MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy-Reference-Cited by-同舟云学术

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MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

Published:2014-12-03 Issue:1 Volume:174 Page:113-118
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Vodopiutz Julia,Schmook Maria T.,Konstantopoulou Vassiliki,Plecko Barbara,Greber-Platzer Susanne,Creus Marc,Seidl Rainer,Janecke Andreas R.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-014-2463-7.pdf

Reference21 articles.

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin–rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97–101. doi: 10.1038/ng786

2. Arnold K, Bordoli L, Kopp J, Schwede T (2006) The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22:195–201. doi: 10.1093/bioinformatics/bti770

3. Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M (2006) Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol 60:214–222. doi: 10.1002/ana.20902

4. Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M (2004) Infantile bilateral striatal necrosis maps to chromosome 19q. Neurology 62:87–90

5. Dinopoulos A, Cecil KM, Schapiro MB, Papadimitriou A, Hadjigeorgiou GM, Wong B, deGrauw T, Egelhoff JC (2005) Brain MRI and proton MRS findings in infants and children with respiratory chain defects. Neuropediatrics 36:290–301. doi: 10.1055/s-2005-872807

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