These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
163 related articles for article (PubMed ID: 33333218)
1. Some pathogenic SETX variants are partially conserved during evolution. Tariq H; Tariq I; Bourinaris T; Houlden H; Naz S Gene; 2021 Mar; 771():145360. PubMed ID: 33333218 [TBL] [Abstract][Full Text] [Related]
2. Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis. Ros-Arlanzón P; Serrano-Serrano B; Aledo-Sala C; Guevara-Dalrymple N; Martí-Martínez S Mov Disord Clin Pract; 2024 Aug; 11(8):1041-1043. PubMed ID: 38817201 [No Abstract] [Full Text] [Related]
3. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon. Ponger P; Kurolap A; Lerer I; Dagan J; Chai Gadot C; Mory A; Wilnai Y; Oniashvili N; Giladi N; Gurevich T; Meiner V; Lossos A; Baris Feldman H J Mol Neurosci; 2022 Aug; 72(8):1715-1723. PubMed ID: 35676594 [TBL] [Abstract][Full Text] [Related]
4. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Hadjinicolaou A; Ngo KJ; Conway DY; Provias JP; Baker SK; Brady LI; Bennett CL; La Spada AR; Fogel BL; Yoon G Acta Neuropathol Commun; 2021 Dec; 9(1):194. PubMed ID: 34922620 [TBL] [Abstract][Full Text] [Related]
5. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Fogel BL; Cho E; Wahnich A; Gao F; Becherel OJ; Wang X; Fike F; Chen L; Criscuolo C; De Michele G; Filla A; Collins A; Hahn AF; Gatti RA; Konopka G; Perlman S; Lavin MF; Geschwind DH; Coppola G Hum Mol Genet; 2014 Sep; 23(18):4758-69. PubMed ID: 24760770 [TBL] [Abstract][Full Text] [Related]
6. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. Bohlega SA; Shinwari JM; Al Sharif LJ; Khalil DS; Alkhairallah TS; Al Tassan NA BMC Med Genet; 2011 Feb; 12():27. PubMed ID: 21324166 [TBL] [Abstract][Full Text] [Related]
7. Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2. Kanagaraj R; Mitter R; Kantidakis T; Edwards MM; Benitez A; Chakravarty P; Fu B; Becherel O; Yang F; Lavin MF; Koren A; Stewart A; West SC Proc Natl Acad Sci U S A; 2022 Jan; 119(4):. PubMed ID: 35042798 [TBL] [Abstract][Full Text] [Related]
8. Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration. Giannini M; Porrua O Biochimie; 2024 Feb; 217():10-19. PubMed ID: 37558082 [TBL] [Abstract][Full Text] [Related]
9. SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation. Richard P; Feng S; Tsai YL; Li W; Rinchetti P; Muhith U; Irizarry-Cole J; Stolz K; Sanz LA; Hartono S; Hoque M; Tadesse S; Seitz H; Lotti F; Hirano M; Chédin F; Tian B; Manley JL Autophagy; 2021 Aug; 17(8):1889-1906. PubMed ID: 32686621 [TBL] [Abstract][Full Text] [Related]
10. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). Schöls L; Arning L; Schüle R; Epplen JT; Timmann D J Neurol; 2008 Apr; 255(4):495-501. PubMed ID: 18350359 [TBL] [Abstract][Full Text] [Related]
11. The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases. Arning L; Epplen JT; Rahikkala E; Hendrich C; Ludolph AC; Sperfeld AD Neurogenetics; 2013 Feb; 14(1):53-61. PubMed ID: 23129421 [TBL] [Abstract][Full Text] [Related]
12. SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease. Bennett CL; La Spada AR Mol Genet Genomic Med; 2021 Dec; 9(12):e1745. PubMed ID: 34263556 [TBL] [Abstract][Full Text] [Related]
13. Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of Andreini I; Moro F; Africa LM; Rubegni A; Santorelli FM; Scarpini C; Sicurelli F; Battisti C Amyotroph Lateral Scler Frontotemporal Degener; 2020 May; 21(3-4):312-313. PubMed ID: 32186211 [No Abstract] [Full Text] [Related]
14. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Nanetti L; Cavalieri S; Pensato V; Erbetta A; Pareyson D; Panzeri M; Zorzi G; Antozzi C; Moroni I; Gellera C; Brusco A; Mariotti C Orphanet J Rare Dis; 2013 Aug; 8():123. PubMed ID: 23941260 [TBL] [Abstract][Full Text] [Related]
15. Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation. Choudhury SD; Vs A; Mushtaq Z; Kumar V Synapse; 2017 May; 71(5):. PubMed ID: 28245518 [TBL] [Abstract][Full Text] [Related]
16. Heterozygous deletion in exon 6 of Kinkar JS; Jameel PZ; Kumawat BL; Kalbhor P BMJ Case Rep; 2021 Jun; 14(6):. PubMed ID: 34193451 [TBL] [Abstract][Full Text] [Related]
17. A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. Szpisjak L; Obal I; Engelhardt JI; Vecsei L; Klivenyi P Acta Neurol Belg; 2016 Sep; 116(3):405-7. PubMed ID: 26811093 [No Abstract] [Full Text] [Related]
18. Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4. Grunseich C; Patankar A; Amaya J; Watts JA; Li D; Ramirez P; Schindler AB; Fischbeck KH; Cheung VG Ann Neurol; 2020 Apr; 87(4):547-555. PubMed ID: 31957062 [TBL] [Abstract][Full Text] [Related]
19. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. Becherel OJ; Sun J; Yeo AJ; Nayler S; Fogel BL; Gao F; Coppola G; Criscuolo C; De Michele G; Wolvetang E; Lavin MF Hum Mol Genet; 2015 Oct; 24(20):5759-74. PubMed ID: 26231220 [TBL] [Abstract][Full Text] [Related]
20. Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4. Kannan A; Cuartas J; Gangwani P; Branzei D; Gangwani L Brain; 2022 Sep; 145(9):3072-3094. PubMed ID: 35045161 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]