Associated Papers
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.
Cuillerier A et al.
Annals of Clinical and Translational Neurology, 2025
Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms.
Botta S et al.
The Embo Journal, 2023
Determining the effects of loss of function mutations in human cell lines.
de Prisco N et al.
Star Protocols, 2022
Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene.
Lee W et al.
Star Protocols, 2022
Spinocerebellar ataxias (SCAs) caused by common mutations.
Müller U
Neurogenetics, 2021
Human Pumilio proteins directly bind the CCR4-NOT deadenylase complex to regulate the transcriptome.
Enwerem III et al.
Rna (new York, N.y.), 2021
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.
Lai KL et al.
Parkinsonism & Related Disorders, 2019
Post-transcriptional Regulatory Functions of Mammalian Pumilio Proteins.
Goldstrohm AC et al.
Trends in Genetics : Tig, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Gennarino VA et al.
Cell, 2018
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