Works matching DE "FRIEDREICH'S ataxia"
Results: 1160
Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions.
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- Nature Structural & Molecular Biology, 2013, v. 20, n. 4, p. 486, doi. 10.1038/nsmb.2520
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- Article
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
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- Nature Structural & Molecular Biology, 2009, v. 16, n. 4, p. 390, doi. 10.1038/nsmb.1579
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- Article
Manifestaciones disautonómicas en sujetos presintomáticos y enfermos de ataxia espinocerebelosa tipo 2.
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- Revista Mexicana de Neurociencia, 2011, v. 12, n. 2, p. 76
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- Article
Subclinical rhythmic electrographic discharge of adults (SREDA) in a case with spinocerebellar degeneration improved clinically by thyrotropin-releasing hormone.
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- Psychogeriatrics, 2009, v. 9, n. 1, p. 34, doi. 10.1111/j.1479-8301.2008.00260.x
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- Article
ISCEV extended protocol for the photopic On-Off ERG.
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- Documenta Ophthalmologica, 2018, v. 136, n. 3, p. 199, doi. 10.1007/s10633-018-9645-y
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- Article
Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies.
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- Pediatric Cardiology, 2022, v. 43, n. 1, p. 27, doi. 10.1007/s00246-021-02686-y
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- Article
Myocardial Perfusion Reserve in Children with Friedreich Ataxia.
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- Pediatric Cardiology, 2021, v. 42, n. 8, p. 1834, doi. 10.1007/s00246-021-02675-1
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- Article
Comparative Genetics of Functional Trinucleotide Tandem Repeats in Humans and Apes.
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- Journal of Molecular Evolution, 2004, v. 59, n. 3, p. 329, doi. 10.1007/s00239-004-2628-5
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- Article
Phylogenetic Analysis of the Friedreich Ataxia GAA Trinucleotide Repeat.
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- Journal of Molecular Evolution, 2001, v. 52, n. 3, p. 232, doi. 10.1007/s002390010151
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- Article
Characteristic signal changes in the pontine base on T2- and multishot diffusion-weighted images in spinocerebellar ataxia type 1.
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- Neuroradiology, 2006, v. 48, n. 1, p. 8, doi. 10.1007/s00234-005-0002-y
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- Article
Acute colonic pseudo-obstruction after hysterectomy in a patient with Friedreich ataxia.
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- 2014
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- Case Study
Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains.
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- Acta Neuropathologica, 2023, v. 145, n. 3, p. 265, doi. 10.1007/s00401-022-02535-z
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- Article
The cerebellar component of Friedreich's ataxia.
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- Acta Neuropathologica, 2011, v. 122, n. 3, p. 323, doi. 10.1007/s00401-011-0844-9
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- Article
Axonal inclusions in spinocerebellar ataxia type 3.
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- Acta Neuropathologica, 2010, v. 120, n. 4, p. 449, doi. 10.1007/s00401-010-0717-7
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- Article
Pathology and pathogenesis of sensory neuropathy in Friedreich’s ataxia.
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- Acta Neuropathologica, 2010, v. 120, n. 1, p. 97, doi. 10.1007/s00401-010-0675-0
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- Article
The carboxy-terminal fragment of α<sub>1A</sub> calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.
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- Acta Neuropathologica, 2010, v. 119, n. 4, p. 447, doi. 10.1007/s00401-009-0630-0
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- Article
Rare-disease project has global ambitions.
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- Nature, 2011, v. 472, n. 7341, p. 17, doi. 10.1038/472017a
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- Article
Omaveloxolone for the Treatment of Friedreich’s Ataxia.
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- touchREVIEWS in Neurology, 2023, v. 19, n. 2, p. 10, doi. 10.17925/USN.2023.19.2.2
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- Article
Foreword.
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- touchREVIEWS in Neurology, 2023, v. 19, n. 2, p. 1
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- Article
Mitochondrial iron metabolism in plants: frataxin comes into play.
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- Plant & Soil, 2009, v. 325, n. 1/2, p. 5, doi. 10.1007/s11104-009-0038-6
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- Article
Modelling of Friedreich's Ataxia and other Genetic Disorders as Defective / Noisy Genetic Information Processing.
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- Journal of Ultra Scientist of Physical Sciences - Section A (Mathematics), 2018, v. 30, n. 12, p. 409, doi. 10.22147/jusps-A/301201
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- Article
Evaluation of diaphragm functions with diaphragm ultrasound and pulmonary function tests in individuals with Friedreich's ataxia.
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- Turkish Journal of Medical Sciences, 2023, v. 53, n. 5, p. 1301, doi. 10.55730/1300-0144.5696
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- Article
Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.
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- Journal of Cell Biology, 2010, v. 189, n. 1, p. 143, doi. 10.1083/jcb.200905158
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- Article
Ataxia's double hit.
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- Journal of Cell Biology, 2010, v. 189, n. 1, p. 6, doi. 10.1083/jcb.1891iti2
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- Article
Regulation of retrotranslocation by p97-associated deubiquitinating enzyme ataxin-3.
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- Journal of Cell Biology, 2006, v. 174, n. 7, p. 963, doi. 10.1083/jcb.200605100
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- Article
Glial S100B Protein Modulates Mutant Ataxin-1 Aggregation and Toxicity: TRTK12 Peptide, a Potential Candidate for SCA1 Therapy.
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- Cerebellum, 2011, v. 10, n. 2, p. 254, doi. 10.1007/s12311-011-0262-5
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- Article
A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba.
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- Cerebellum, 2011, v. 10, n. 2, p. 184, doi. 10.1007/s12311-011-0265-2
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- Article
Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia.
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- Cerebellum, 2011, v. 10, n. 1, p. 1, doi. 10.1007/s12311-010-0212-7
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- Article
Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich's Ataxia.
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- Cerebellum, 2011, v. 10, n. 1, p. 9, doi. 10.1007/s12311-010-0215-4
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- Article
An Electrophysiological Study of Visual Processing in Spinocerebellar Ataxia Type 2 (SCA2).
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- Cerebellum, 2011, v. 10, n. 1, p. 32, doi. 10.1007/s12311-010-0220-7
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- Article
Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms.
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- Cerebellum, 2011, v. 10, n. 1, p. 81, doi. 10.1007/s12311-010-0232-3
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- Article
The Neuropathology of Late-Onset Friedreich's Ataxia.
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- Cerebellum, 2011, v. 10, n. 1, p. 96, doi. 10.1007/s12311-010-0235-0
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- Article
Depressive Mood is Associated with Ataxic and Non-Ataxic Neurological Dysfunction in SCA3 Patients.
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- 2010
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- Letter
Depression in Patients with Spinocerebellar Ataxia Type 3 (SCA3).
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- 2010
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- Letter
Difference in the Effects of Tandospirone on Ataxia in Various Types of Spinocerebellar Degeneration: An Open-Label Study.
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- 2010
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- Letter
Neuropsychological Features of Patients with Spinocerebellar Ataxia (SCA) Types 1, 2, 3, and 6.
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- Cerebellum, 2010, v. 9, n. 3, p. 433, doi. 10.1007/s12311-010-0183-8
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- Article
Ocular Motor Fixation Deficits in Friedreich Ataxia.
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- Cerebellum, 2010, v. 9, n. 3, p. 411, doi. 10.1007/s12311-010-0178-5
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- Article
Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias.
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- Cerebellum, 2010, v. 9, n. 2, p. 148, doi. 10.1007/s12311-009-0144-2
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- Article
14-3-3 Proteins and Spinocerebellar Ataxia Type 1: from Molecular Interaction to Human Neuropathology.
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- Cerebellum, 2010, v. 9, n. 2, p. 183, doi. 10.1007/s12311-010-0158-9
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- Article
Structural Changes Associated with Progression of Motor Deficits in Spinocerebellar Ataxia 17.
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- Cerebellum, 2010, v. 9, n. 2, p. 210, doi. 10.1007/s12311-009-0150-4
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- Article
Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study.
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- Cerebellum, 2010, v. 9, n. 2, p. 232, doi. 10.1007/s12311-010-0155-z
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- Article
Friedreich’s Ataxia: From the (GAA)<sub> n</sub> Repeat Mediated Silencing to New Promising Molecules for Therapy.
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- Cerebellum, 2009, v. 8, n. 3, p. 245, doi. 10.1007/s12311-008-0084-2
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- Article
The Ataxic Syrian Hamster: An Animal Model Homologous to the pcd Mutant Mouse?
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- Cerebellum, 2009, v. 8, n. 3, p. 202, doi. 10.1007/s12311-009-0113-9
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- Article
Two Young Sisters with Spinocerebellar Ataxia Type 2 Showing Different Clinical Progression of Disease.
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- Cerebellum, 2009, v. 8, n. 2, p. 127, doi. 10.1007/s12311-008-0080-6
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- Article
Spinocerebellar Ataxia Type 23: A Genetic Update.
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- Cerebellum, 2009, v. 8, n. 2, p. 104, doi. 10.1007/s12311-008-0085-1
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- Article
Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression.
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- Cerebellum, 2008, v. 7, n. 3, p. 360, doi. 10.1007/s12311-008-0036-x
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- Article
Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4).
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- Cerebellum, 2008, v. 7, n. 2, p. 170, doi. 10.1007/s12311-008-0016-1
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- Article
Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes.
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- Cerebellum, 2008, v. 7, n. 2, p. 150, doi. 10.1007/s12311-008-0010-7
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- Article
Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.
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- Cerebellum, 2008, v. 7, n. 2, p. 106, doi. 10.1007/s12311-008-0009-0
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- Article
Spinocerebellar ataxia 2 (SCA2).
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- Cerebellum, 2008, v. 7, n. 2, p. 115, doi. 10.1007/s12311-008-0019-y
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- Article