Associated Papers
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.
Mengel D et al.
Journal of Neurology, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Park J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease.
Quesada AE et al.
American Journal of Hematology, 2019
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