Similar articles for PMID: 18285827

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1964	1
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1

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

2

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. Anttonen AK, et al. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978

3

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Senderek J, et al. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977

4

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.

5

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

6

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.

Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J. Roos A, et al. Acta Neuropathol. 2014 May;127(5):761-77. doi: 10.1007/s00401-013-1224-4. Epub 2013 Dec 21. Acta Neuropathol. 2014. PMID: 24362440

7

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

8

SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.

Inaguma Y, Hamada N, Tabata H, Iwamoto I, Mizuno M, Nishimura YV, Ito H, Morishita R, Suzuki M, Ohno K, Kumagai T, Nagata K. Inaguma Y, et al. EMBO Mol Med. 2014 Mar;6(3):414-29. doi: 10.1002/emmm.201303069. Epub 2014 Jan 28. EMBO Mol Med. 2014. PMID: 24473200 Free PMC article.

9

Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome.

Schulz S, Vielhaber S, Muschke P, Mohnike K, Gooding R, Wieacker P. Schulz S, et al. Neuropediatrics. 2007 Apr;38(2):88-90. doi: 10.1055/s-2007-984448. Neuropediatrics. 2007. PMID: 17712737

10

Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex.

Sakai K, Tada M, Yonemochi Y, Nakajima T, Onodera O, Takahashi H, Kakita A. Sakai K, et al. Neuropathology. 2008 Oct;28(5):541-6. doi: 10.1111/j.1440-1789.2008.00884.x. Epub 2008 Apr 11. Neuropathology. 2008. PMID: 18410272

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