Found: 18
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
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- Publication type:
- Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
- Published in:
- 2020
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- Publication type:
- journal article
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
- Published in:
- 2020
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- Publication type:
- journal article
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
- Published in:
- 2021
- By:
- Publication type:
- journal article
NOTCH2NLC Intermediate‐Length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 3, p. 633, doi. 10.1002/ana.26003
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- Publication type:
- Article
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.
- Published in:
- 2020
- By:
- Publication type:
- letter
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 1002, doi. 10.1002/acn3.51330
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- Publication type:
- Article
Neuronal intranuclear inclusion disease is genetically heterogeneous.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1716, doi. 10.1002/acn3.51151
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- Publication type:
- Article
Spinocerebellar ataxia: an update.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 2, p. 533, doi. 10.1007/s00415-018-9076-4
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- Publication type:
- Article
Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction.
- Published in:
- Science Translational Medicine, 2023, v. 15, n. 694, p. 1, doi. 10.1126/scitranslmed.adg3904
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- Publication type:
- Article
An optimised saliva collection method to produce high-yield, high-quality RNA for translational research.
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0229791
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- Publication type:
- Article
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
- Published in:
- Movement Disorders, 2021, v. 36, n. 1, p. 251, doi. 10.1002/mds.28302
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- Publication type:
- Article
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
- Published in:
- 2020
- By:
- Publication type:
- letter
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.
- Published in:
- 2020
- By:
- Publication type:
- letter
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
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- Publication type:
- Article
Replacement of fishmeal with a microbial single‐cell protein induced enteropathy and poor growth outcomes in barramundi (Lates calcarifer) fry.
- Published in:
- Journal of Fish Diseases, 2024, v. 47, n. 9, p. 1, doi. 10.1111/jfd.13985
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- Publication type:
- Article
DNA repair in trinucleotide repeat ataxias.
- Published in:
- FEBS Journal, 2018, v. 285, n. 19, p. 3669, doi. 10.1111/febs.14644
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- Publication type:
- Article