Found: 5
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Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006232
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- Publication type:
- Article
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
- Published in:
- 2018
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- Publication type:
- journal article
Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 3, p. 382, doi. 10.1111/j.1469-1809.2009.00507.x
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- Publication type:
- Article
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
- Published in:
- EMBO Reports, 2007, v. 8, n. 7, p. 691, doi. 10.1038/sj.embor.7401001
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- Publication type:
- Article
Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes.
- Published in:
- American Journal of Human Biology, 2017, v. 29, n. 2, p. n/a, doi. 10.1002/ajhb.22930
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- Publication type:
- Article