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Journal Abstract Search

116 related items for PubMed ID: 30293566

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  • 22. 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. PubMed ID: 24473200
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  • 24. The nucleotide exchange factor activity of Grp170 may explain the non-lethal phenotype of loss of Sil1 function in man and mouse.
    Weitzmann A, Volkmer J, Zimmermann R.
    FEBS Lett; 2006 Oct 02; 580(22):5237-40. PubMed ID: 16962589
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  • 26. Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome.
    Gai N, Jiang C, Zou YY, Zheng Y, Liang DS, Wu LQ.
    Clin Chim Acta; 2016 Jul 01; 458():1-4. PubMed ID: 27106665
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  • 30. 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 01; 17(2):199-203. PubMed ID: 23062754
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  • 31. Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.
    Van Raamsdonk JM.
    Clin Genet; 2006 May 01; 69(5):399-400. PubMed ID: 16650075
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  • 33. Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation.
    Cerami C, Tarantino P, Cupidi C, Annesi G, Lo Re V, Gagliardi M, Piccoli T, Quattrone A.
    J Neurol Sci; 2015 Jul 15; 354(1-2):112-3. PubMed ID: 25982182
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  • 36. In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome.
    Kollipara L, Buchkremer S, Coraspe JAG, Hathazi D, Senderek J, Weis J, Zahedi RP, Roos A.
    Oncotarget; 2017 Sep 15; 8(40):68493-68516. PubMed ID: 28978133
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  • 38. 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 15; 38(2):88-90. PubMed ID: 17712737
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