PubMed for id: 51010

Year	Number of Results
1993	1
1999	1
2000	2
2001	3
2002	6
2003	1
2004	5
2005	2
2006	3
2007	2
2008	3
2010	3
2011	5
2012	2
2013	4
2014	4
2015	6
2016	5
2017	10
2018	6
2019	7
2020	9
2021	9
2022	13
2023	7
2024	1

1

Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation.

Van Quekelberghe C, Latta K, Kunzmann S, Grohmann M, Hansen M. Van Quekelberghe C, et al. Pediatr Nephrol. 2022 Nov;37(11):2781-2784. doi: 10.1007/s00467-022-05566-6. Epub 2022 May 6. Pediatr Nephrol. 2022. PMID: 35522339 Free PMC article.

2

Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.

Mu W, Heller T, Barañano KW. Mu W, et al. BMJ Case Rep. 2021 Jan 18;14(1):e236732. doi: 10.1136/bcr-2020-236732. BMJ Case Rep. 2021. PMID: 33462000 Free PMC article.

3

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M. Schottmann G, et al. Mitochondrion. 2017 Nov;37:46-54. doi: 10.1016/j.mito.2017.06.007. Epub 2017 Jul 4. Mitochondrion. 2017. PMID: 28687512

4

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.

Halevy A, Lerer I, Cohen R, Kornreich L, Shuper A, Gamliel M, Zimerman BE, Korabi I, Meiner V, Straussberg R, Lossos A. Halevy A, et al. J Neurol. 2014 Nov;261(11):2165-9. doi: 10.1007/s00415-014-7457-x. Epub 2014 Aug 23. J Neurol. 2014. PMID: 25149867

5

EXOSC3 Pontocerebellar Hypoplasia.

Baas F, van Dijk T. Baas F, et al. 2014 Aug 21 [updated 2020 Sep 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Aug 21 [updated 2020 Sep 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25144110 Free Books & Documents. Review.

6

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. Eggens VR, et al. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.

7

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W. Zanni G, et al. Neurogenetics. 2013 Nov;14(3-4):247-50. doi: 10.1007/s10048-013-0371-z. Epub 2013 Aug 24. Neurogenetics. 2013. PMID: 23975261

8

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P. Schwabova J, et al. J Neurogenet. 2013 Dec;27(4):163-9. doi: 10.3109/01677063.2013.814651. Epub 2013 Jul 25. J Neurogenet. 2013. PMID: 23883322

9

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. Biancheri R, et al. J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. J Neurol. 2013. PMID: 23564332

10

Aberrant expression of MYD88 via RNA-controlling CNOT4 and EXOSC3 in colonic mucosa impacts generation of colonic cancer.

Tsuda M, Noguchi M, Kurai T, Ichihashi Y, Ise K, Wang L, Ishida Y, Tanino M, Hirano S, Asaka M, Tanaka S. Tsuda M, et al. Cancer Sci. 2021 Dec;112(12):5100-5113. doi: 10.1111/cas.15157. Epub 2021 Oct 25. Cancer Sci. 2021. PMID: 34626022 Free PMC article.

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