SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome-Reference-Cited by-同舟云学术

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Published:2013-10-30 Issue:12 Volume:136 Page:3634-3644
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Krieger Michael,Roos Andreas,Stendel Claudia,Claeys Kristl G.,Sonmez Fatma Mujgan,Baudis Michael,Bauer Peter,Bornemann Antje,de Goede Christian,Dufke Andreas,Finkel Richard S.,Goebel Hans H.,Häussler Martin,Kingston Helen,Kirschner Janbernd,Medne Livija,Muschke Petra,Rivier François,Rudnik-Schöneborn Sabine,Spengler Sabrina,Inzana Francesca,Stanzial Franco,Benedicenti Francesco,Synofzik Matthis,Lia Taratuto Ana,Pirra Laura,Tay Stacey Kiat-Hong,Topaloglu Haluk,Uyanik Gökhan,Wand Dorothea,Williams Denise,Zerres Klaus,Weis Joachim,Senderek Jan

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/136/12/3634/13795457/awt283.pdf

Reference50 articles.

1. SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases;Annesi;Clin Genet,2007

2. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone;Anttonen;Nat Genet,2005

3. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome;Anttonen;Eur J Hum Genet,2008

4. Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy;Begeer;J Med Genet,1991

5. Possible linkage between the Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism;Berg;Cytogenet Cell Genet,1976

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