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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
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 12, p. 1, doi. 10.1371/journal.pgen.1003074
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- Publication type:
- Article
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
- Published in:
- 2015
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- Publication type:
- journal article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3106, doi. 10.1093/brain/awt236
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- Publication type:
- Article
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
- Published in:
- Movement Disorders, 2024, v. 39, n. 1, p. 141, doi. 10.1002/mds.29651
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- Publication type:
- Article