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2014 1
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2018 2
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2021 1
2023 0

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PubMed for id: 863597

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Page 1
The RNA Exosome and Human Disease.
Fasken MB, Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH. Fasken MB, et al. 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.
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.
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.