Associated Papers
Syndromic Retinitis Pigmentosa: A Narrative Review.
Janáky M et al.
Vision (basel, Switzerland), 2025
Genetic Testing of Movements Disorders: A Review of Clinical Utility.
Yeow D et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024
De novo mtDNA point mutations are common and have a low recurrence risk.
Sallevelt SC et al.
Journal of Medical Genetics, 2017
Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosarcoma cells with mitochondrial dysfunction.
Wojewoda M et al.
Biochemical Pharmacology, 2015
Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.
Watanabe M et al.
Annals of Neurology, 1998
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