Massachusetts Institute of Technology, 2007. http://hdl.handle.net/1721.1/42311.

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Thesis (S.M.)--Massachusetts Institute of Technology, Dept. of Mechanical Engineering; and, (S.M.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2007.<br>Includes bibliographical references (p. 115-117).<br>The cerebellum is believed to play a role in dynamic compensation in the human motor control system. When it is damaged, subjects make clumsy movements with reduced acceleration, increased overshoot, and swerving in multi-joint movements. These errors, which are referred to clinically as ataxia, are consistent with failing to compensate for th

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20

Šuminaite, Daumante. "Elucidating the reversibility of ataxia." Thesis, University of Edinburgh, 2017. http://hdl.handle.net/1842/28911.

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Heterozygous and recently identified homozygous mutations in the SPTBN2 gene, encoding b-III spectrin, are implicated in spinocerebellar ataxia type 5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type 1 (SPARCA1), respectively. Our mouse model, lacking b-III spectrin (KO), mimics the progressive human phenotype displaying motor deficiencies as well as reduced Purkinje cell firing frequency followed by dendritic tree degeneration and cell death. The aims of this study were to evaluate progression of Purkinje cell degeneration following loss of b-III spectrin function and

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Bolotta, Alessandra <1982&gt. "Oxidative Stress and Friedreich’s Ataxia." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2014. http://amsdottorato.unibo.it/6282/1/Bolotta_Alessandra_tesi.pdf.

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Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder caused by a deficiency of the protein frataxin and characterized by oxidative stress. The first aim of my research project was to analyze the effects of tocotrienol in FRDA patients. Patients received for 2 months a low dose of tocotrienol. A number of biochemical parameters related to oxidative stress were studied. We consistently showed that taking for 2 months a low dose of tocotrienol led to the decrease of oxidative stress indexes in FRDA patients. Also, this study provides a suitable model to investigate the efficacy of natural c

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Bolotta, Alessandra <1982&gt. "Oxidative Stress and Friedreich’s Ataxia." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2014. http://amsdottorato.unibo.it/6282/.

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Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder caused by a deficiency of the protein frataxin and characterized by oxidative stress. The first aim of my research project was to analyze the effects of tocotrienol in FRDA patients. Patients received for 2 months a low dose of tocotrienol. A number of biochemical parameters related to oxidative stress were studied. We consistently showed that taking for 2 months a low dose of tocotrienol led to the decrease of oxidative stress indexes in FRDA patients. Also, this study provides a suitable model to investigate the efficacy of natural c

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23

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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Kaucher, Gabriele Anna [Verfasser], and Olaf [Akademischer Betreuer] Rieß. "Ataxin-3 als potenzieller Biomarker in der neurodegenerativen Erkrankung der Spinozerebellären Ataxie Typ 3 / Gabriele Anna Kaucher ; Betreuer: Olaf Rieß." Tübingen : Universitätsbibliothek Tübingen, 2020. http://d-nb.info/1204422451/34.

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25

Rocha, Martina. "Ataxia de Friedreich: perspectivas de tratamento." Master's thesis, Universidade da Beira Interior, 2011. http://hdl.handle.net/10400.6/1023.

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A ataxia de Friedreich é uma doença autossómica recessiva descrita pela primeira vez por Nikolaus Friedreich em 1863 [1]. Afecta aproximadamente um em cada 50 000 caucasianos. Manifesta-se no início da segunda década de vida, habitualmente com a ataxia da marcha. As mãos são afectadas meses ou anos após o envolvimento das pernas, seguindo-se a afecção do discurso. Outras características relevantes são: fraqueza muscular, cifoescoliose, miocardiopatia e diabetes [2]. Esta doença é causada por uma mutação no cromossoma 9, que resulta numa hiperexpansão do tripleto GAA no primeiro intrão do gene

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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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Alcalde, Huaraya Armanie Rulman, Soria Marco Antonio Armas, Villa Andrea Lissette Baldeon, and Chahuayllo Ruslen America Checcaña. "ATALLPA." Bachelor's thesis, Universidad Peruana de Ciencias Aplicadas (UPC), 2020. http://hdl.handle.net/10757/652897.

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ATALLPA ofrece a sus clientes una experiencia gastronómica saludable con diversidad de sabores peruanos, hechos en base de insumos peruanos acompañados de ensaladas frescas y nutritivas y tubérculos cocidos, pensando siempre en el cuidado la salud. La propuesta va dirigida a personas entre 18 a 55 años de NSE A y B, personas deportistas con hábitos alimenticios saludables y personas que cuidan su salud, con pocas opciones para degustar este plato tradicional y exquisito que optan por el consumo de alternativos como comidas naturistas o preparar sus propios alimentos. ATALLPA cuenta con

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Renaud, Mathilde. "Ataxies cérébelleuses héréditaires : identification de gènes responsables, description clinique et stratégie diagnostique." Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAJ019/document.

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Les ataxies cérébelleuses héréditaires sont des pathologies neuro-dégénératives rares, hétérogènes, complexes affectant le cervelet et parfois la moelle épinière et/ou les nerfs périphériques. Elles se transmettent sur le mode autosomique récessif (ARCA), dominant (SCA) ou lié à l’X. Les objectifs de cette thèse de sciences étaient la description phénotypique d’ataxies cérébelleuses héréditaires, la mise en évidence de corrélations du génotype au phénotype et la description de stratégies diagnostiques pour mettre en évidence ces pathologies rares.Grâce à nos résultats, nous avons pu élargir le

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Jacquelin, Cécile. "Caractérisation phénotypique, comportementale et neurochimique, de la souris mutante ataxique scrambler (Dab1scm)." Thesis, Université de Lorraine, 2015. http://www.theses.fr/2015LORR0345.

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La souris scrambler (Dab1scm) est un mutant ataxique cérébelleux qui présente une mutation naturelle du gène mdab1, codant pour une protéine intracellulaire nécessaire à la voie de signalisation de la rééline. Cette protéine joue un rôle crucial dans la mise place et la plasticité des structures laminées telles que le cortex cérébral, l’hippocampe ou le cervelet. Notre objectif a été de caractériser le phénotype comportemental et neurochimique de la souris scrambler au cours du développement post-natal et à l’âge adulte. Les premiers signes de l’ataxie cérébelleuse sont observables dès 8 jours

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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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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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Bradshaw, Paul Stuart. "The ataxia telanglectasi gene in haematological malignancies." Thesis, Institute of Cancer Research (University Of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.251961.

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Saqlain, Saba. "Investigating Friedreich ataxia disease mechanisms and therapy." Thesis, Brunel University, 2018. http://bura.brunel.ac.uk/handle/2438/15853.

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Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease caused by the excessive pathological expansion of an unstable GAA trinucleotide repeat within intron 1 of the FXN gene. FRDA occurs due to a pathological GAA repeat ranging from 70-1200 repeats, whereas normal individuals have up to 40 repeats. The prevalence of FRDA in Caucasians is 1:50,000 and it is the most common inherited ataxia. The presence of this large GAA repeat leads to silencing of the FXN gene, resulting in severely diminished levels of the essential mitochondrial protein, frataxin. Frataxin is required

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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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Keiser, Megan Kathryn. "Gene therapies for spinocerebellar ataxia type 1." Diss., University of Iowa, 2013. https://ir.uiowa.edu/etd/2540.

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Spinocerebellar ataxia type 1 (SCA1) is an adult onset, autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in ataxin-1, which encodes the ataxin-1 protein. SCA1 is one of nine polyQ-expansion gain-of-function diseases which includes Huntington's disease, spinal-bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy and other ataxias. Clinical symptoms of SCA1 include ataxia, dysarthria, ophthalmoparesis, muscle wasting, and extrapyramidal and bulbar dysfunction. Cerebellar Purkinje cells (

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Gama, Eduardo José Diniz da. "Perfil clínico dos animais e funcionalidade do uso do aparelho de fisioterapia veterinária(modelos vetcar) na reabilitação de cães e gatos acometidos por dificuldades de locomoção /." Botucatu, 2007. http://hdl.handle.net/11449/94588.

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Orientador: Stélio Pacca Loureiro Luna<br>Banca: Rogério Martins Amorim<br>Banca: Márcia Valéria R. S. Szabó<br>Resumo: Problemas como a incoordenação (ataxia), paresias e paralisias são freqüentes no atendimento clínico veterinário em ambulatórios de pequenos animais. Os sinais clínicos abrangem desde dores na coluna vertebral até a ausência de dor profunda. Várias afecções podem estar associadas a esses sintomas, a saber, as discopatias, mielopatias, fusão de vértebras, displasia coxofemoral e enfermidades causadas por bactérias, vírus e protozoários. O objetivo deste estudo retrospectivo fo

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Fleszar, Zofia Maria [Verfasser]. "Assessing movement changes in degenerative ataxias : from the pre-ataxic disease stage to the effects of a bio-feedback intervention / Zofia Maria Fleszar." Tübingen : Universitätsbibliothek Tübingen, 2021. http://d-nb.info/122991627X/34.

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Bryer, Alan. "Spinocerebellar ataxias." Doctoral thesis, University of Cape Town, 1994. http://hdl.handle.net/11427/25851.

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Canet, Pons Julia [Verfasser], Amparo [Gutachter] Acker-Palmer, and Georg [Gutachter] Auburger. "Dysregulated pathways in spinocerebellar ataxia type 2 and ataxia telangectasia / Julia Canet Pons ; Gutachter: Amparo Acker-Palmer, Georg Auburger." Frankfurt am Main : Universitätsbibliothek Johann Christian Senckenberg, 2019. http://d-nb.info/120284801X/34.

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Canet, Pons Julia Verfasser], Amparo [Gutachter] [Acker-Palmer, and Georg [Gutachter] Auburger. "Dysregulated pathways in spinocerebellar ataxia type 2 and ataxia telangectasia / Julia Canet Pons ; Gutachter: Amparo Acker-Palmer, Georg Auburger." Frankfurt am Main : Universitätsbibliothek Johann Christian Senckenberg, 2019. http://nbn-resolving.de/urn:nbn:de:hebis:30:3-520118.

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Mikula, Laura. "Intégration multisensorielle pour les mouvements de pointage chez les sujets sains et les patients avec ataxie optique." Thesis, Lyon, 2018. http://www.theses.fr/2018LYSE1117/document.

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Afin d’effectuer un mouvement de la main, le système nerveux doit mettre en commun des informations issues de plusieurs sens : c’est l’intégration multisensorielle. Le cortex pariétal postérieur est une interface sensorimotrice qui est impliquée dans le processus d’intégration multisensorielle. Si cette région est endommagée, les patients présentent un trouble visuomoteur dénommé ataxie optique qui se caractérise par une difficulté à réaliser des mouvements visuellement guidés de la main. À ce jour, les mécanismes qui sous-tendent l’intégration multisensorielle pour l’action ne sont pas encore

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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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Sandi, Chiranjeevi. "Investigating the pathogenesis and therapy of Friedreich ataxia." Thesis, Brunel University, 2010. http://bura.brunel.ac.uk/handle/2438/6334.

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Friedreich ataxia (FRDA) is an inherited autosomal recessive neurodegenerative disorder caused by a GAA trinucleotide repeat expansion mutation within the first intron of the FXN gene. Normal individuals have 5 to 30 GAA repeats, whereas affected individuals have from approximately 70 to more than 1,000 GAA triplets. In addition to progressive neurological disability, FRDA is associated with cardiomyopathy and an increased risk of diabetes mellitus. Currently there is no effective therapy for FRDA and this is perhaps due to the lack of an effective system to test potential drugs. Therefore, th

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Mouro, Pinto Ricardo. "Therapeutic testing and epigenetic characterization of Friedreich Ataxia." Thesis, Brunel University, 2009. http://bura.brunel.ac.uk/handle/2438/6335.

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Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disorder with severely debilitating effects and no current cure. FRDA is mainly caused by the hyper-expansion of a GAA repeat present in intron 1 of the FXN gene, which results in decreased gene expression and consequently a deficiency of the mitochondrial protein frataxin. In the first instance, frataxin deficiency renders an impaired protection from oxidative stress. Antioxidant therapy with cannabinoids (CBD and THC) and CTMIO was investigated in GAA repeat FXN YAC transgenic mouse models of FRDA, but no significant impro

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Craig, Kate. "Inherited ataxia in the North East of England." Thesis, University of Newcastle Upon Tyne, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.421185.

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Worth, Paul Francis. "Spinocerebellar ataxia : a clinical and molecular genetic study." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270217.

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Petrica, Ana Lúcia de Andrade Patrício. "Ataxia em poldros derivada da ingestão de paspalum." Master's thesis, Universidade Técnica de Lisboa. Faculdade de Medicina Veterinária, 2010. http://hdl.handle.net/10400.5/4686.

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Dissertação de Mestrado Integrado em Medicina Veterinária<br>A ataxia do Paspalum é uma doença neurológica que ocorre quando os animais de pastoreio ingerem Paspalum spp. infectado com o fungo Claviceps paspali. Por volta de Setembro/Outubro os corpos escleróticos do fungo substituem as sementes do Paspalum, os quais contêm os príncipios tóxicos responsáveis pela sintomatologia. Esses princípios tóxicos são micotoxinas tremorgénicas, aparentemente específicas na sua actividade biológica, que originam tremores através de alterações bioquímicas reversíveis que afectam a neurotransmissão. Os sina

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Ferreira, Diana Raquel Martins Fernandes Rompante. "Ataxia de Fridreich - Revisão bibliográfica e caso clínico." Master's thesis, Instituto de Ciências Biomédicas Abel Salazar, 2010. http://hdl.handle.net/10216/63609.

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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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Ferreira, Diana Raquel Martins Fernandes Rompante. "Ataxia de Fridreich - Revisão bibliográfica e caso clínico." Dissertação, Instituto de Ciências Biomédicas Abel Salazar, 2010. http://hdl.handle.net/10216/63609.

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