Works matching DE "FRIEDREICH'S ataxia"
Results: 1160
Feedforward postural muscle modes and multi-mode coordination in mild cerebellar ataxia.
- Published in:
- Experimental Brain Research, 2011, v. 210, n. 1, p. 153, doi. 10.1007/s00221-011-2613-3
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- Article
Supervised learning of postural tasks in patients with poststroke hemiparesis, Parkinson’s disease or cerebellar ataxia.
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- Experimental Brain Research, 2006, v. 168, n. 3, p. 384, doi. 10.1007/s00221-005-0096-9
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- Article
Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study.
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- Experimental Brain Research, 2005, v. 162, n. 3, p. 332, doi. 10.1007/s00221-004-2181-x
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- Article
Combinations of physical and cognitive training for subcortical neurodegenerative diseases with physical, cognitive and behavioral symptoms: a systematic review.
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- Neurological Sciences, 2024, v. 45, n. 12, p. 5571, doi. 10.1007/s10072-024-07808-x
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- Publication type:
- Article
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.
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- Neurological Sciences, 2024, v. 45, n. 3, p. 1283, doi. 10.1007/s10072-023-07104-0
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- Article
Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7.
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- Neurological Sciences, 2024, v. 45, n. 2, p. 799, doi. 10.1007/s10072-023-07117-9
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- Article
Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages.
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- 2022
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- Publication type:
- journal article
Fluctuating ataxia caused by mitochondrial tRNA (Lys) gene m.8363G > A variant.
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- Neurological Sciences, 2022, v. 43, n. 11, p. 6589, doi. 10.1007/s10072-022-06246-x
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- Article
NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
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- 2020
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- Publication type:
- Letter
Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich's ataxia.
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- 2020
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- Publication type:
- journal article
A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome.
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- 2020
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- Publication type:
- Case Study
Highlights of the issue 7, 2019.
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- 2019
- Publication type:
- journal article
Degenerative and acquired sporadic adult onset ataxia.
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- 2019
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- Publication type:
- journal article
Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.
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- 2018
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- Publication type:
- Case Study
A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study.
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- 2017
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- Publication type:
- journal article
GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients.
- Published in:
- 2016
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- Publication type:
- journal article
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia.
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- Neurological Sciences, 2013, v. 34, n. 8, p. 1459, doi. 10.1007/s10072-013-1402-0
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- Publication type:
- Article
Anatomy and development of the craniovertebral junction.
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- Neurological Sciences, 2011, v. 32, p. 267, doi. 10.1007/s10072-011-0693-2
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- Publication type:
- Article
Variations of frataxin protein levels in normal individuals.
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- Neurological Sciences, 2011, v. 32, n. 2, p. 327, doi. 10.1007/s10072-010-0326-1
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- Publication type:
- Article
Left ventricular unloading with transaortic Impella 2.5 implantation in a pediatric patient supported by extracorporeal life support.
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- Artificial Organs, 2021, v. 45, n. 5, p. 524, doi. 10.1111/aor.13862
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- Publication type:
- Article
Feasibility of Implantable Cardioverter Defibrillator Treatment in Five Patients With Familial Friedreich's Ataxia-A Case Series.
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- Artificial Organs, 2010, v. 34, n. 11, p. 1061, doi. 10.1111/j.1525-1594.2010.01140.x
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- Publication type:
- Article
Expression and processing of mature human frataxin after gene therapy in mice.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59060-0
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- Publication type:
- Article
Is Social Training Delivered with a Head-Mounted Display Suitable for Patients with Hereditary Ataxia?
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- Brain Sciences (2076-3425), 2023, v. 13, n. 7, p. 1017, doi. 10.3390/brainsci13071017
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- Article
Use of Riluzole for the Treatment of Hereditary Ataxias: A Systematic Review.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 8, p. 1040, doi. 10.3390/brainsci12081040
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- Publication type:
- Article
Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative Diseases.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 2, p. 119, doi. 10.3390/brainsci10020119
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- Publication type:
- Article
DNA Base Damage Repair Crosstalks with Chromatin Structures to Contract Expanded GAA Repeats in Friedreich's Ataxia.
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- Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 809, doi. 10.3390/biom14070809
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- Publication type:
- Article
Blood Transcript Biomarkers Selected by Machine Learning Algorithm Classify Neurodegenerative Diseases including Alzheimer's Disease.
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- Biomolecules (2218-273X), 2022, v. 12, n. 11, p. 1592, doi. 10.3390/biom12111592
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- Publication type:
- Article
Cerebral Iron Deposition in Neurodegeneration.
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- Biomolecules (2218-273X), 2022, v. 12, n. 5, p. 714, doi. 10.3390/biom12050714
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- Publication type:
- Article
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
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- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1578, doi. 10.3390/biom11111578
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- Publication type:
- Article
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.
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- Biomolecules (2218-273X), 2020, v. 10, n. 11, p. 1551, doi. 10.3390/biom10111551
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- Article
An Overview of the Ferroptosis Hallmarks in Friedreich's Ataxia.
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- Biomolecules (2218-273X), 2020, v. 10, n. 11, p. 1489, doi. 10.3390/biom10111489
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- Publication type:
- Article
Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.
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- Biomolecules (2218-273X), 2020, v. 10, n. 5, p. 702, doi. 10.3390/biom10050702
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- Publication type:
- Article
Probing the Kinetic Stabilities of Friedreich's Ataxia Clinical Variants Using a Solid Phase GroEL Chaperonin Capture Platform.
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- Biomolecules (2218-273X), 2014, v. 4, n. 4, p. 956, doi. 10.3390/biom4040956
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- Publication type:
- Article
Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes.
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- Texas Heart Institute Journal, 2016, v. 43, n. 4, p. 305, doi. 10.14503/THIJ-14-4198
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- Article
Mortality in Friedreich's Ataxia.
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- 2007
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- Publication type:
- Letter
Mortality in Friedreich's Ataxia.
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- 2007
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- Publication type:
- Letter
Friedreich's Ataxia as a Cause of Premature Coronary Artery Disease.
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- 2007
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- Publication type:
- Case Study
Friedreich's ataxia – a case of aberrant transcription termination?
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- Transcription (2154-1264), 2015, v. 6, n. 2, p. 33, doi. 10.1080/21541264.2015.1026538
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- Publication type:
- Article
Nanoscopic X‐ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients.
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- Journal of Synchrotron Radiation, 2020, v. 27, n. 1, p. 185, doi. 10.1107/S1600577519015510
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- Article
MR spectroscopy and atrophy in Gluten, Friedreich's and SCA6 ataxias.
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- Acta Neurologica Scandinavica, 2012, v. 126, n. 2, p. 138, doi. 10.1111/j.1600-0404.2011.01620.x
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- Article
Subclinical pulmonary dysfunction in spinocerebellar ataxias 1, 2 and 3.
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- Acta Neurologica Scandinavica, 2010, v. 122, n. 5, p. 323, doi. 10.1111/j.1600-0404.2009.01306.x
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- Publication type:
- Article
Heart rate variability in type 2 spinocerebellar ataxia.
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- Acta Neurologica Scandinavica, 2010, v. 122, n. 5, p. 329, doi. 10.1111/j.1600-0404.2009.01320.x
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- Publication type:
- Article
A comparative study of cardiac dysautonomia in autosomal dominant spinocerebellar ataxias and idiopathic sporadic ataxias.
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- Acta Neurologica Scandinavica, 2009, v. 120, n. 3, p. 204, doi. 10.1111/j.1600-0404.2008.01144.x
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- Article
Spinocerebellar ataxia type 8 in Scotland: frequency, neurological, neuropsychological and neuropsychiatric findings.
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- Acta Neurologica Scandinavica, 2008, v. 117, n. 1, p. 41, doi. 10.1111/j.1600-0404.2007.00904.x
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- Publication type:
- Article
Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan.
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- Acta Neurologica Scandinavica, 2007, v. 116, n. 2, p. 123, doi. 10.1111/j.1600-0404.2007.00815.x
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- Publication type:
- Article
Clinical and molecular events in patients with Machado–Joseph disease under lamotrigine therapy.
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- Acta Neurologica Scandinavica, 2005, v. 111, n. 6, p. 385, doi. 10.1111/j.1600-0404.2005.00405.x
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- Publication type:
- Article
Spinocerebellar ataxia type 17 in the Yugoslav population.
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- Acta Neurologica Scandinavica, 2004, v. 109, n. 3, p. 185, doi. 10.1034/j.1600-0404.2003.00196.x
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- Publication type:
- Article
Expanded GAA repeats and clinical variation in Friedreich's ataxia.
- Published in:
- Acta Neurologica Scandinavica, 2004, v. 109, n. 1, p. 75, doi. 10.1034/j.1600-0404.2003.00190.x
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- Publication type:
- Article
SPATAX- European Network for Hereditary Spinocerebellar Degenerative Disorders.
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- Acta Neurologica Scandinavica, 2003, v. 107, n. 6, p. 432, doi. 10.1034/j.1600-0404.2003.00125_18.x
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- Publication type:
- Article
Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study.
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- Acta Neurologica Scandinavica, 2003, v. 107, n. 3, p. 207, doi. 10.1034/j.1600-0404.2003.02132.x
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- Publication type:
- Article