Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype-Reference-Cited by-同舟云学术

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Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype

Published:2013-03 Issue:2 Volume:17 Page:199-203
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Horvers M.,Anttonen A.K.,Lehesjoki A.E.,Morava E.,Wortmann S.,Vermeer S.,van de Warrenburg B.P.,Willemsen M.A.

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Autosomal recessive cerebellar ataxias: the current state of affairs;Vermeer;J Med Genet,2011

2. Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31;Lagier-Tourenne;Eur J Hum Genet,2003

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

4. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy;Senderek;Nat Genet,2005

5. BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP;Chung;J Biol Chem,2002

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco–Sjögren syndrome patients;Molecular Biology Reports;2024-07-26

2. Loss of SIL1 Affects Actin Dynamics and Leads to Abnormal Neural Migration;Molecular Neurobiology;2024-06-08

3. Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder;Clinica Chimica Acta;2022-01

4. Review: Protein misfolding diseases – the rare case of Marinesco‐Sjögren syndrome;Neuropathology and Applied Neurobiology;2020-05-18

5. Functional Role of SIL1 in Neurodevelopment and Learning;Neural Plasticity;2019-08-18

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