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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 1 |
2017 | 1 |
2018 | 2 |
2020 | 1 |
2021 | 1 |
2023 | 0 |
PubMed for id: 863597
5 results
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Page 1
The RNA Exosome and Human Disease.
Methods Mol Biol. 2020;2062:3-33. doi: 10.1007/978-1-4939-9822-7_1.
Methods Mol Biol. 2020.
PMID: 31768969
Review.
The RNA exosome and RNA exosome-linked disease.
Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH, Fasken MB.
Morton DJ, et al.
RNA. 2018 Feb;24(2):127-142. doi: 10.1261/rna.064626.117. Epub 2017 Nov 1.
RNA. 2018.
PMID: 29093021
Free PMC article.
Review.
Item in Clipboard
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A.
Somashekar PH, et al.
Clin Genet. 2021 Apr;99(4):594-600. doi: 10.1111/cge.13928. Epub 2021 Jan 28.
Clin Genet. 2021.
PMID: 33463720
Free PMC article.
Review.
Item in Clipboard
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A.
Ivanov I, et al.
Eur J Paediatr Neurol. 2018 Jul;22(4):674-681. doi: 10.1016/j.ejpn.2018.03.011. Epub 2018 Apr 3.
Eur J Paediatr Neurol. 2018.
PMID: 29656927
Review.
Item in Clipboard
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R.
Boczonadi V, et al.
Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.
Nat Commun. 2014.
PMID: 24989451
Free PMC article.
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