PubMed for id: 32544

Year	Number of Results
1989	1
1993	1
2000	1
2002	1
2003	1
2005	3
2006	3
2008	2
2009	2
2010	3
2011	2
2012	3
2013	2
2019	1
2024	0

1

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.

2

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

Horvers M, Anttonen AK, Lehesjoki AE, Morava E, Wortmann S, Vermeer S, van de Warrenburg BP, Willemsen MA. Horvers M, et al. Eur J Paediatr Neurol. 2013 Mar;17(2):199-203. doi: 10.1016/j.ejpn.2012.09.007. Epub 2012 Oct 11. Eur J Paediatr Neurol. 2013. PMID: 23062754

3

C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.

Howes J, Shimizu Y, Feige MJ, Hendershot LM. Howes J, et al. J Biol Chem. 2012 Mar 9;287(11):8552-60. doi: 10.1074/jbc.M111.333286. Epub 2012 Jan 4. J Biol Chem. 2012. PMID: 22219183 Free PMC article.

4

Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.

Yiş U, Cirak S, Hız S, Cakmakçı H, Dirik E. Yiş U, et al. Pediatr Neurol. 2011 Dec;45(6):409-11. doi: 10.1016/j.pediatrneurol.2011.08.015. Pediatr Neurol. 2011. PMID: 22115007

5

Marinesco-Sjögren Syndrome.

Anttonen AK. Anttonen AK. 2006 Nov 29 [updated 2019 Jan 10]. 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. 2006 Nov 29 [updated 2019 Jan 10]. 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: 20301371 Free Books & Documents. Review.

6

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.

Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T. Takahata T, et al. J Hum Genet. 2010 Mar;55(3):142-6. doi: 10.1038/jhg.2009.141. Epub 2010 Jan 29. J Hum Genet. 2010. PMID: 20111056

7

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.

Riazuddin SA, Amiri-Kordestani L, Kaul H, Butt T, Jiao X, Riazuddin S, Hejtmancik JF. Riazuddin SA, et al. Mol Vis. 2009 May 22;15:1050-6. Mol Vis. 2009. PMID: 19471582 Free PMC article.

8

Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.

Eriguchi M, Mizuta H, Kurohara K, Fujitake J, Kuroda Y. Eriguchi M, et al. J Neurol Sci. 2008 Jul 15;270(1-2):197-200. doi: 10.1016/j.jns.2008.02.012. Epub 2008 Apr 18. J Neurol Sci. 2008. PMID: 18395226

9

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE. Anttonen AK, et al. Eur J Hum Genet. 2008 Aug;16(8):961-9. doi: 10.1038/ejhg.2008.22. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285827

10

A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.

Karim MA, Parsian AJ, Cleves MA, Bracey J, Elsayed MS, Elsobky E, Parsian A. Karim MA, et al. Clin Genet. 2006 Nov;70(5):420-3. doi: 10.1111/j.1399-0004.2006.00695.x. Clin Genet. 2006. PMID: 17026626 No abstract available.

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