Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.
Sevinç S et al.
Molecular Syndromology, 2022
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Neuropathologic features of pontocerebellar hypoplasia type 6.
Joseph JT et al.
Journal of Neuropathology and Experimental Neurology, 2014
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