SFX by Ex Libris Inc.

Title:	New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations
Source:	European Journal of Human Genetics [1018-4813] Ogino, Shuji yr:2004

Basic

Full text

Full text available via Nature

Year:

Volume:

Issue:

Start Page:

Document delivery

Request document via Library/Bibliothek

Users interested in this article also expressed an interest in the following:
description	1.	Wilson, Robert B B. "Genetic risk assessment in carrier testing for spinal muscular atrophy." American journal of medical genetics 110.4 (2002): 301-7.
description	2.	Veldink, J. H. "SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS." Neurology 65.6 (2005): 820-825.
description	3.	Gogliotti, Rocky G. "The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models." Human molecular genetics 22.20 (2013): 4084-101.
description	4.	Norwood, Fiona L M M. "Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population." Brain 132.Pt 11 (2009): 3175-3186.
description	5.	Wirth, B. "Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy." American journal of human genetics 70.2 (2002): 358-368.
description	6.	McAndrew, P E E. "Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number." American Journal of Human Genetics 60.6 (1997): 1411-22.
description	7.	Ogino, S. "Genetic testing and risk assessment for spinal muscular atrophy (SMA)." Human genetics 111.6 (2003): 477-500.
description	8.	Van Meerbeke, James P. "The DcpS inhibitor RG3039 improves motor function in SMA mice." Human molecular genetics (2013).
description	9.	Bowerman, M. "A critical Smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology." Neuromuscular disorders 22.3 (2011): 263-276.
description	10.	Sugarman, Elaine A. "Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens." European journal of human genetics 20.1 (2011): 27-32.
description	11.	Andres, C. "Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis." Annals of neurology 51.2 (2002): 243-6.
description	12.	Prior, Carolee W. "Newborn and Carrier Screening for Spinal Muscular Atrophy." American journal of medical genetics. Part A 152A.7 (2010): 1608-1616.
description	13.	Main, M. "The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation." European journal of paediatric neurology 7.4 (2003): 155-9.
description	14.	Melki, J. "Spinal muscular atrophy." Current opinion in neurology 10.5 (1997): 381-5.
description	15.	Hsieh-Li, H M M. "A mouse model for spinal muscular atrophy." Nature genetics 24.1 (1999): 66-70.
description	16.	Jarecki, J. "Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy." Human Molecular Genetics 14.14 (2005): 2003-18.
description	17.	Setola, V. "Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis." Proceedings of the National Academy of Sciences of the United States of America 104.6 (2007): 1959-1964.
description	18.	Sumner, C. "SMN mRNA and protein levels in peripheral blood - Biomarkers for SMA clinical trials." Neurology 66.7 (2006): 1067-1073.
description	19.	Matsuo, M. "Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy." Kobe journal of medical sciences (2003): 177-82.
description	20.	Stucki, G. "Development of ICF Core Sets for patients with chronic conditions." Journal of rehabilitation medicine 36.44 Suppl (2004): 9-11.