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Items: 1 to 20 of 360

1.

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.

Neuropathology. 2008 Oct;28(5):541-6. doi: 10.1111/j.1440-1789.2008.00884.x. Epub 2008 Apr 11.

PMID:
18410272
2.

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.

J Neurol Sci. 2008 Jul 15;270(1-2):197-200. doi: 10.1016/j.jns.2008.02.012. Epub 2008 Apr 18.

PMID:
18395226
3.

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.

Eur J Hum Genet. 2008 Aug;16(8):961-9. doi: 10.1038/ejhg.2008.22. Epub 2008 Feb 20.

4.

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.

Neuropediatrics. 2007 Apr;38(2):88-90.

PMID:
17712737
5.

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.

Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30.

6.

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

Yiş U, Cirak S, Hız S, Cakmakçı H, Dirik E.

Pediatr Neurol. 2011 Dec;45(6):409-11. doi: 10.1016/j.pediatrneurol.2011.08.015.

PMID:
22115007
7.

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.

Nat Genet. 2005 Dec;37(12):1312-4. Epub 2005 Nov 13.

PMID:
16282977
8.

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.

Eur J Paediatr Neurol. 2013 Mar;17(2):199-203. doi: 10.1016/j.ejpn.2012.09.007. Epub 2012 Oct 11.

PMID:
23062754
9.

MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

Reinhold A, Scheer I, Lehmann R, Neumann LM, Michael T, Varon R, Von Moers A.

AJNR Am J Neuroradiol. 2003 May;24(5):825-8. Review.

10.

SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.

Annesi G, Aguglia U, Tarantino P, Annesi F, De Marco EV, Civitelli D, Torroni A, Quattrone A.

Clin Genet. 2007 Mar;71(3):288-9. No abstract available.

PMID:
17309654
11.

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter JM, Koenig M.

Eur J Hum Genet. 2003 Oct;11(10):770-8.

12.

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E.

Am J Med Genet A. 2005 Mar 1;133A(2):197-201. Review.

PMID:
15633176
13.

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.

EMBO Mol Med. 2014 Mar;6(3):414-29. doi: 10.1002/emmm.201303069. Epub 2014 Jan 28.

14.

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.

Nat Genet. 2005 Dec;37(12):1309-11. Epub 2005 Nov 13.

PMID:
16282978
15.
16.

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

Rantamäki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B.

Neurology. 2001 Sep 25;57(6):1043-9.

PMID:
11571332
17.

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.

Mahjneh I, Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H, Udd B.

J Neurol. 2006 Mar;253(3):301-6. Epub 2005 Sep 15.

PMID:
16151599
18.

Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.

Pascual-Castroviejo I, Gutierrez M, Morales C, Gonzalez-Mediero I, Martínez-Bermejo A, Pascual-Pascual SI.

Neuropediatrics. 1994 Aug;25(4):183-90. Review.

PMID:
7824090
19.

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.

J Hum Genet. 2010 Mar;55(3):142-6. doi: 10.1038/jhg.2009.141. Epub 2010 Jan 29.

PMID:
20111056
20.
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