Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Dystonic Tremor as Main Clinical Manifestation of SCA21.
Yahya V et al.
Movement Disorders Clinical Practice, 2024
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
Sorrentino U et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024
The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype.
Park DG et al.
Cerebellum (london, England), 2023
Pearls & Oy-sters: SCA21 Due to TMEM240 Variation Presenting as Myoclonus Dystonia Syndrome.
Cherian A et al.
Neurology, 2022
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
Riso V et al.
European Journal of Neurology, 2021
The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).
Burdekin ED et al.
Journal of Child Neurology, 2020
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
Traschütz A et al.
Parkinsonism & Related Disorders, 2019
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