Associated Papers
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.
Hayashi Y et al.
Journal of Human Genetics, 2025
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR et al.
Bmc Medical Genomics, 2024
What connects splicing of transfer RNA precursor molecules with pontocerebellar hypoplasia?
Sekulovski S et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.
Sekulovski S et al.
Nature Communications, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.
Qian Y et al.
Molecular Medicine Reports, 2014
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
Bierhals T et al.
European Journal of Medical Genetics, 2013
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Namavar Y et al.
Orphanet Journal of Rare Diseases, 2011
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y et al.
Brain : a Journal of Neurology, 2011
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia.
Bailey KA et al.
Clinical Genetics, 2009
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS et al.
Nature Genetics, 2008
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