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Journal Abstract Search

385 related items for PubMed ID: 16282977

  • 1. 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. PubMed ID: 16282977
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  • 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.
    Nat Genet; 2005 Dec; 37(12):1309-11. PubMed ID: 16282978
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  • 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. PubMed ID: 17712737
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  • 5. 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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  • 7. 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.
    Acta Neuropathol; 2014 May 02; 127(5):761-77. PubMed ID: 24362440
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  • 10. 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 02; 17(2):199-203. PubMed ID: 23062754
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  • 14. Role of the HSP70 Co-Chaperone SIL1 in Health and Disease.
    Ichhaporia VP, Hendershot LM.
    Int J Mol Sci; 2021 Feb 04; 22(4):. PubMed ID: 33557244
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  • 17. Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.
    Van Raamsdonk JM.
    Clin Genet; 2006 May 04; 69(5):399-400. PubMed ID: 16650075
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