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C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia.
- Published in:
- Movement Disorders, 2012, v. 27, n. 14, p. 1835, doi. 10.1002/mds.25245
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- Publication type:
- Article
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
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- Journal of Child Neurology, 2018, v. 33, n. 6, p. 397, doi. 10.1177/0883073818764941
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- Publication type:
- Article
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
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- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6848, doi. 10.1093/hmg/ddu408
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- Publication type:
- Article
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu408
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- Publication type:
- Article
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
- Published in:
- 2016
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- Publication type:
- journal article
Correction to: α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
- Published in:
- 2021
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- Publication type:
- Correction Notice
α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 3, p. 495, doi. 10.1007/s00401-021-02324-0
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- Publication type:
- Article
Frataxin levels in peripheral tissue in Friedreich ataxia.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 831, doi. 10.1002/acn3.225
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- Article
Reply.
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- Annals of Neurology, 1983, v. 14, n. 5, p. 597, doi. 10.1002/ana.410140525
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- Publication type:
- Article
Evoked potential abnormalities in the various inherited ataxias.
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- Annals of Neurology, 1983, v. 13, n. 1, p. 20, doi. 10.1002/ana.410130106
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- Publication type:
- Article
P4‐182: NEURONAL AND OLIGODENDROGLIAL EXOSOMAL α‐SYNUCLEIN DISTINGUISHES PARKINSON'S DISEASE FROM MULTIPLE SYSTEM ATROPHY.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1345, doi. 10.1016/j.jalz.2019.06.3844
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- Publication type:
- Article
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
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- Journal of Neurology, 2024, v. 271, n. 7, p. 3743, doi. 10.1007/s00415-024-12475-1
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- Publication type:
- Article
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
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- Journal of Neurology, 2024, v. 271, n. 4, p. 1844, doi. 10.1007/s00415-023-12118-x
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- Publication type:
- Article
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
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- Cerebellum, 2024, v. 23, n. 4, p. 1411, doi. 10.1007/s12311-023-01651-0
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- Publication type:
- Article
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
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- Cerebellum, 2023, v. 22, n. 5, p. 790, doi. 10.1007/s12311-022-01424-1
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- Publication type:
- Article
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-177
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- Publication type:
- Article
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
- Published in:
- 2013
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- Publication type:
- journal article
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts.
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- Cancer Medicine, 2023, v. 12, n. 13, p. 14663, doi. 10.1002/cam4.6075
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- Publication type:
- Article
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
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- Human Molecular Genetics, 2017, v. 26, n. 14, p. 2627, doi. 10.1093/hmg/ddx141
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- Publication type:
- Article
FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
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- Annals of Neurology, 2012, v. 71, n. 4, p. 487, doi. 10.1002/ana.22671
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- Publication type:
- Article
Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
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- Annals of Neurology, 1997, v. 42, n. 6, p. 933, doi. 10.1002/ana.410420616
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- Publication type:
- Article
Comorbid Medical Conditions in Friedreich Ataxia.
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- Journal of Child Neurology, 2016, v. 31, n. 9, p. 1161, doi. 10.1177/0883073816643408
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- Publication type:
- Article
A Review of Friedreich Ataxia Clinical Trial Results.
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- Journal of Child Neurology, 2012, v. 27, n. 9, p. 1217, doi. 10.1177/0883073812453872
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- Publication type:
- Article
Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions.
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- Journal of Child Neurology, 2012, v. 27, n. 9, p. 1095, doi. 10.1177/0883073812448840
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- Publication type:
- Article
Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma.
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- Journal of Child Neurology, 2012, v. 27, n. 9, p. 1159, doi. 10.1177/0883073812448460
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- Publication type:
- Article
α‐Synuclein in oligodendroglia and neuron‐derived blood exosomes distinguishes between synucleinopathies.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.056619
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- Publication type:
- Article
Corrigendum: Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.
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- 2007
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- Publication type:
- Correction notice
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.
- Published in:
- Nature Chemical Biology, 2006, v. 2, n. 10, p. 551, doi. 10.1038/nchembio815
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- Publication type:
- Article