Found: 7
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Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1436, doi. 10.1111/j.1528-1167.2012.03536.x
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- Article
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2373, doi. 10.3390/ijms23042373
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- Article
Variable Myopathic Presentation in a Single Family with Novel Skeletal <i>RYR1</i> Mutation.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069296
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- Article
Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03270-2
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- Article
Inhibition of nonsense-mediated mRNA decay may improve stop codon read-through therapy for Duchenne muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 15, p. 2455, doi. 10.1093/hmg/ddad072
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- Article
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4287, doi. 10.1038/ncomms5287
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- Article
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 25, doi. 10.1007/s10048-015-0464-y
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- Article