Associated Papers
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population.
Gowda VK et al.
Journal of Family Medicine and Primary Care, 2024
Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants.
Revert Barberà A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia.
Joo JY et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.
Indelicato E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
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