Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Neurodevelopmental SHQ1 variants navigate the control of apoptosis, endoplasmic reticulum stress, and oxidative stress in neuroblastoma cells.
Lee HJ et al.
Neuroscience, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
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
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
Chi CS et al.
Human Genetics, 2023
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
Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants".
Indelicato E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.
AlHargan A et al.
Human Genome Variation, 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
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sleiman S et al.
Human Molecular Genetics, 2022
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