Associated Papers
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
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
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
Modlin EW et al.
American Journal of Medical Genetics. Part A, 2022
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
Novel Germline Mutations in DNA Damage Repair in Patients with Malignant Pleural Mesotheliomas.
Guo R et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2020
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