Associated Papers
Genetics and Epigenetics of Obsessive-Compulsive Disorder.
Bernoni d'Aversa F et al.
Genes, 2026
Enriching for Answers in Rare Diseases.
Fu Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pontocerebellar hypoplasia: a review from 1912 to 2022.
Kukulka NA et al.
Brain Communications, 2025
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
Gavaz M et al.
Journal of Neurogenetics, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
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
New insights into RNA processing by the eukaryotic tRNA splicing endonuclease.
Hayne CK et al.
The Journal of Biological Chemistry, 2023
Messenger RNA Translation Defects in Neurodegenerative Diseases.
Storkebaum E et al.
The New England Journal of Medicine, 2023
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
Recent insights into the structure, function, and regulation of the eukaryotic transfer RNA splicing endonuclease complex.
Hayne CK et al.
Wiley Interdisciplinary Reviews. Rna, 2022
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration.
LaForce GR et al.
Neuron, 2022
Mutations in Drosophila tRNA processing factors cause phenotypes similar to Pontocerebellar Hypoplasia.
Schmidt CA et al.
Biology Open, 2022
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Amin M et al.
Frontiers in Genetics, 2022
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T et al.
American Journal of Human Genetics, 2021
The Clp1 R140H mutation alters tRNA metabolism and mRNA 3' processing in mouse models of pontocerebellar hypoplasia.
Monaghan CE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.
Sekulovski S et al.
Nature Communications, 2021
Modeling a human CLP1 mutation in mouse identifies an accumulation of tyrosine pre-tRNA fragments causing pontocerebellar hypoplasia type 10.
Morisaki I et al.
Biochemical and Biophysical Research Communications, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Pontocerebellar Hypoplasia: a Pattern Recognition Approach.
Rüsch CT et al.
Cerebellum (london, England), 2020
Tyrosine pre-transfer RNA fragments are linked to p53-dependent neuronal cell death via PKM2.
Inoue M et al.
Biochemical and Biophysical Research Communications, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
van Dijk T et al.
Orphanet Journal of Rare Diseases, 2018
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.
Wafik M et al.
European Journal of Medical Genetics, 2018
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.
Bennett CL et al.
Advances in Neurobiology, 2018
RNA metabolism in neurodegenerative disease.
Liu EY et al.
Disease Models & Mechanisms, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Bayram Y et al.
American Journal of Medical Genetics. Part A, 2014
Disease genetics: tRNA splicing defect underlies brain disorder.
Koch L
Nature Reviews. Genetics, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Karaca E et al.
Cell, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Schaffer AE et al.
Cell, 2014
CLP1 as a novel player in linking tRNA splicing to neurodegenerative disorders.
Weitzer S et al.
Wiley Interdisciplinary Reviews. Rna, 0