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Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
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1p/19q codeletion and IDH1/2 mutation identified a subtype of anaplastic oligoastrocytomas with prognosis as favorable as anaplastic oligodendrogliomas.Neuro Oncol. 2013 Jun;15(6):775-82. doi: 10.1093/neuonc/not027. Epub 2013 Mar 13.
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.Brain Dev. 2019 Feb;41(2):150-157. doi: 10.1016/j.braindev.2018.09.007. Epub 2018 Oct 6.
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Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.J Neurol Sci. 2013 Dec 15;335(1-2):134-8. doi: 10.1016/j.jns.2013.09.014. Epub 2013 Sep 17.
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Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan.Chin J Physiol. 2014 Apr 30;57(2):83-9. doi: 10.4077/CJP.2014.BAC228.
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Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.Neurogenetics. 2010 Feb;11(1):91-100. doi: 10.1007/s10048-009-0206-0. Epub 2009 Jul 11.
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.BMC Med Genet. 2011 Feb 16;12:27. doi: 10.1186/1471-2350-12-27.
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Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).Cerebellum. 2019 Jun;18(3):448-456. doi: 10.1007/s12311-019-01012-w.
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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
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Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14.
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20.
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Investigation of recessive ataxia loci in patients with young age of onset.Neuropediatrics. 2007 Aug;38(4):207-9. doi: 10.1055/s-2007-990268.
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Autosomal recessive cerebellar ataxias.Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47.
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Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.Reprod Biomed Online. 2019 Jun;38(6):961-965. doi: 10.1016/j.rbmo.2018.12.042. Epub 2019 Jan 9.
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Association of specific gene mutations derived from machine learning with survival in lung adenocarcinoma.PLoS One. 2018 Nov 12;13(11):e0207204. doi: 10.1371/journal.pone.0207204. eCollection 2018.
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Unwinding the role of senataxin in neurodegeneration.Discov Med. 2015 Feb;19(103):127-36.
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Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations.Nat Commun. 2018 Feb 7;9(1):533. doi: 10.1038/s41467-018-02894-w.
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Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.J Neurol Sci. 2009 Mar 15;278(1-2):77-81. doi: 10.1016/j.jns.2008.12.004. Epub 2009 Jan 11.
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Repeatability of radiomics and machine learning for DWI: Short-term repeatability study of 112 patients with prostate cancer.Magn Reson Med. 2020 Jun;83(6):2293-2309. doi: 10.1002/mrm.28058. Epub 2019 Nov 8.
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SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.Neuromuscul Disord. 2012 Mar;22(3):258-62. doi: 10.1016/j.nmd.2011.09.006. Epub 2011 Nov 15.
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Associations between HLA class I and cytochrome P450 2C9 genetic polymorphisms and phenytoin-related severe cutaneous adverse reactions in a Thai population.Pharmacogenet Genomics. 2016 May;26(5):225-34. doi: 10.1097/FPC.0000000000000211.
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Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy.Nucleic Acids Res. 2018 Sep 19;46(16):8326-8346. doi: 10.1093/nar/gky641.
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A Nanostructured Lipid System to Improve the Oral Bioavailability of Ruthenium(II) Complexes for the Treatment of Infections Caused by Mycobacterium tuberculosis.Front Microbiol. 2018 Dec 6;9:2930. doi: 10.3389/fmicb.2018.02930. eCollection 2018.
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Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.Muscle Nerve. 2009 Sep;40(3):481-5. doi: 10.1002/mus.21328.
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Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.JAMA Neurol. 2018 Jul 1;75(7):860-875. doi: 10.1001/jamaneurol.2018.0372.
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A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis.Brain Behav. 2018 Sep;8(9):e01066. doi: 10.1002/brb3.1066. Epub 2018 Jul 27.
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Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.
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Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.Neurology. 2006 May 23;66(10):1580-1. doi: 10.1212/01.wnl.0000216135.59699.9b.
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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.Brain. 2008 May;131(Pt 5):1217-27. doi: 10.1093/brain/awn029. Epub 2008 Mar 5.
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Comparison of HepG2 and HepaRG by whole-genome gene expression analysis for the purpose of chemical hazard identification. Toxicol Sci. 2010 May;115(1):66-79.
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Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells. Cells. 2020 Nov 5;9(11):2423. doi: 10.3390/cells9112423.
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Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
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Transcriptomics hit the target: monitoring of ligand-activated and stress response pathways for chemical testing. Toxicol In Vitro. 2015 Dec 25;30(1 Pt A):7-18.
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Temozolomide induces activation of Wnt/-catenin signaling in glioma cells via PI3K/Akt pathway: implications in glioma therapy. Cell Biol Toxicol. 2020 Jun;36(3):273-278. doi: 10.1007/s10565-019-09502-7. Epub 2019 Nov 22.
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Cannabidiol Displays Proteomic Similarities to Antipsychotics in Cuprizone-Exposed Human Oligodendrocytic Cell Line MO3.13. Front Mol Neurosci. 2021 May 28;14:673144. doi: 10.3389/fnmol.2021.673144. eCollection 2021.
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Inhibiting ubiquitination causes an accumulation of SUMOylated newly synthesized nuclear proteins at PML bodies. J Biol Chem. 2019 Oct 18;294(42):15218-15234. doi: 10.1074/jbc.RA119.009147. Epub 2019 Jul 8.
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Quantitative phosphoproteomics reveal cellular responses from caffeine, coumarin and quercetin in treated HepG2 cells. Toxicol Appl Pharmacol. 2022 Aug 15;449:116110. doi: 10.1016/j.taap.2022.116110. Epub 2022 Jun 7.
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Identification of transcriptome signatures and biomarkers specific for potential developmental toxicants inhibiting human neural crest cell migration. Arch Toxicol. 2016 Jan;90(1):159-80.
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Clarifying off-target effects for torcetrapib using network pharmacology and reverse docking approach. BMC Syst Biol. 2012 Dec 10;6:152.
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