✦ LIBER ✦

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

✍ Scribed by Anttonen, Anna-Kaisa; Mahjneh, Ibrahim; Hämäläinen, Riikka H; Lagier-Tourenne, Clotilde; Kopra, Outi; Waris, Laura; Anttonen, Mikko; Joensuu, Tarja; Kalimo, Hannu; Paetau, Anders

Book ID: 109919269
Publisher: Nature Publishing Group
Year: 2005
Tongue: English
Weight: 194 KB
Volume: 37
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1677

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in BAP/SIL1 gene causes

A novel mutation in BAP/SIL1 gene causes Marinesco–Sjögren syndrome in an extended pedigree

✍ MA Karim; AJ Parsian; MA Cleves; J Bracey; MS Elsayed; E Elsobky; A Parsian 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB

Novel SIL1 mutations and exclusion of fu

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

✍ Anttonen, Anna-Kaisa; Siintola, Eija; Tranebjaerg, Lisbeth; Iwata, Nobue K; Bijl 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 249 KB

P.I.5 Mutations in SIL1 cause Marinesco–

P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

✍ J. Senderek; M. Krieger; C. Stendel; K. North; F. Muntoni; S. Quijano-Roy; F. Eb 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 48 KB

Identification of a new homozygous frame

Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco–Sjögren syndrome

✍ Makoto Eriguchi; Haruo Mizuta; Kazuhiro Kurohara; Junko Fujitake; Yasuo Kuroda 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 774 KB