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Development and Validation of a Prognostic Model to Predict Overall Survival in Multiple System Atrophy.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 9, p. 1368, doi. 10.1002/mdc3.13822
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- 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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- Article
White Matter Changes in Patients with Friedreich Ataxia after Treatment with Erythropoietin.
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- Journal of Neuroimaging, 2014, v. 24, n. 5, p. 504, doi. 10.1111/jon.12050
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- Article
Low Bone Mineral Density in Friedreich Ataxia.
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- Cerebellum, 2014, v. 13, n. 5, p. 549, doi. 10.1007/s12311-014-0568-1
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- Article
Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length.
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- Cerebellum, 2014, v. 13, n. 1, p. 9, doi. 10.1007/s12311-013-0513-8
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- Article
Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.
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- Cerebellum, 2011, v. 10, n. 4, p. 763, doi. 10.1007/s12311-011-0287-9
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- Article
Prediction of the disease course in Friedreich ataxia.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-23666-z
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- Article
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment.
- Published in:
- 2018
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- Publication type:
- journal article
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
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- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2021.799953
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- Publication type:
- Article
Bioenergetics of the Calf Muscle in Friedreich Ataxia Patients Measured by 31P-MRS Before and After Treatment with Recombinant Human Erythropoietin.
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- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069229
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- Article
Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R<sub>2</sub> and R<sub>1</sub> relaxometry.
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- Journal of Neuroscience Research, 2020, v. 98, n. 11, p. 2219, doi. 10.1002/jnr.24701
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- Article
Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia The ALCAT Randomized Clinical Crossover Trial.
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- JAMA Network Open, 2021, v. 4, n. 12, p. 1, doi. 10.1001/jamanetworkopen.2021.35841
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- Article
Autonomic function testing in spinocerebellar ataxia type 2.
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- Clinical Autonomic Research, 2018, v. 28, n. 3, p. 341, doi. 10.1007/s10286-018-0504-4
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- Publication type:
- Article
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial.
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- 2017
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- Publication type:
- journal article
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 4, doi. 10.1002/acn3.51897
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- Article
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2000, doi. 10.1002/acn3.51886
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- Article
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 15, doi. 10.1002/acn3.660
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- Article
Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's ataxia.
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- Human Molecular Genetics, 2023, v. 32, n. 13, p. 2241, doi. 10.1093/hmg/ddad051
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- Article
Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich's ataxia.
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- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1289027
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- Article
Onset features and time to diagnosis in Friedreich's Ataxia.
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- 2020
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- Publication type:
- journal article
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
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- Annals of Neurology, 2021, v. 89, n. 2, p. 212, doi. 10.1002/ana.25934
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- Article
Erythropoietin in Friedreich ataxia.
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- Journal of Neurochemistry, 2013, v. 126, p. 80, doi. 10.1111/jnc.12301
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- Article
Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
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- Journal of Neurochemistry, 2013, v. 126, p. 103, doi. 10.1111/jnc.12317
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- Publication type:
- Article
Natural history of non-polyglutamine CACNA1A disease in Austria.
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- Journal of Neurology, 2024, v. 271, n. 10, p. 6618, doi. 10.1007/s00415-024-12602-y
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- Article
Instrumented gait analysis defines the walking signature of CACNA1A disorders.
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- Journal of Neurology, 2022, v. 269, n. 6, p. 2941, doi. 10.1007/s00415-021-10878-y
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- Article
The electrophysiological footprint of CACNA1A disorders.
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- Journal of Neurology, 2021, v. 268, n. 7, p. 2493, doi. 10.1007/s00415-021-10415-x
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- Article
Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study.
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- Journal of Neurology, 2020, v. 267, n. 4, p. 1097, doi. 10.1007/s00415-019-09684-4
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- Article
Autonomic function testing in Friedreich’s ataxia.
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- Journal of Neurology, 2018, v. 265, n. 9, p. 2015, doi. 10.1007/s00415-018-8946-0
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- Article
Acquired ataxias: the clinical spectrum, diagnosis and management.
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- Journal of Neurology, 2015, v. 262, n. 5, p. 1385, doi. 10.1007/s00415-015-7685-8
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- Article
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
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- Journal of Neurology, 2014, v. 261, n. 5, p. 983, doi. 10.1007/s00415-014-7310-2
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- Article
The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich's ataxia.
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- Journal of Neurology, 2012, v. 259, n. 3, p. 420, doi. 10.1007/s00415-011-6192-9
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- Article
Genetic Determined Iron Starvation Signature in Friedreich's Ataxia.
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- Movement Disorders, 2024, v. 39, n. 7, p. 1088, doi. 10.1002/mds.29819
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- Article
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
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- Movement Disorders, 2024, v. 39, n. 3, p. 510, doi. 10.1002/mds.29687
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- Article
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia.
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- Movement Disorders, 2023, v. 38, n. 4, p. 654, doi. 10.1002/mds.29324
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- Article
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension.
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- Movement Disorders, 2023, v. 38, n. 2, p. 313, doi. 10.1002/mds.29286
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- Article
Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.
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- Neurogenetics, 2021, v. 22, n. 1, p. 81, doi. 10.1007/s10048-020-00624-3
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- Article
Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.
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- Movement Disorders, 2014, v. 29, n. 7, p. 935, doi. 10.1002/mds.25836
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- Article
Safety and Tolerability of Carbamylated Erythropoietin in Friedreich's Ataxia.
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- Movement Disorders, 2014, v. 29, p. 935, doi. 10.1002/mds.25836
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- Publication type:
- Article
Substantia nigra hypoechogenicity in friedreich ataxia.
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- Movement Disorders, 2012, v. 27, n. 2, p. 332, doi. 10.1002/mds.23989
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- Article
Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.
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- Movement Disorders, 2011, v. 26, n. 10, p. 1935, doi. 10.1002/mds.23789
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- Publication type:
- Article