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Inflammatory profile in X-linked adrenoleukodystrophy patients: Understanding disease progression.
- Published in:
- Journal of Cellular Biochemistry, 2018, v. 119, n. 1, p. 1223, doi. 10.1002/jcb.26295
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- Publication type:
- Article
A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease.
- Published in:
- Movement Disorders, 2014, v. 29, n. 4, p. 568, doi. 10.1002/mds.25803
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- Publication type:
- Article
Nonmotor and extracerebellar features in Machado-Joseph disease: A review.
- Published in:
- Movement Disorders, 2013, v. 28, n. 9, p. 1200, doi. 10.1002/mds.25513
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- Publication type:
- Article
Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3.
- Published in:
- Movement Disorders, 2011, v. 26, n. 4, p. 731, doi. 10.1002/mds.23428
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- Publication type:
- Article
Subcutaneous insulin-like growth factor-1 treatment in spinocerebellar ataxias: An open label clinical trial.
- Published in:
- Movement Disorders, 2011, v. 26, n. 2, p. 358, doi. 10.1002/mds.23423
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- Publication type:
- Article
Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents.
- Published in:
- 2013
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- Publication type:
- Journal Article
Chromosome Instability and Oxidative Stress Markers in Patients with Ataxia Telangiectasia and Their Parents.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/762048
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- Publication type:
- Article
Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
- Published in:
- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00485
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- Publication type:
- Article
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.
- Published in:
- 2018
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- Publication type:
- journal article
A Prospective Study of SCA3 Gait Ataxia Described through a Markovian Method.
- Published in:
- Neuroepidemiology, 2010, v. 34, n. 3, p. 163, doi. 10.1159/000279333
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- Publication type:
- Article
A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1296614
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- Publication type:
- Article
Normal ATXN3 allele but not CHIP polymorphisms modulates age at onset in Machado-Joseph disease.
- Published in:
- Frontiers in Neurology, 2012, v. 3, p. 1, doi. 10.3389/fneur.2012.00164
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- Publication type:
- Article
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
- Published in:
- 2016
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- Publication type:
- journal article
Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta‐analysis.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 258, doi. 10.1111/cge.13978
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- Publication type:
- Article
Selective forces acting on spinocerebellar ataxia type 3/Machado–Joseph disease recurrency: A systematic review and meta‐analysis.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 347, doi. 10.1111/cge.13888
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- Publication type:
- Article
The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 9, p. 4276, doi. 10.1007/s00415-023-11763-6
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- Publication type:
- Article
Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1179287
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- Publication type:
- Article
Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034195
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- Publication type:
- Article
Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10).
- Published in:
- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004553
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- Publication type:
- Article
The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy.
- Published in:
- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02762-6
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- Publication type:
- Article
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.
- Published in:
- Cerebellum, 2023, v. 22, n. 4, p. 708, doi. 10.1007/s12311-022-01442-z
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- Publication type:
- Article
Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease.
- Published in:
- Cerebellum, 2023, v. 22, n. 3, p. 348, doi. 10.1007/s12311-022-01404-5
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- Publication type:
- Article
Remote Measurement of Functional Status in Pre-symptomatic and Symptomatic Individuals with Machado-Joseph Disease.
- Published in:
- Cerebellum, 2023, v. 22, n. 3, p. 475, doi. 10.1007/s12311-022-01399-z
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- Publication type:
- Article
Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease.
- Published in:
- Cerebellum, 2022, v. 21, n. 2, p. 297, doi. 10.1007/s12311-021-01299-8
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- Publication type:
- Article
Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.
- Published in:
- Cerebellum, 2021, v. 20, n. 6, p. 946, doi. 10.1007/s12311-021-01258-3
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- Publication type:
- Article
Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.
- Published in:
- Cerebellum, 2020, v. 19, n. 3, p. 446, doi. 10.1007/s12311-020-01109-7
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- Publication type:
- Article
Correction to: Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.
- Published in:
- Cerebellum, 2020, v. 19, n. 2, p. 208, doi. 10.1007/s12311-019-01098-2
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- Publication type:
- Article
Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients—the Brazilian Experience.
- Published in:
- Cerebellum, 2019, v. 18, n. 6, p. 1143, doi. 10.1007/s12311-019-01055-z
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- Publication type:
- Article
Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Selective Forces Related to Spinocerebellar Ataxia Type 2.
- Published in:
- Cerebellum, 2019, v. 18, n. 2, p. 188, doi. 10.1007/s12311-018-0977-7
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- Publication type:
- Article
Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.
- Published in:
- Cerebellum, 2019, v. 18, n. 1, p. 147, doi. 10.1007/s12311-018-0958-x
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- Publication type:
- Article
Progression Rate of Neurological Deficits in a 10-Year Cohort of SCA3 Patients.
- Published in:
- Cerebellum, 2010, v. 9, n. 3, p. 419, doi. 10.1007/s12311-010-0179-4
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- Publication type:
- Article
Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease.
- Published in:
- NeuroMolecular Medicine, 2020, v. 22, n. 1, p. 133, doi. 10.1007/s12017-019-08572-4
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- Publication type:
- Article
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Challenges in quantifying ataxia in core and comorbid early onset ataxias.
- Published in:
- Developmental Medicine & Child Neurology, 2017, v. 59, n. 4, p. 350, doi. 10.1111/dmcn.13305
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- Publication type:
- Article
Challenges in quantifying ataxia in core and comorbid early onset ataxias.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A survey of spinocerebellar ataxia in South Brazil – 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease–causing mutations.
- Published in:
- Journal of Neurology, 2001, v. 248, n. 10, p. 870, doi. 10.1007/s004150170072
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- Publication type:
- Article
Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 9, p. 1906, doi. 10.1007/s12031-021-01877-9
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- Publication type:
- Article
Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado‐Joseph Disease.
- Published in:
- Movement Disorders, 2023, v. 38, n. 1, p. 26, doi. 10.1002/mds.29226
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- Publication type:
- Article
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.
- Published in:
- Movement Disorders, 2022, v. 37, n. 6, p. 1125, doi. 10.1002/mds.29032
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- Publication type:
- Article
Pre‐ataxic Changes of Clinical Scales and Eye Movement in Machado–Joseph Disease: BIGPRO Study.
- Published in:
- Movement Disorders, 2021, v. 36, n. 4, p. 985, doi. 10.1002/mds.28466
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- Publication type:
- Article
IN VITRO EFFECT OF N-ACETYL-L-CYSTEINE ON GLUTATHIONE AND SULFHYDRYL LEVELS IN X-LINKED ADRENOLEUKODYSTROPHY PATIENTS.
- Published in:
- Clinical & Biomedical Research, 2017, v. 37, n. 1, p. 33, doi. 10.4322/2357-9730.69868
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- Publication type:
- Article
The progression rate of spinocerebellar ataxia type 3 varies with disease stage.
- Published in:
- 2022
- By:
- Publication type:
- journal article