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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3822, doi. 10.1093/hmg/ddn280
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- Article
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.
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- EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809091
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- Article
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 779, doi. 10.1038/sj.ejhg.5201831
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- Article
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 196, doi. 10.1111/cge.14438
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- Article
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 11, p. 3032, doi. 10.1093/brain/awm242
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- Article
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2605, doi. 10.1002/ajmg.a.61836
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- Article
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1362, doi. 10.1002/ajmg.a.61186
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- Article
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54866-4
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- Article