Found: 17
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GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4144, doi. 10.1093/brain/awad157
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- Publication type:
- Article
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
- Published in:
- 2020
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- Publication type:
- journal article
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
- Published in:
- Clinical & Translational Medicine, 2024, v. 14, n. 1, p. 1, doi. 10.1002/ctm2.1504
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- Publication type:
- Article
The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 4, p. 446, doi. 10.1111/cge.14482
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- Publication type:
- Article
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5478, doi. 10.1007/s00415-024-12506-x
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- Publication type:
- Article
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 5, p. 2886, doi. 10.1007/s00415-024-12229-z
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- Publication type:
- Article
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 2078, doi. 10.1007/s00415-024-12182-x
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- Publication type:
- Article
Update on leukodystrophies and developing trials.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 1, p. 593, doi. 10.1007/s00415-023-11996-5
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- Publication type:
- Article
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad239
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- Publication type:
- Article
Rheumatoid Meningitis Presenting With Acute Parkinsonism and Protracted Non-convulsive Seizures: An Unusual Case Presentation and Review of Treatment Strategies.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00163
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- Publication type:
- Article
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36654-8
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- Publication type:
- Article
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
- Published in:
- Movement Disorders, 2024, v. 39, n. 3, p. 486, doi. 10.1002/mds.29704
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- Publication type:
- Article
Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B).
- Published in:
- Movement Disorders, 2023, v. 38, n. 10, p. 1950, doi. 10.1002/mds.29560
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- Publication type:
- Article
As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort.
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- Movement Disorders, 2023, v. 38, n. 8, p. 1557, doi. 10.1002/mds.29559
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- Publication type:
- Article
Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
- Published in:
- Movement Disorders, 2023, v. 38, n. 8, p. 1575, doi. 10.1002/mds.29552
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- Publication type:
- Article
Effect of lovastatin on behavior in children and adults with fragile X syndrome: An open-label study.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2834, doi. 10.1002/ajmg.a.36750
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- Publication type:
- Article
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 12, p. 3828, doi. 10.1111/ene.16039
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- Publication type:
- Article