Found: 5
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Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
- Published in:
- Neurological Research & Practice, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42466-022-00169-w
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- Article
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
- Published in:
- Science Translational Medicine, 2020, v. 12, n. 560, p. 1, doi. 10.1126/scitranslmed.aau3960
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- Article
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6410, doi. 10.3390/ijms22126410
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- Article
Novel mutations in the GJC2 gene associated with Pelizaeus–Merzbacher-like disease.
- Published in:
- Molecular Biology Reports, 2019, v. 46, n. 4, p. 4507, doi. 10.1007/s11033-019-04906-4
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- Article
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1514, doi. 10.1002/humu.24064
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- Article