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
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
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype.
Park DG et al.
Cerebellum (london, England), 2023
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.
van der Put J et al.
Neurology. Genetics, 2022
Spinocerebellar ataxias (SCAs) caused by common mutations.
Müller U
Neurogenetics, 2021
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
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 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
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.
Yahikozawa H et al.
Cerebellum (london, England), 2018
Spinocerebellar ataxia type 21 exists in the Chinese Han population.
Zeng S et al.
Scientific Reports, 2016
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
Delplanque J et al.
Brain : a Journal of Neurology, 2014