Suchergebnisse - "Atàxia de Friedreich"

Quelle: Movement Disorders, 2024, VOL. 39, NÚM. 7, P. 1099-1108
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Schlagwörter: Atàxia de Friedreich -- Tractament, Male, Adult, 0301 basic medicine, Adolescent, Vitamina D, Friedreich's ataxia -- Treatment, Proteinas, Young Adult, 03 medical and health sciences, Calcitriol, Iron-Binding Proteins, Drug utilization, Humans, Atàxia de Friedreich, Vitamin D, 0303 health sciences, Ferritina, Frataxin, CHEMICALS AND DRUGS::Polycyclic Compounds::Fused-Ring Compounds::Steroids::Cholestanes::Cholestenes::Cholecalciferol::Hydroxycholecalciferols::Dihydroxycholecalciferols::Calcitriol, Middle Aged, COMPUESTOS QUÍMICOS Y DROGAS::compuestos policíclicos::compuestos con anillos de fusión::esteroides::colestanos::colestenos::colecalciferol::hidroxicolecalciferoles::dihidroxicolecalciferoles::calcitriol, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::trastornos heredodegenerativos del sistema nervioso::degeneraciones espinocerebelosas::ataxia de Friedreich, COMPUESTOS QUÍMICOS Y DROGAS::compuestos policíclicos::compuestos con anillos de fusión::esteroides::secoesteroides::vitamina D, Treatment Outcome, Friedreich ataxia, Friedreich Ataxia, CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Iron-Binding Proteins, Medicaments -- Ús, Quality of Life, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Spinocerebellar Degenerations::Friedreich Ataxia, Female

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Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38696306
http://hdl.handle.net/10256/25081
https://hdl.handle.net/10459.1/465896
https://doi.org/10.1002/mds.29808
https://hdl.handle.net/11351/12379

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Approaching the evaluation and intervention of patients with Friedreich's ataxia: A bibliographic review ; Abordaje en la evaluación e intervención logopédica de pacientes con ataxia de Friedreich: revisión bibliográfica

Autoren: Moreno Escobar, Silvia Pérez Naranjo, Narcisa

Quelle: Revista de Investigación en Logopedia; Vol. 15 Núm. 2 (2025); e99929 ; 2174-5218

Schlagwörter: Ataxia de Friedreich, Ataxia hereditaria, Disartria, Disfagia, Logopedia, Dysarthria, Dysphagia, Friedreich’s ataxia, Hereditary ataxia, Speech therapy

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(2018). Personality and neuropsychological profiles in Friedreich ataxia. The Cerebellum, 17, 204-212. https://doi.org/10.1007/s12311-017-0890-5 Schirinzi, T., Sancesario, A., Bertini, E., Castelli, E., y Vasco, G. (2020). Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy. Cerebellum, 19(1), 126-130. https://doi.org/10.1007/s12311-019-01084-8 Schmahmann J. D. (2019). The cerebellum and cognition. Neuroscience letters, 688, 62-75. https://doi.org/10.1016/j.neulet.2018.07.005 Schmitz-Hubsch, T., Tezenas, S., Baliko, L., Berciano, J., Boesch, S., Depondt, C., Giunti, P., Globas, C., Infante, J., Kang, S., Kremer, B., Mariotti, C., Melegh, B., Pandolfo, M., Rakowicz, M., Ribai, P., Rola, R., Schöls, L., Szymansky, S., …Klockgether, T. (2006). Scale for the assessment and rating of ataxia (SARA): development of a new clinical scale. Neurology, 66(11), 1717-1720.https://doi.org/10.1212/01.wnl.0000219042.60538.92 Schuhfried, G. (1947). Vienna Test System: Reaction Test. IIBP Scott, V., Delatycki, M.B., Tai, G., Corben, L.A. (2024). New and Emerging Drug and Gene Therapies for Friedreich Ataxia. CNS Drugs 38, 791–805. https://doi.org/10.1007/s40263-024-01113-z Selvadurai, L. P., Corben, L. A., Delatycki, M.B., Storey, E., Egan, G.F., Georgiou-Karistianis, N., y Harding, I.H. (2020). Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study. Human Brain Mapping, 41(7), 1920-1933. https://doi.org/10.1002/hbm.24921 Shallice, T. (1982). Specific impairments in planning. Philosophical Transcripts of the Royal Society of London 298, 199-209. https://doi.org/10.1098/rstb.1982.0082 Spencer, K. A. y Dawson, M. (2019). Dysarthria profiles in adults with hereditary ataxia. American Journal of Speech-Language Pathology, 28(2), 915-924. https://doi.org/10.1044/2018_AJSLP-MSC18-18-0114 Strawser, C., Schadt, K., Hauser, L., McCormick, A., Wells, M., Larkindale, J., Lin, H., y Lynch, D. R. (2017). Pharmacological therapeutics in Friedreich ataxia: the present state. Expert Review of Neurotherapeutics, 17(9), 895-907. https://doi.org/10.1080/14737175.2017.1356721 Subramony, S. H., May, W., Lynch, D., Gomez, C., Fischbeck, K., Hallett, M., Taylor, P., Wilson, R., y Ashizawa, T. (2005). Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology, 64(7), 1261-1262.https://doi.org/10.1212/01.WNL.0000156802.15466.79 Tai, G., Corben, L. A., Yiu, E.M., Milne, S.C., y Delatycki, M.B. (2018). Progress in the treatment of Friedreich ataxia. Neurologia i Neurochirurgia Polska, 52(2), 129-139. https://doi.org/10.1016/j.pjnns.2018.02.003 Tai, G., Corben, L. A., Woodcock, I. R., Yiu, E. M., y Delatycki, M.B. (2021). Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video. Movement Disorders, 8, 688-693. https://doi.org/10.1002/mdc3.13204 Vavla, M., Arrigoni, F., Nordio, A., De Luca, A., Pizzighello, S., Petacchi, E., Paparella, G., Grazia, M., Brighina, E., Russo, E., Fantin, M., Colombo, P. y Martinuzzi, A. (2018). Functional and Structural Brain Damage in Friedreich's Ataxia. Frontiers in Neurology, 9, 747. https://doi.org/10.3389/fneur.2018.00747 Vogel, A. P., Brown, S. E., Folker, J. E., Corben, L. A. y Delatycki, M.B. (2014). Dysphagia and swallowing-related quality of life in Friedreich ataxia. Journal of Neurology, 261(2), 392–399. https://doi.org/10.1007/s00415-013-7208-4 Vogel, A. P., Wardrop, M. I., Folker, J. E., Synofzik, M., Corben, L. A., Delatycki, M. B., y Awan, S. N. (2017). Voice in Friedreich ataxia. Journal of Voice, 31(2), 243-e9. https://doi.org/10.1016/j.jvoice.2016.04.015 Vogel, A. P., Stoll, L. H., Oettinger, A., Rommel, N., Kraus, E. M., Timmann, D., Scott, D., Atay, C., Storey, E., Schöls, L., y Synofzik, M. (2019). Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. Journal of Neurology, 266(5), 1260-1266. https://doi.org/10.1007/s00415-019-09258-4 Warrington, E. K. y James, M. (1994). The visual object and space perception battery: VOSP. Harcourt. Wechsler, D. (1997a). Wechsler Adult Intelligence Scale-Third Edition: Administration and scoring manual. San Antonio, TX: The Psychological Corporation. Wechsler, D. (1997b). Wechsler Memory Scale-Third Edition: Administration and scoring manual. San Antonio, TX: The Psychological Corporation. Yang, W., Thompson, B. y Kwa, F.A.A. (2022). Molecular approaches for the treatment and prevention of Friedreich's ataxia. Drug Discovery Today, 27(3), 866-880. https://doi.org/10.1016/j.drudis.2021.11.003 Zesiewicz, T., Hancock, J., Ghanekar, S. D., Kuo, S. H., Doshe, C. A. y Vega, J. (2020). Emerging therapies in Friedreich’s ataxia. Expert Review of Neurotherapeutics, 20(12), 1215-1228. https://doi.org/10.1080/14737175.2020.1821654 Ziegler, W., Hartmann, E., y Wiesner, I. (1992). Dysarthrie diagnostik mit dem "Münchner Verständlichkeits-Profil". Konstruktion des Verfahrens und Anwendungen. Nervenarzt, 63, 602-608.; https://revistas.ucm.es/index.php/RLOG/article/view/99929

Verfügbarkeit: https://revistas.ucm.es/index.php/RLOG/article/view/99929

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11

Modificaciones del proteoma en modelos celulares de Ataxia de Friedreich y su relación con el estrés oxidativo y la Homeostasis del hierro

Autoren: Irazusta, Verónica Patricia

Weitere Verfasser: University/Department: Universitat de Lleida. Departament de Ciències Mèdiques Bàsiques

Thesis Advisors: Ros Salvador, Joaquim, Tamarit Sumalla, Jordi

Quelle: TDX (Tesis Doctorals en Xarxa)

Schlagwörter: alteracions, frataxina, proteïna mitocondrial, estrès oxidatiu. Ataxia de Friedreich, Bioquímica i Biologia Molecular

Dateibeschreibung: application/pdf

Zugangs-URL: http://www.tdx.cat/TDX-1013109-170608
http://hdl.handle.net/10803/8101

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12

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers

Autoren: Gilbert Thomas‐Black Daniel R. Altmann Harry Crook et al.

Weitere Verfasser: Gilbert Thomas‐Black Daniel R. Altmann Harry Crook et al.

Quelle: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
O2, repositorio institucional de la UOC
Universitat Oberta de Catalunya (UOC)

Schlagwörter: Retina - Imatgeria, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::imágenes ópticas::tomografía óptica::tomografía de coherencia óptica, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Optical Imaging::Tomography, Optical::Tomography, Optical Coherence, frataxin, Sistema nerviós - Malalties, Tomografia, DISEASES::Nervous System Diseases::Cranial Nerve Diseases::Optic Nerve Diseases, Visual Acuity, Friedreich's ataxia, biomarkers, Retina, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades de los pares craneales::enfermedades del nervio óptico, 3. Good health, OCT, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::degeneraciones espinocerebelosas::ataxia de Friedreich, Friedreich Ataxia, Optic Nerve Diseases, Humans, Atàxia de Friedreich, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Spinocerebellar Degenerations::Friedreich Ataxia, Visual Pathways, Tomography, Optical Coherence, MRI

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36433650
https://hdl.handle.net/11351/10417
http://hdl.handle.net/10609/149239
https://doi.org/10.1002/mds.29277
http://hdl.handle.net/10044/1/103490
https://discovery-pp.ucl.ac.uk/id/eprint/10161167/

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13

Ataxia hereditária progressiva: caso de ataxia de friedreich em irmãos acompanhados na reabilitação pediátrica

Autoren: Fonseca, Marcos Matheus da Silva Nogueira, Caio Henrique Gasparotto Chen, Samuel Fen I et al.

Quelle: Acta Fisiátrica; v. 31 n. Supl.1 (2024); S10-S11 ; 2317-0190 ; 0104-7795

Schlagwörter: Friedreich Ataxia, Neurological Rehabilitation, Pediatrics, Ataxia de Friedreich, Reabilitação Neurológica, Pediatria

Dateibeschreibung: application/pdf

Relation: https://revistas.usp.br/actafisiatrica/article/view/224992/211643; https://revistas.usp.br/actafisiatrica/article/view/224992

Verfügbarkeit: https://revistas.usp.br/actafisiatrica/article/view/224992
https://doi.org/10.11606/issn.2317-0190.v31iSupl.1a224992

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14

Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients

Autoren: Alemany-Perna, Berta Tamarit, Jordi Cabiscol, Elisa et al.

Quelle: Movement Disorders, 2024, VOL. 39, NÚM. 7, P. 1099-1108 ; Articles publicats (D-CM)

Schlagwörter: Atàxia de Friedreich -- Tractament, Friedreich's ataxia -- Treatment, Medicaments -- Ús, Drug utilization

Dateibeschreibung: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/issn/0885-3185; info:eu-repo/semantics/altIdentifier/eissn/1531-8257; PID2020-118296RB-I00; http://hdl.handle.net/10256/25081

Verfügbarkeit: http://hdl.handle.net/10256/25081

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15

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Autoren: Hermann Kreyenberg Necil Kutukculer Barbara Pietrucha et al.

Weitere Verfasser: Hermann Kreyenberg Necil Kutukculer Barbara Pietrucha et al.

Quelle: J Clin Immunol
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Journal of Clinical Immunology, 41, 8, pp. 1878-1892

Schlagwörter: Male, 0301 basic medicine, Epidemiology, Atàxia de Friedreich - Prognosi, PHENOTYPE, Ataxia-telangiectasia, T-Lymphocyte Subsets, T-CELL SUBSETS, Repertoire, Paediatrics - Radboud University Medical Center, OXIDATIVE STRESS, IgG Deficiency, Child, Internal medicine, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Immunology and Microbiology, ddc:610, IMMUNODEFICIENCY, B-Lymphocytes, 0303 health sciences, ERN-RITA, Jeffrey Modell foundation, IgA Deficiency, Life Sciences, Middle Aged, Immunoglobulina A, 3. Good health, DEFICIENCY, 3204 Immunology, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::ataxia cerebelosa::ataxias espinocerebelosas::ataxia telangiectasia, Phenotype, INFECTIONS, 1107 Immunology, T-Cell Subsets, Child, Preschool, Deficiency, Medicine, IgA deficiency, Original Article, Female, Life Sciences & Biomedicine, Receptor, Adult, Adolescent, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Cerebellar Ataxia::Spinocerebellar Ataxias::Ataxia Telangiectasia, Hypogammaglobulinemia, Immunology, Generation, Immunoglobulins, Ataxia Telangiectasia/mortality [MeSH], Immunoglobulin A/blood [MeSH], T-Lymphocyte Subsets/immunology [MeSH], Lymphopenia, Infant [MeSH], Mortality, Male [MeSH], Ataxia Telangiectasia/immunology [MeSH], Child [MeSH], Adolescent [MeSH], Female [MeSH], IgG Deficiency/immunology [MeSH], Immunodeficiency, Immunoglobulin M/blood [MeSH], Adult [MeSH], B-Lymphocytes/immunology [MeSH], Lymphocyte Count [MeSH], Humans [MeSH], Middle Aged [MeSH], IgA Deficiency/immunology [MeSH], Young Adult [MeSH], IgA Deficiency/mortality [MeSH], Immunoglobulin G/blood [MeSH], IgG Deficiency/mortality [MeSH], Child, Preschool [MeSH], Infections, REPERTOIRE, Ataxia Telangiectasia, Young Adult, 03 medical and health sciences, Epidemiology and Management of Cytomegalovirus Infection, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Humans, Lymphocyte Count, Other subheadings::Other subheadings::Other subheadings::/immunology, Molecular Biology, Biology, Antibody, Immune Evasion, Science & Technology, RECEPTOR, Genetic Basis of Primary Immunodeficiency Disorders, FOS: Clinical medicine, Immunity, Infant, CD8, DNA, Immunoglobulin A, Molecular Mechanisms of DNA Damage Response, Oxidative Stress, Otros calificadores::Otros calificadores::Otros calificadores::/inmunología, Immune system, Immunoglobulin M, Atm, ATM, Immunoglobulin G, FOS: Biological sciences, DNA damage, GENERATION

Dateibeschreibung: application/pdf; application/octet-stream; pdf

Zugangs-URL: https://link.springer.com/content/pdf/10.1007/s10875-021-01090-8.pdf
https://pubmed.ncbi.nlm.nih.gov/34477998
https://ddd.uab.cat/record/250449
https://hdl.handle.net/11351/7788
https://hdl.handle.net/20.500.12530/63950
http://hdl.handle.net/10668/18493
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/241476
https://link.springer.com/content/pdf/10.1007/s10875-021-01090-8.pdf
https://eprints.ncl.ac.uk/277024
https://www.ncbi.nlm.nih.gov/pubmed/34477998
https://pubmed.ncbi.nlm.nih.gov/34477998/
https://avesis.ege.edu.tr/yayin/030415c1-efab-40d9-93cb-54c478ac71d8/simple-measurement-of-iga-predicts-immunity-and-mortality-in-ataxia-telangiectasia
https://link.springer.com/article/10.1007/s10875-021-01090-8
https://lirias.kuleuven.be/handle/123456789/681542
https://doi.org/10.1007/s10875-021-01090-8
https://hdl.handle.net/2066/241476
https://repository.ubn.ru.nl//bitstream/handle/2066/241476/241476.pdf
https://hdl.handle.net/10668/18493
https://repository.publisso.de/resource/frl:6446037
https://avesis.uludag.edu.tr/publication/details/030415c1-efab-40d9-93cb-54c478ac71d8/oai
http://publikationen.ub.uni-frankfurt.de/files/63573/container.zip

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16

Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica

Autoren: Alfaro-Olivera, María Calle-Nuñez, Adriana Uribe-León, Alfonso et al.

Quelle: Revista de Neuro-Psiquiatria; Vol. 86 No. 1 (2023): Enero-Marzo; 45-61 ; Revista de Neuro-Psiquiatría; Vol. 86 Núm. 1 (2023): Enero-Marzo; 45-61 ; Revista de Neuro-Psiquiatria; v. 86 n. 1 (2023): Enero-Marzo; 45-61 ; 1609-7394 ; 0034-8597

Schlagwörter: Ataxia de Friedreich, genes recesivos, ataxia, proteínas de unión de hierro, América Latina

Dateibeschreibung: application/pdf; application/xml

Relation: https://revistas.upch.edu.pe/index.php/RNP/article/view/4466/5002; https://revistas.upch.edu.pe/index.php/RNP/article/view/4466/5056; https://revistas.upch.edu.pe/index.php/RNP/article/view/4466

Verfügbarkeit: https://revistas.upch.edu.pe/index.php/RNP/article/view/4466
https://doi.org/10.20453/rnp.v86i1.4466

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17

Ataxia de Marie: en recuerdo de un epónimo clásico caído en desuso

Autoren: Berciano, José Ángel Gazulla, J. Infante Ceberio, Jon et al.

Weitere Verfasser: Berciano, José Ángel Gazulla, J. Infante Ceberio, Jon et al.

Quelle: Neurosciences and History, 2023, 11(4), 185-195

Schlagwörter: Atrofia olivocerebelosa, Ataxia de Friedreich, Ataxia hereditaria, Ataxia cerebelosa hereditaria, Clasificación Internacional de Enfermedades, CIE, Ataxia de Marie, Atrofia olivopontocerebelosa, OMIM, Degeneración espinocerebelosa

Relation: https://hdl.handle.net/10902/32463

Verfügbarkeit: https://hdl.handle.net/10902/32463

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18

Abordaje en la evaluación e intervención logopédica de pacientes con ataxia de Friedreich: revisión bibliográfica

Autoren: Moreno Escobar, Silvia Pérez Naranjo, Narcisa

Quelle: Revista de Investigación en Logopedia, ISSN 2174-5218, Vol. 15, Nº. 2, 2025

Schlagwörter: Ataxia de Friedreich, Ataxia hereditaria, Disartria, Disfagia, Logopedia, Dysarthria, Dysphagia, Friedreich’s ataxia, Hereditary ataxia, Speech therapy

Dateibeschreibung: application/pdf

Relation: https://dialnet.unirioja.es/servlet/oaiart?codigo=10393383

Verfügbarkeit: https://dialnet.unirioja.es/servlet/oaiart?codigo=10393383

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19

Neurotoxicity Induced by Oxidative Stress and Aluminium in Relation to Parkinson’s Disease: A Mitochondrial Bioenergetic Approach by High‐Resolution Respirometry

Autoren: Iglesias González, Javier

Thesis Advisors: Soto Otero, Ramón, 1952-, Méndez Álvarez, Estefanía María Salomé, Universidade de Santiago de Compostela. Facultade de Medicina e Odontoloxía. Departamento de Bioquímica e Bioloxía Molecular

Schlagwörter: Alzheimer, mitocondria, ataxia de Friedreich, esclerosis lateral amiotrófica, concentraciones de metales, Materias::Investigación::32 Ciencias médicas::3299 otras especialidades medicas (especificar)